Human Gene Module / Chromosome 3 / CTNNB1

CTNNB1catenin beta 1

SFARI Gene Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
12 / 41
Rare Variants / Common Variants
118 / 0
EAGLE Score
32.75
Strong Learn More
Aliases
CTNNB1, OK/SW-cl.35,  CTNNB
Associated Syndromes
-
Chromosome Band
3p22.1
Associated Disorders
DD/NDD, ASD, EPS, ID
Genetic Category
Rare Single Gene Mutation, Syndromic
Relevance to Autism

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016). Two de novo protein-truncating variants in CTNNB1 were identified in ASD probands from the Autism Sequencing Consortium in Satterstrom et al., 2020; two protein-truncating variants in this gene were also observed in case samples from the Danish iPSYCH study in the same report. TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified CTNNB1 as a candidate gene with a false discovery rate (FDR) 0.01. A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in Zhou et al., 2022 identified CTNNB1 as a gene reaching study-wide significance based on 5,754 constraint genes (P < 8.69E-06).

Molecular Function

The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon.

External Links
Gene CardOpen Targets PlatformgnomAD browserSynGO portalPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
Mouse
Entrez GeneMouse Genome InformaticsAllen Brain Atlas
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to CTNNB1 (41 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations O'Roak BJ , et al. (2012) Yes -
2 Support Diagnostic exome sequencing in persons with severe intellectual disability de Ligt J , et al. (2012) No Epilepsy, ASD
3 Support Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders O'Roak BJ , et al. (2012) Yes -
4 Support Dominant ?-catenin mutations cause intellectual disability with recognizable syndromic features Tucci V , et al. (2014) No Autistic features
5 Support A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency Dubruc E , et al. (2014) No -
6 Support Large-scale discovery of novel genetic causes of developmental disorders Deciphering Developmental Disorders Study (2014) No -
7 Recent Recommendation Low load for disruptive mutations in autism genes and their biased transmission Iossifov I , et al. (2015) Yes -
8 Recent Recommendation De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies Homsy J , et al. (2016) No ASD, DD, ID
9 Support Comprehensive molecular testing in patients with high functioning autism spectrum disorder Alvarez-Mora MI , et al. (2016) Yes -
10 Support A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report Winczewska-Wiktor A , et al. (2016) No -
11 Recent Recommendation Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects Dong F , et al. (2016) No -
12 Support Altered proliferation and networks in neural cells derived from idiopathic autistic individuals Marchetto MC , et al. (2016) Yes -
13 Support Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability Lelieveld SH et al. (2016) No -
14 Recent Recommendation Hepatocyte Growth Factor Modulates MET Receptor Tyrosine Kinase and ?-Catenin Functional Interactions to Enhance Synapse Formation Xie Z , et al. (2016) No -
15 Support Clinical exome sequencing: results from 2819 samples reflecting 1000 families Trujillano D , et al. (2016) No DD, ID, microcephaly
16 Support Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals Kharbanda M , et al. (2016) No Hypotonia, spasticity, microcephaly
17 Support A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology Vissers LE , et al. (2017) No -
18 Support Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review Li N , et al. (2017) No -
19 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 -
20 Support Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder Krupp DR , et al. (2017) Yes -
21 Support Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population Monies D , et al. (2019) No Autistic features
22 Support Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
23 Support Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Wang T et al. (2020) Yes -
24 Support - Rossetti LZ et al. (2021) No ASD, stereotypy
25 Support - Kwong AK et al. (2021) No -
26 Support - Ho S et al. (2022) No -
27 Support - Pode-Shakked B et al. (2021) No -
28 Support - Taylor RL et al. (2022) No -
29 Support - Hu C et al. (2022) Yes -
30 Support - Lee S et al. (2022) No ID, autistic features
31 Support - Zhou X et al. (2022) Yes -
32 Support - Yuan B et al. (2023) Yes -
33 Support - Chaves LD et al. (2023) No -
34 Support - Wang J et al. (2023) Yes -
35 Support - Sinibaldi L et al. (2023) No Autistic features, ADHD
36 Support - Ji Y et al. (2023) No Stereotypy
37 Support - et al. () No ASD
38 Support - et al. () No Stereotypy
39 Support - et al. () No ASD, stereotypy
40 Support - et al. () No -
41 Support - et al. () No -
Rare Variants   (118)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.998dup p.Tyr333Ter stop_gained Unknown - - 37895192 et al. ()
c.1420C>T p.Arg474Ter stop_gained Unknown - - 37895192 et al. ()
c.1759C>T p.Arg587Ter stop_gained Unknown - - 37895192 et al. ()
c.1759C>T p.Arg587Ter stop_gained Unknown - - 38438125 et al. ()
c.1081+3_1083del - copy_number_loss Unknown - - 37895192 et al. ()
c.976_979del p.Asn326Ter stop_gained Unknown - - 37895192 et al. ()
- - copy_number_loss De novo - Simplex 24668549 Dubruc E , et al. (2014)
c.242-1G>C - splice_site_variant Unknown - - 34558805 Ho S et al. (2022)
c.367C>T p.Gln123Ter stop_gained Unknown - - 34558805 Ho S et al. (2022)
c.493C>T p.Gln165Ter stop_gained Unknown - - 34558805 Ho S et al. (2022)
c.163G>T p.Glu55Ter stop_gained De novo - - 35935366 Lee S et al. (2022)
c.1759C>T p.Arg587Ter stop_gained Unknown - - 34558805 Ho S et al. (2022)
c.1082-1G>C - splice_site_variant De novo - - 35935366 Lee S et al. (2022)
c.268C>T p.Arg90Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.283C>T p.Arg95Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.241+1G>A - splice_site_variant Unknown - - 33004838 Wang T et al. (2020)
c.1148G>A p.Trp383Ter stop_gained De novo - - 35935366 Lee S et al. (2022)
c.1420C>T p.Arg474Ter stop_gained De novo - - 35935366 Lee S et al. (2022)
c.1543C>T p.Arg515Ter stop_gained De novo - - 35935366 Lee S et al. (2022)
c.1759C>T p.Arg587Ter stop_gained De novo - - 35935366 Lee S et al. (2022)
c.1867C>T p.Gln623Ter stop_gained De novo - - 35935366 Lee S et al. (2022)
c.1081+1G>C - splice_site_variant Unknown - - 33004838 Wang T et al. (2020)
c.82C>G p.Gln28Glu missense_variant Unknown - - 35741772 Hu C et al. (2022)
c.1420C>T p.Arg474Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.367C>T p.Gln123Ter stop_gained De novo - - 33446253 Kwong AK et al. (2021)
c.680dup p.Leu229ThrfsTer5 frameshift_variant Unknown - - 37895192 et al. ()
c.977del p.Asn326IlefsTer2 frameshift_variant Unknown - - 37895192 et al. ()
c.2117C>A p.Pro706His missense_variant Unknown - - 35741772 Hu C et al. (2022)
c.257dup p.Tyr86Ter stop_gained De novo - Simplex 37560515 Ji Y et al. (2023)
c.1603C>T p.Arg535Ter stop_gained De novo - - 36943625 Chaves LD et al. (2023)
c.1874del p.Lys625ArgfsTer16 frameshift_variant Unknown - - 37895192 et al. ()
c.1543C>T p.Arg515Ter stop_gained De novo - - 23033978 de Ligt J , et al. (2012)
c.998dup p.Tyr333Ter stop_gained De novo - - 37455656 Sinibaldi L et al. (2023)
c.999C>A p.Tyr333Ter stop_gained De novo - - 37455656 Sinibaldi L et al. (2023)
c.999del p.Tyr333Ter stop_gained De novo - - 37455656 Sinibaldi L et al. (2023)
c.1013G>C p.Trp338Ser missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1457G>A p.Arg486His missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1582C>T p.Arg528Cys missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1693C>T p.Arg565Cys missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.2017C>T p.Arg673Trp missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.1613T>G p.Leu538Arg missense_variant De novo - - 36881370 Yuan B et al. (2023)
c.1420C>T p.Arg474Ter stop_gained De novo - - 28333917 Vissers LE , et al. (2017)
c.1962T>A p.Tyr654Ter stop_gained De novo - - 33350591 Rossetti LZ et al. (2021)
c.1420C>T p.Arg474Ter stop_gained De novo - - 37455656 Sinibaldi L et al. (2023)
c.1759C>T p.Arg587Ter stop_gained De novo - - 37455656 Sinibaldi L et al. (2023)
c.2089G>T p.Gly697Ter stop_gained Unknown - - 37455656 Sinibaldi L et al. (2023)
c.607C>T p.Gln203Ter stop_gained De novo - - 27479843 Lelieveld SH et al. (2016)
c.999C>G p.Tyr333Ter stop_gained De novo - - 27915094 Kharbanda M , et al. (2016)
c.226C>T p.Gln76Ter stop_gained Unknown - - 27378147 Marchetto MC , et al. (2016)
c.1672C>T p.Arg558Cys stop_gained De novo - Simplex 28514307 Li N , et al. (2017)
c.998dup p.Tyr333Ter frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.1420C>T p.Arg474Ter stop_gained De novo - - 27479843 Lelieveld SH et al. (2016)
c.1420C>T p.Arg474Ter stop_gained De novo - - 27915094 Kharbanda M , et al. (2016)
c.1603C>T p.Arg535Ter stop_gained De novo - - 27915094 Kharbanda M , et al. (2016)
c.1612C>T p.Gln538Ter stop_gained De novo - - 27915094 Kharbanda M , et al. (2016)
c.1801C>T p.Gln601Ter stop_gained De novo - - 27915094 Kharbanda M , et al. (2016)
c.1723G>A p.Gly575Arg missense_variant De novo - - 31130284 Monies D , et al. (2019)
c.976_979del p.Asn326Ter stop_gained De novo - - 37455656 Sinibaldi L et al. (2023)
c.1723G>A p.Gly575Arg missense_variant De novo - - 33350591 Rossetti LZ et al. (2021)
c.1186-18C>T - intron_variant De novo - Simplex 31981491 Satterstrom FK et al. (2020)
c.1904dup p.Ala636SerfsTer12 frameshift_variant De novo - Simplex 38225558 et al. ()
c.1849dup p.Val617GlyfsTer4 frameshift_variant Unknown - - 34558805 Ho S et al. (2022)
c.181del p.Gln61LysfsTer19 frameshift_variant De novo - - 35935366 Lee S et al. (2022)
c.1512G>A p.Trp504Ter stop_gained De novo - Simplex 23160955 O'Roak BJ , et al. (2012)
c.911dup p.Leu304PhefsTer15 frameshift_variant Familial Paternal - 38321498 et al. ()
c.1607T>G p.Leu536Arg missense_variant De novo - Simplex 37393044 Wang J et al. (2023)
c.1749dup p.Val584CysfsTer25 frameshift_variant De novo - - 35935366 Lee S et al. (2022)
c.429del p.Asp144MetfsTer13 frameshift_variant De novo - - 33004838 Wang T et al. (2020)
c.664del p.Ser222ProfsTer20 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.1981C>T p.Gln661Ter stop_gained De novo - Simplex 27848944 Trujillano D , et al. (2016)
c.1685del p.Glu562GlyfsTer8 frameshift_variant De novo - - 26785492 Homsy J , et al. (2016)
c.1127G>A p.Arg376His missense_variant De novo - Simplex 28867142 Krupp DR , et al. (2017)
c.925C>T p.Gln309Ter stop_gained Unknown Not maternal - 23033978 de Ligt J , et al. (2012)
c.2255G>C p.Gly752Ala missense_variant Unknown - - 26845707 Alvarez-Mora MI , et al. (2016)
c.863_864insG p.Thr289AsnfsTer4 frameshift_variant De novo - - 35935366 Lee S et al. (2022)
c.1652C>T p.Thr551Met missense_variant De novo - Simplex 22495309 O'Roak BJ , et al. (2012)
c.1525-3C>G - splice_region_variant De novo - Simplex 31981491 Satterstrom FK et al. (2020)
c.1105_1109del p.His369AspfsTer24 frameshift_variant Unknown - - 34558805 Ho S et al. (2022)
c.680dup p.Leu229ThrfsTer5 frameshift_variant De novo - - 37455656 Sinibaldi L et al. (2023)
c.811del p.Met271TrpfsTer5 frameshift_variant De novo - - 37455656 Sinibaldi L et al. (2023)
c.977del p.Asn326IlefsTer2 frameshift_variant De novo - - 37455656 Sinibaldi L et al. (2023)
c.1434_1435insC p.Glu479ArgfsTer18 frameshift_variant Unknown - - 34558805 Ho S et al. (2022)
c.1925_1926del p.Glu642ValfsTer5 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.2046_2047del p.Phe683GlnfsTer9 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.1740_1743del p.Ala581GlyfsTer12 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.1398_1399del p.Ala467SerfsTer29 frameshift_variant De novo - - 35982159 Zhou X et al. (2022)
c.1005del p.Lys335AsnfsTer10 frameshift_variant De novo - - 33350591 Rossetti LZ et al. (2021)
c.1665dup p.Thr556AspfsTer16 frameshift_variant De novo - - 33350591 Rossetti LZ et al. (2021)
c.1852del p.Leu618SerfsTer23 frameshift_variant De novo - - 37455656 Sinibaldi L et al. (2023)
c.1874del p.Lys625ArgfsTer16 frameshift_variant De novo - - 37455656 Sinibaldi L et al. (2023)
c.646G>A p.Gly216Arg missense_variant De novo - Simplex 34580403 Pode-Shakked B et al. (2021)
c.232C>T p.Gln78Ter stop_gained De novo - Simplex 26968164 Winczewska-Wiktor A , et al. (2016)
c.214_215del p.Gln72ValfsTer9 frameshift_variant De novo - - 33350591 Rossetti LZ et al. (2021)
c.1981C>A p.Arg661= synonymous_variant De novo - Simplex 31981491 Satterstrom FK et al. (2020)
c.1586dup p.Gln530AlafsTer42 frameshift_variant De novo - Multiplex 37560515 Ji Y et al. (2023)
c.1287C>A p.Cys429Ter stop_gained Unknown - Extended multiplex 31130284 Monies D , et al. (2019)
c.705dup p.Gly236ArgfsTer35 frameshift_variant De novo - Simplex 24614104 Tucci V , et al. (2014)
c.1064_1067del p.Pro355LeufsTer3 frameshift_variant De novo - - 28771251 Lionel AC , et al. (2017)
c.(1081+1_1082-1)_(2346+?)del p.? copy_number_loss De novo - - 37455656 Sinibaldi L et al. (2023)
c.776_777del p.Leu259ProfsTer11 frameshift_variant De novo - - 33350591 Rossetti LZ et al. (2021)
c.677_678dup p.Gly227ArgfsTer16 frameshift_variant De novo - - 37455656 Sinibaldi L et al. (2023)
c.1272_1275del p.Ser425ThrfsTer11 frameshift_variant De novo - - 23033978 de Ligt J , et al. (2012)
c.1925_1926del p.Glu642ValfsTer5 frameshift_variant De novo - - 37455656 Sinibaldi L et al. (2023)
c.802_809del p.Gly268AsnfsTer22 frameshift_variant De novo - - 27915094 Kharbanda M , et al. (2016)
Deletionof exons 8-15 of the CTNNB1 gene. - copy_number_loss De novo - - 35935366 Lee S et al. (2022)
c.1925_1926del p.Glu642ValfsTer5 frameshift_variant De novo - Simplex 37393044 Wang J et al. (2023)
c.242-6T>G - splice_site_variant De novo - - 25533962 Deciphering Developmental Disorders Study (2014)
c.2092_2096dup p.Ile700LeufsTer37 frameshift_variant Familial Maternal - 34558805 Ho S et al. (2022)
c.884C>G p.Ala295Gly missense_variant Familial Both parents Simplex 35246174 Taylor RL et al. (2022)
c.1016_1025delinsT p.Thr339_Arg342delinsIle inframe_indel De novo - - 33350591 Rossetti LZ et al. (2021)
c.1930del p.Leu644PhefsTer35 frameshift_variant De novo - Simplex 31981491 Satterstrom FK et al. (2020)
c.1925_1926del p.Glu642GlyfsTer15 frameshift_variant De novo - Simplex 27848944 Trujillano D , et al. (2016)
c.1043_1044del p.Ser348CysfsTer4 frameshift_variant De novo - Simplex 31981491 Satterstrom FK et al. (2020)
c.1603C>T p.Arg535Ter stop_gained De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.1981C>T p.Arg661Ter stop_gained De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.998dup p.Tyr333Ter frameshift_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.1690del p.Val564SerfsTer6 frameshift_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.1041_1044del p.Val349AlafsTer9 frameshift_variant De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
Common Variants  

No common variants reported.

SFARI Gene score
1

High Confidence

Score Delta: Score remained at 1

criteria met
See SFARI Gene'scoring criteria
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.

4/1/2021
1
icon
1

Score remained at 1

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Exome sequencing in paediatric patients with movement disorders2021]
1/1/2021
1
icon
1

Score remained at 1

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype2021]
10/1/2020
1
icon
1

Score remained at 1

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020]
1/1/2020
1
icon
1

Score remained at 1

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism2020]
10/1/2019
3
icon
1

Decreased from 3 to 1

New Scoring Scheme
Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[New Scoring Scheme]
7/1/2019
3
icon
3

Decreased from 3 to 3

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.2019]
10/1/2017
3
icon
3

Decreased from 3 to 3

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.2017]
7/1/2017
3
icon
3

Decreased from 3 to 3

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.2017]
4/1/2017
3
icon
3

Decreased from 3 to 3

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.2012] [Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.2012] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Diagnostic exome sequencing in persons with severe intellectual disability.2012] [Dominant -catenin mutations cause intellectual disability with recognizable syndromic features.2014] [A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.2014] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.2016] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.2016] [Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects.2016] [Altered proliferation and networks in neural cells derived from idiopathic autistic individuals.2016] [Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability2016] [Hepatocyte Growth Factor Modulates MET Receptor Tyrosine Kinase and -Catenin Functional Interactions to Enhance Synapse Formation.2016] [Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016] [Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.2016] [A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.2017] [Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, m...2017]
1/1/2017
3
icon
3

Decreased from 3 to 3

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.2016]
10/1/2016
3
icon
3

Decreased from 3 to 3

Description

Two de novo variants (one nonsense, one missense) in the CTNNB1 gene were identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Clinical exome sequencing: results from 2819 samples reflecting 1000 families.2016]
7/1/2016
3
icon
3

Decreased from 3 to 3

Description

Two de novo LoF variants (one nonsense, one missense) identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Altered proliferation and networks in neural cells derived from idiopathic autistic individuals.2016] [Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability2016] [Hepatocyte Growth Factor Modulates MET Receptor Tyrosine Kinase and -Catenin Functional Interactions to Enhance Synapse Formation.2016]
4/1/2016
3
icon
3

Decreased from 3 to 3

Description

Two de novo LoF variants (one nonsense, one missense) identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104). De novo LoF variants in CTNNB1 were identified in a total of six patients from the Deciphering Developmental Disorders study (PMID 25533962). A de novo LoF variant in CTNNB1 was identifed in a proband from the Pediatric Cardiac Genetics Consortium who presented with ASD, developmental delay, and intellectual disability in addition to congenital heart disease (Homsy et al., 2015). Conditional knockout mice with CTNNB1-deficient parvalbumin interneurons exhibited significantly impaired object recognition and social interactions, elevated repetitive behaviors, and increased anxiety (Dong et al., 2016).

Reports Added
[Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.2012] [Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.2012] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Diagnostic exome sequencing in persons with severe intellectual disability.2012] [Dominant -catenin mutations cause intellectual disability with recognizable syndromic features.2014] [A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.2014] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.2016] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016] [A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.2016] [Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects.2016]
1/1/2016
3
icon
3

Decreased from 3 to 3

Description

Two de novo LoF variants (one nonsense, one missense) identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LoF variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104).

Reports Added
[Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.2012] [Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.2012] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Diagnostic exome sequencing in persons with severe intellectual disability.2012] [Dominant -catenin mutations cause intellectual disability with recognizable syndromic features.2014] [A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.2014] [Low load for disruptive mutations in autism genes and their biased transmission.2015] [De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.2016] [Comprehensive molecular testing in patients with high functioning autism spectrum disorder.2016]
1/1/2015
3
icon
3

Decreased from 3 to 3

Description

Two de novo LGD variants (one nonsense, one missense) identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LGD variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104).

Reports Added
[Large-scale discovery of novel genetic causes of developmental disorders.2014]
7/1/2014
No data
icon
3

Increased from No data to 3

Description

Two de novo LGD variants (one nonsense, one missense) identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LGD variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104).

4/1/2014
No data
icon
3

Increased from No data to 3

Description

Two de novo LGD variants (one nonsense, one missense) identified in unrelated simplex ASD cases (PMIDs 22495309 and 23160955). Three de novo LGD variants in CTNNB1 (two frameshift, one nonsense) have been identified in unrelated patients with a similar phenotypic profile: severe ID, absent or very limited speech, microcephaly, and spasticity (PMIDs 23033978 and 24614104).

Reports Added
[A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.2014] [Diagnostic exome sequencing in persons with severe intellectual disability.2012] [Dominant -catenin mutations cause intellectual disability with recognizable syndromic features.2014]
Krishnan Probability Score

Score 0.49018309626028

Ranking 6229/25841 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.
Original Source
ExAC Score

Score 0.99981274950371

Ranking 765/18225 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
Original Source
Iossifov Probability Score

Score 0.845

Ranking 199/239 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
Original Source
Sanders TADA Score

Score 0.4809139690573

Ranking 409/18665 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).
Original Source
Larsen Cumulative Evidence Score

Score 14

Ranking 137/461 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.
Original Source
Zhang D Score

Score 0.30610409108621

Ranking 2646/20870 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.
Original Source
External PIN Data
BioGRIDHuman Protein Reference Database
Interactome
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
AJAP1 Adherens junction-associated protein 1 Human Protein Binding 55966 Q9UKB5
AKT1 v-akt murine thymoma viral oncogene homolog 1 Human Protein Binding 207 P31749
AMOT angiomotin Human Protein Binding 154796 Q4VCS5
APC2 adenomatosis polyposis coli 2 Human RNA Binding 10297 O95996
BCL3 B-cell CLL/lymphoma 3 Human Protein Binding 602 P20749
Bcl9l B-cell CLL/lymphoma 9-like Mouse Protein Binding 80288 Q67FY2
BOC BOC cell adhesion associated, oncogene regulated Human Protein Binding 91653 Q96DN7
C6ORF26 Suppressor APC domain-containing protein 1 Human Protein Binding 401251 Q5SSQ6-2
CA9 Carbonic anhydrase 9 Human Protein Binding 768 Q16790
CALCOCO1 calcium binding and coiled-coil domain 2 Chicken Protein Binding 419993 E1BRX6
CBL Cas-Br-M (murine) ecotropic retroviral transforming sequence Human Protein Modification 867 P22681
CCNA1 Cyclin-A1 Human Protein Binding 8900 P78396
CCNE1 cyclin E1 Human Protein Binding 898 P24864
CDH11 Cadherin-11 Human Protein Binding 1009 P55287
cdh3-b Beta-catenin-interacting protein 1 Human Protein Binding 594865 Q9NSA3
CDH8 cadherin 8, type 2 Human Protein Binding 1006 P55286
CDON cell adhesion associated, oncogene regulated Human Protein Binding 50937 Q4KMG0
COPS3 COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) Human Protein Binding 8533 Q9UNS2
CSNK1D casein kinase 1, delta Rat Protein Modification 64462 Q06486
DDB1 damage-specific DNA binding protein 1, 127kDa Human Protein Binding 1642 Q16531
DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1 Human Protein Binding 1653 A3RJH1
ERBB2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) Human Protein Binding 2064 P04626
FANCL Fanconi anemia, complementation group L Human Protein Modification 55120 Q9NW38
FOXO4 forkhead box O4 Human Protein Binding 4303 P98177
GLIS2 Zinc finger protein GLIS2 Human Protein Binding 84662 Q9BZE0
GRIK2 glutamate receptor, ionotropic, kainate 2 Rat Protein Binding 54257 P42260
HDAC6 histone deacetylase 6 Human Protein Modification 10013 Q9UBN7
HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 Human Protein Binding 51191 B4DXV3
HINT1 histidine triad nucleotide binding protein 1 Human Protein Binding 3094 P49773
HTT Huntingtin Human Protein Binding 3064 P42858
ISG15 ISG15 ubiquitin-like modifier Human Protein Binding 9636 P05161
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) Human Protein Binding 3675 P26006
KAT2A K(lysine) acetyltransferase 2A Human Protein Binding 2648 Q92830
LATS2 LATS, large tumor suppressor, homolog 2 (Drosophila) Human Protein Binding 26524 Q9NRM7
LDHB lactate dehydrogenase B Human Protein Binding 3945 P07195
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 Human Protein Binding 9863 Q86UL8
MAPK8 mitogen-activated protein kinase 8 Human Protein Modification 5599 P45983
MAPK9 mitogen-activated protein kinase 9 Human Protein Modification 5601 P45984
MEN1 multiple endocrine neoplasia I Human Protein Binding 4221 O00255
MICAL-L2 MICAL-like protein 2 Human Direct Regulation 79778 Q8IY33
NONO non-POU domain containing, octamer-binding Human Protein Binding 4841 Q15233
NUP62 nucleoporin 62kDa Human Protein Binding 23636 P37198
Pax6 paired box gene 6 Mouse Direct Regulation 18508 P63015
PCDH9 protocadherin 9 Human DNA Binding 5101 Q9HC56
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 Human Protein Binding 5300 Q13526
PITX2 paired-like homeodomain 2 Human Protein Binding 5308 Q99697
PML promyelocytic leukemia Human Protein Binding 5371 P29590
PROP1 Homeobox protein prophet of Pit-1 Human Protein Binding 5626 O75360
PRPF6 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) Human Protein Binding 24148 O94906
PTGS2 Prostaglandin G/H synthase 2 Human RNA Binding 5743 P35354
PTPN1 protein tyrosine phosphatase, non-receptor type 1 Human Protein Binding 5770 P18031
PTPRU protein tyrosine phosphatase, receptor type, U Human Protein Binding 10076 Q92729
RB1CC1 RB1-inducible coiled-coil 1 Human Protein Binding 9821 Q8TDY2
RBMX RNA binding motif protein, X-linked Human Protein Binding 27316 P38159
RPLP2 ribosomal protein, large, P2 Human Protein Binding 6181 P05387
RXRA retinoid X receptor, alpha Human Protein Binding 6256 F1D8Q5
SATB1 SATB homeobox 1 Human Protein Binding 6304 Q01826
SLAMF7 SLAM family member 7 Human Protein Binding 57823 Q9NQ25-3
SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila) Human Protein Binding 6839 O43463
TAX1BP3 Tax1-binding protein 3 Mouse Protein Binding 30851 Q9DBG9
TIP60 Histone acetyltransferase KAT5 Human Protein Binding 10524 Q92993
UHRF2 ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase Human Protein Binding 115426 Q96PU4
VCL vinculin Human Protein Binding 7414 B3KXA2
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