Human Gene Module / Chromosome 16 / ANKRD11

ANKRD11ankyrin repeat domain 11

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
16 / 45
Rare Variants / Common Variants
65 / 0
Aliases
ANKRD11, T13,  LZ16,  ANCO-1
Associated Syndromes
KBG syndrome, Cornelia de Lange syndrome
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
16q24.3
Associated Disorders
ADHD, DD/NDD, ASD, ID, EPS
Relevance to Autism

Studies have identified rare mutations in the ANKRD11 gene with autism.

Molecular Function

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability.

Reports related to ANKRD11 (45 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. Zhang A , et al. (2004) No -
2 Recent Recommendation Subcellular localization of ankyrin repeats cofactor-1 regulates its corepressor activity. Zhang A , et al. (2007) No -
3 Primary Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008) Yes -
4 Recent Recommendation Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function. Li CW , et al. (2008) No -
5 Recent Recommendation Identification of ANKRD11 as a p53 coactivator. Neilsen PM , et al. (2008) No -
6 Support Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Willemsen MH , et al. (2009) Yes -
7 Support Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms. Isrie M , et al. (2011) No ADHD
8 Support Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Sirmaci A , et al. (2011) No ID
9 Support Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ... Brett M , et al. (2014) Yes MCA
10 Support Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Ansari M , et al. (2014) No -
11 Support Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Redin C , et al. (2014) No -
12 Support De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Dong S , et al. (2014) No -
13 Support The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
14 Recent Recommendation Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. Ockeloen CW , et al. (2014) No ASD, ID, ADHD, epilepsy
15 Support Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Soden SE , et al. (2014) No -
16 Support Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014) Yes -
17 Recent Recommendation Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Gallagher D , et al. (2015) No -
18 Support Whole exome sequencing in females with autism implicates novel and candidate genes. Butler MG , et al. (2015) Yes -
19 Support Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype. Parenti I , et al. (2015) No -
20 Recent Recommendation Low load for disruptive mutations in autism genes and their biased transmission. Iossifov I , et al. (2015) Yes -
21 Support Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. Charng WL , et al. (2016) No -
22 Support Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Lelieveld SH , et al. (2016) No -
23 Support Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Goldenberg A , et al. (2016) No -
24 Support High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. Martnez F , et al. (2016) No ID, autistic behavior, stereotypic behavior
25 Support Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Doan RN , et al. (2016) Yes -
26 Support Clinical and genetic aspects of KBG syndrome. Low K , et al. (2016) No -
27 Support De novo genic mutations among a Chinese autism spectrum disorder cohort. Wang T , et al. (2016) Yes -
28 Support Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Trujillano D , et al. (2016) No -
29 Support KBG syndrome involving a single-nucleotide duplication in ANKRD11. Kleyner R , et al. (2016) No ASD, ID, epilepsy/seizures
30 Support ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. Miyatake S , et al. (2017) No -
31 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017) Yes -
32 Support A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Vissers LE , et al. (2017) No -
33 Support Genomic diagnosis for children with intellectual disability and/or developmental delay. Bowling KM , et al. (2017) Yes -
34 Support Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Lionel AC , et al. (2017) No -
35 Support High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Hamdan FF , et al. (2017) No DD/ID
36 Support Exome Pool-Seq in neurodevelopmental disorders. Popp B , et al. (2017) No Microcephaly
37 Support Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice. Tumien B , et al. (2017) No Specific learning disability
38 Support Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Takata A , et al. (2018) Yes -
39 Recent Recommendation Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Kline AD , et al. (2018) No -
40 Support Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. De Bernardi ML , et al. (2018) No -
41 Support The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders. Jiao Q , et al. (2019) No -
42 Support Characterization of intellectual disability and autism comorbidity through gene panel sequencing. Aspromonte MC , et al. (2019) Yes -
43 Support Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. Munnich A , et al. (2019) Yes -
44 Support Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Satterstrom FK , et al. (2020) Yes -
45 Support Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. Husson T , et al. (2020) Yes -
Rare Variants   (65)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss De novo NA - 19920853 Willemsen MH , et al. (2009)
- - copy_number_loss De novo NA Simplex 21654729 Isrie M , et al. (2011)
c.-60+24969del - intron_variant - - Unknown 27667684 Doan RN , et al. (2016)
- - copy_number_loss De novo NA Simplex 18252227 Marshall CR , et al. (2008)
c.6623C>A p.Ser2208Ter stop_gained De novo NA - 30945278 Jiao Q , et al. (2019)
c.2512C>T p.Arg838Ter stop_gained Unknown - - 28771251 Lionel AC , et al. (2017)
c.6187G>T p.Glu2063Ter stop_gained De novo NA - 28250421 Miyatake S , et al. (2017)
c.6472G>T p.Glu2158Ter stop_gained De novo NA - 28554332 Bowling KM , et al. (2017)
c.2751dup p.Glu918Ter stop_gained De novo NA - 25424714 Ockeloen CW , et al. (2014)
c.7570-2A>G - splice_site_variant De novo NA - 27848944 Trujillano D , et al. (2016)
c.2512C>T p.Arg838Ter stop_gained De novo NA Simplex 29100083 Hamdan FF , et al. (2017)
c.2983A>G p.Lys995Glu missense_variant Unknown - - 31209962 Aspromonte MC , et al. (2019)
c.389A>G p.Asn130Ser missense_variant Familial Paternal - 27824329 Wang T , et al. (2016)
c.7189C>T p.Gln2397Ter stop_gained De novo NA Simplex 21782149 Sirmaci A , et al. (2011)
c.5317G>T p.Glu1773Ter stop_gained De novo NA Simplex 27435318 Charng WL , et al. (2016)
c.6868C>T p.Pro2290Ser missense_variant Familial Maternal - 24690944 Brett M , et al. (2014)
c.7595A>C p.Gln2532Pro missense_variant De novo NA Simplex 29346770 Takata A , et al. (2018)
c.1382C>G p.Thr461Arg missense_variant Unknown - Multiplex 25574603 Butler MG , et al. (2015)
c.7570-1G>C - splice_site_variant Familial Paternal Multiplex 21782149 Sirmaci A , et al. (2011)
c.745-599_745-595del - frameshift_variant De novo NA Simplex 28250421 Miyatake S , et al. (2017)
c.1903_1907del p.Lys635GlnfsTer26 frameshift_variant De novo NA - 29158550 Popp B , et al. (2017)
c.554_557del p.Lys185SerfsTer42 frameshift_variant De novo NA - 25473036 Soden SE , et al. (2014)
c.6793del p.Ala2265ProfsTer72 frameshift_variant De novo NA - 28554332 Bowling KM , et al. (2017)
c.1318C>T p.Arg440Ter stop_gained Familial Maternal Simplex 25424714 Ockeloen CW , et al. (2014)
c.6184del p.Leu2062TrpfsTer25 frameshift_variant De novo NA - 25424714 Ockeloen CW , et al. (2014)
c.6513dup p.Gly2172ArgfsTer14 frameshift_variant De novo NA - 25424714 Ockeloen CW , et al. (2014)
c.1489G>C p.Gly497Arg missense_variant De novo NA Simplex 31981491 Satterstrom FK , et al. (2020)
c.4965del p.Glu1656SerfsTer30 frameshift_variant De novo NA - 27479843 Lelieveld SH , et al. (2016)
c.5174dup p.Ser1726ValfsTer6 frameshift_variant Unknown - Simplex 28263302 C Yuen RK , et al. (2017)
c.1460_1463del p.Glu487ValfsTer22 frameshift_variant Unknown - - 25424714 Ockeloen CW , et al. (2014)
c.4083C>A p.His1361Gln missense_variant Familial Maternal Multiplex 25167861 Redin C , et al. (2014)
c.2305del p.Ser769GlnfsTer8 frameshift_variant De novo NA Simplex 21782149 Sirmaci A , et al. (2011)
c.4374del p.Lys1459ArgfsTer72 frameshift_variant Unknown - Simplex 28263302 C Yuen RK , et al. (2017)
c.3460dup p.Glu1154GlyfsTer16 frameshift_variant De novo NA Simplex 32094338 Husson T , et al. (2020)
c.4964_4965del p.Lys1655ArgfsTer12 frameshift_variant De novo NA - 28333917 Vissers LE , et al. (2017)
c.6416C>T p.Pro2139Leu missense_variant Familial Maternal Simplex 28250421 Miyatake S , et al. (2017)
c.1903_1907del p.Lys635GlnfsTer26 frameshift_variant De novo NA - 25424714 Ockeloen CW , et al. (2014)
c.2092_2096del p.Glu698ThrfsTer2 frameshift_variant De novo NA - 27479843 Lelieveld SH , et al. (2016)
c.6015dup p.Gly2006ArgfsTer26 frameshift_variant De novo NA Simplex 27900361 Kleyner R , et al. (2016)
c.3224_3227del p.Glu1075GlyfsTer242 frameshift_variant De novo NA - 28250421 Miyatake S , et al. (2017)
c.3382_3383del p.Asp1128GlnfsTer41 frameshift_variant De novo NA - 25424714 Ockeloen CW , et al. (2014)
c.4391_4392del p.Lys1464ThrfsTer89 frameshift_variant De novo NA - 25424714 Ockeloen CW , et al. (2014)
c.2398_2401del p.Glu800AsnfsTer62 frameshift_variant De novo NA - 27479843 Lelieveld SH , et al. (2016)
c.6812_6813del p.Pro2271ArgfsTer24 frameshift_variant Unknown - - 31209962 Aspromonte MC , et al. (2019)
c.2175_2178del p.Asn725LysfsTer23 frameshift_variant De novo NA Simplex 25284784 Dong S , et al. (2014)
c.3123_3126del p.Ile1042TrpfsTer275 frameshift_variant De novo NA - 25424714 Ockeloen CW , et al. (2014)
c.6968_6975del p.Ala2323GlyfsTer206 frameshift_variant De novo NA - 31209962 Aspromonte MC , et al. (2019)
c.6071_6084del p.Pro2024ArgfsTer3 frameshift_variant De novo NA Simplex 21782149 Sirmaci A , et al. (2011)
c.5953_5954del p.Gln1985GlufsTer46 frameshift_variant De novo NA Simplex 21782149 Sirmaci A , et al. (2011)
c.1903_1907del p.Lys635GlnfsTer26 frameshift_variant De novo NA Simplex 25363768 Iossifov I , et al. (2014)
c.7234del p.Gln2412SerfsTer79 frameshift_variant De novo NA Simplex 31981491 Satterstrom FK , et al. (2020)
c.3832A>T p.Lys1278Ter stop_gained Familial Maternal Extended multiplex 25424714 Ockeloen CW , et al. (2014)
c.1801C>T p.Arg601Ter stop_gained De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.1722_1725del p.Glu576LeufsTer13 frameshift_variant De novo NA Simplex 31981491 Satterstrom FK , et al. (2020)
c.4528_4529del p.Pro1510AlafsTer43 frameshift_variant De novo NA Simplex 30088855 De Bernardi ML , et al. (2018)
c.7481dup p.Pro2495SerfsTer37 frameshift_variant Familial Maternal Multiplex 25424714 Ockeloen CW , et al. (2014)
c.3369_3372del p.Ser1123ArgfsTer194 frameshift_variant Familial Paternal Simplex 27620904 Martnez F , et al. (2016)
NM_013275:c.3542_3543ins23 p.Arg1182AlafsTer144 frameshift_variant De novo NA Simplex 31406558 Munnich A , et al. (2019)
c.3582del p.Arg1195GlufsTer123 frameshift_variant De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.2408_2412del p.Lys803ArgfsTer5 frameshift_variant De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.1903_1907del p.Lys635GlnfsTer26 frameshift_variant De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.3437_3462del p.Thr1146ArgfsTer15 frameshift_variant De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.3704_3707del p.Lys1235ArgfsTer82 frameshift_variant De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.4103_4104del p.Lys1368ArgfsTer17 frameshift_variant De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.4475_4476insTCCTGCGGCATCACAGGGACGAGC p.Leu1492_Leu1493insProAlaAlaSerGlnGlyArgAla inframe_insertion De novo NA - 29286531 Tumien B , et al. (2017)
Common Variants  

No common variants reported.

SFARI Gene score
1

High Confidence

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features. De novo variants in the ANKRD11 gene have been reported in individuals with a non-classic Cornelia de Lange phenotype (Ansari et al., 2014; Parenti et al., 2016). A comparison of the primary clinical findings in individuals with molecularly confirmed Cornelia de Lange syndrome in Kline et al., 2018 determined that 20-49% of individuals with ANKRD11 mutations presented with autism spectrum disorder.

Score Delta: Score remained at 2S

1

High Confidence

See all Category 1 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

1/1/2020
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features. De novo variants in the ANKRD11 gene have been reported in individuals with a non-classic Cornelia de Lange phenotype (Ansari et al., 2014; Parenti et al., 2016). A comparison of the primary clinical findings in individuals with molecularly confirmed Cornelia de Lange syndrome in Kline et al., 2018 determined that 20-49% of individuals with ANKRD11 mutations presented with autism spectrum disorder.

10/1/2019
2S
icon
2S

Score remained at 2S

New Scoring Scheme
Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features. De novo variants in the ANKRD11 gene have been reported in individuals with a non-classic Cornelia de Lange phenotype (Ansari et al., 2014; Parenti et al., 2016). A comparison of the primary clinical findings in individuals with molecularly confirmed Cornelia de Lange syndrome in Kline et al., 2018 determined that 20-49% of individuals with ANKRD11 mutations presented with autism spectrum disorder.

Reports Added
[New Scoring Scheme]
7/1/2019
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features. De novo variants in the ANKRD11 gene have been reported in individuals with a non-classic Cornelia de Lange phenotype (Ansari et al., 2014; Parenti et al., 2016). A comparison of the primary clinical findings in individuals with molecularly confirmed Cornelia de Lange syndrome in Kline et al., 2018 determined that 20-49% of individuals with ANKRD11 mutations presented with autism spectrum disorder.

4/1/2019
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features. De novo variants in the ANKRD11 gene have been reported in individuals with a non-classic Cornelia de Lange phenotype (Ansari et al., 2014; Parenti et al., 2016). A comparison of the primary clinical findings in individuals with molecularly confirmed Cornelia de Lange syndrome in Kline et al., 2018 determined that 20-49% of individuals with ANKRD11 mutations presented with autism spectrum disorder.

7/1/2018
2.1 + S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features. De novo variants in the ANKRD11 gene have been reported in individuals with a non-classic Cornelia de Lange phenotype (Ansari et al., 2014; Parenti et al., 2016). A comparison of the primary clinical findings in individuals with molecularly confirmed Cornelia de Lange syndrome in Kline et al., 2018 determined that 20-49% of individuals with ANKRD11 mutations presented with autism spectrum disorder.

10/1/2017
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features.

7/1/2017
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features.

4/1/2017
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features.

Reports Added
[Structural variation of chromosomes in autism spectrum disorder.2008] [Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.2009] [The contribution of de novo coding mutations to autism spectrum disorder.2014] [Whole exome sequencing in females with autism implicates novel and candidate genes.2015] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.2011] [Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.2011] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.2014] [Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.2004] [Subcellular localization of ankyrin repeats cofactor-1 regulates its corepressor activity.2007] [Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function.2008] [Identification of ANKRD11 as a p53 coactivator.2008] [Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.2011] [De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.2014] [Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.2014] [Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.2016] [Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.2016] [High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.2016] [Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.2016] [Clinical and genetic aspects of KBG syndrome.2016] [Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.2016] [De novo genic mutations among a Chinese autism spectrum disorder cohort.2016] [Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016] [KBG syndrome involving a single-nucleotide duplication in ANKRD11.2016] [ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.2017] [Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.2017] [A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.2017] [Genomic diagnosis for children with intellectual disability and/or developmental delay.2017]
1/1/2017
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features.

10/1/2016
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability. Clinical evaluation of 32 patients with KBG syndrome in Low et al., 2016 found that 8 out of 32 cases (25%) had a formal diagnosis of ASD, with an additional case presenting with some autistic features.

7/1/2016
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability.

4/1/2016
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability.

Reports Added
[Structural variation of chromosomes in autism spectrum disorder.2008] [Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.2009] [The contribution of de novo coding mutations to autism spectrum disorder.2014] [Whole exome sequencing in females with autism implicates novel and candidate genes.2015] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.2011] [Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.2011] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.2014] [Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.2004] [Subcellular localization of ankyrin repeats cofactor-1 regulates its corepressor activity.2007] [Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function.2008] [Identification of ANKRD11 as a p53 coactivator.2008] [Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.2011] [De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.2014] [Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.2014]
1/1/2016
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability.

Reports Added
[Structural variation of chromosomes in autism spectrum disorder.2008] [Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.2009] [The contribution of de novo coding mutations to autism spectrum disorder.2014] [Whole exome sequencing in females with autism implicates novel and candidate genes.2015] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.2011] [Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.2011] [Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.2014] [Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.2014] [Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.2004] [Subcellular localization of ankyrin repeats cofactor-1 regulates its corepressor activity.2007] [Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function.2008] [Identification of ANKRD11 as a p53 coactivator.2008] [Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.2011] [De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.2014] [Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.2015] [Low load for disruptive mutations in autism genes and their biased transmission.2015]
1/1/2015
2S
icon
2S

Score remained at 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability.

10/1/2014
4
icon
2S

Decreased from 4 to 2S

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008). Two de novo LoF variants in the ANKRD11 gene (both frameshift) have been identified in ASD probands from the Simons Simplex Collection (PMIDs 25284784, 25363768). Mutations in ANKRD11 are also responsible for KBG syndrome (OMIM 148050), which is characterized by developmental delay/intellectual disability and, in some cases, autism (PMID 21782149, 19597979). A comprehensive clinical and genetic evaluation of 20 patients with KBG syndrome from 13 families published in 2014 found that many patients displayed behavioral abnormalities such as ASD (PMID 25424714). In this report, de novo LoF variants in ANKRD11 were observed in three KBG patients that also presented with ASD (two frameshift, one nonsense), while another frameshift variant in ANKRD11 segregated with disease in a multi-generational pedigree in which a mother with intellectual disability and autistic features transmitted this variant to four affected children, all of whom presented with ASD and intellectual disability.

7/1/2014
No data
icon
4

Increased from No data to 4

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008).

4/1/2014
No data
icon
4

Increased from No data to 4

Description

ANKRD11 is in an ASD-associated multi-genic CNV on chromosome 16q24.3 (Willemsen et al., 2010; Marshall et al., 2008).

Krishnan Probability Score

Score 0.49683458187312

Ranking 2497/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
ExAC Score

Score 0.99999982163224

Ranking 214/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Iossifov Probability Score

Score 1

Ranking 1/239 scored genes


[Show Scoring Methodology]
Supplementary dataset S2 in the paper by Iossifov et al. (PNAS 112, E5600-E5607 (2015)) lists 239 genes with a probability of at least 0.8 of being associated with autism risk (column I). This probability metric combines the evidence from de novo likely-gene- disrupting and missense mutations and assesses it against the background mutation rate in unaffected individuals from the University of Washington’s Exome Variant Sequence database (evs.gs.washington.edu/EVS/). The list of probability scores can be found here: www.pnas.org/lookup/suppl/doi:10.1073/pnas.1516376112/- /DCSupplemental/pnas.1516376112.sd02.xlsx
Sanders TADA Score

Score 0.40237920709992

Ranking 282/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Larsen Cumulative Evidence Score

Score 70

Ranking 19/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Zhang D Score

Score 0.18451936412407

Ranking 4526/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
BZRAP1 benzodiazapine receptor (peripheral) associated protein 1 Human Protein Binding 9256 O95153
CDCA7L cell division cycle associated 7-like Human Protein Binding 55536 Q96GN5
Fzd3 frizzled homolog 3 (Drosophila) Mouse Direct Regulation 14365 Q61086
GPS2 G protein pathway suppressor 2 Human Protein Binding 2874 Q13227
HDAC3 Histone deacetylase 3 Human Protein Binding 8841 O15379
HDAC4 histone deacetylase 4 Human Protein Binding 9759 P56524
HDAC5 Histone deacetylase 5 Human Protein Binding 10014 Q9UQL6
HOOK2 hook homolog 2 (Drosophila) Human Protein Binding 29911 Q96ED9
IKZF1 IKAROS family zinc finger 1 (Ikaros) Human Protein Binding 10320 Q13422
KIAA1712 centrosomal protein 44kDa Human Protein Binding NM_001040157 Q9C0F1
Kmt2e lysine (K)-specific methyltransferase 2E Mouse Direct Regulation 69188 Q3UG20
MKRN3 makorin ring finger protein 3 Human Protein Binding 7681 Q13064
NCOA2 nuclear receptor coactivator 2 Human Protein Binding 10499 Q15596
NCOA3 nuclear receptor coactivator 3 Human Protein Binding 8202 Q9Y6Q9
Ncor1 nuclear receptor co-repressor 1 Mouse Direct Regulation 20185 Q60974
Notch1 notch 1 Mouse Direct Regulation 18128 Q01705
PDE4DIP phosphodiesterase 4D interacting protein Human Protein Binding 9659 Q5VU43
Slc1a2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 Mouse Direct Regulation 20511 P43006
Sox6 SRY-box containing gene 6 Mouse Direct Regulation 20679 P40645
TADA3 transcriptional adaptor 3 Human Protein Binding 10474 O75528
TFIP11 tuftelin interacting protein 11 Human Protein Binding 24144 Q9UBB9
TRIM37 tripartite motif containing 37 Human Protein Binding NM_015294 A8K0V9
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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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