Human Gene Module / Chromosome 5 / NSD1

NSD1nuclear receptor binding SET domain protein 1

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
10 / 19
Rare Variants / Common Variants
35 / 0
Aliases
NSD1, ARA267,  DKFZp666C163,  FLJ10684,  FLJ22263,  FLJ44628,  KMT3B,  SOTOS,  STO
Associated Syndromes
Sotos syndrome
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
5q35.3
Associated Disorders
EPS, ASD, DD/NDD, ID
Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

Molecular Function

This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.

Reports related to NSD1 (19 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Haploinsufficiency of NSD1 causes Sotos syndrome. Kurotaki N , et al. (2002) No ASD
2 Support Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. Buxbaum JD , et al. (2007) Yes -
3 Support Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Micro... Rosenfeld JA , et al. (2013) No -
4 Support Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut... Koshimizu E , et al. (2013) Yes ID, epilepsy
5 Support Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S , et al. (2014) Yes -
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 Support The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Redin C , et al. (2016) No -
9 Support Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Trujillano D , et al. (2016) No DD
10 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017) Yes -
11 Support A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Vissers LE , et al. (2017) No -
12 Support Neurogenetic analysis of childhood disintegrative disorder. Gupta AR , et al. (2017) No -
13 Support Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Li J , et al. (2017) Yes -
14 Support Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability. Han JY , et al. (2019) No Sotos syndrome
15 Support Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes Feliciano P et al. (2019) Yes -
16 Support Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort. Wu H , et al. (2019) Yes Macrocephaly
17 Support Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism Satterstrom FK et al. (2020) Yes -
18 Support Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability Chevarin M et al. (2020) No Marfanoid habitus
19 Support Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy Lee J et al. (2020) Yes -
Rare Variants   (35)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - translocation - - - 11896389 Kurotaki N , et al. (2002)
- - translocation De novo NA - 27841880 Redin C , et al. (2016)
- - copy_number_loss - - Simplex 11896389 Kurotaki N , et al. (2002)
C>G - intron_variant - Maternal - 18001468 Buxbaum JD , et al. (2007)
T>C - intron_variant - Paternal - 18001468 Buxbaum JD , et al. (2007)
G>A - splice_site_variant De novo NA - 11896389 Kurotaki N , et al. (2002)
c.6349C>T p.Arg2117Ter stop_gained Unknown - - 32477112 Lee J et al. (2020)
c.2596G>T p.Glu866Ter stop_gained De novo NA - 30631761 Han JY , et al. (2019)
- - copy_number_variation De novo NA Simplex 32277047 Chevarin M et al. (2020)
c.5998insT - frameshift_variant De novo NA - 11896389 Kurotaki N , et al. (2002)
c.1310C>G p.Ser437Ter stop_gained De novo NA - 11896389 Kurotaki N , et al. (2002)
c.1026T>A p.Cys342Ter stop_gained De novo NA Simplex 31674007 Wu H , et al. (2019)
c.1317C>T p.Asn439= stop_gained De novo NA Simplex 28263302 C Yuen RK et al. (2017)
c.1811G>T p.Arg604Leu missense_variant - Paternal - 18001468 Buxbaum JD , et al. (2007)
c.2465C>G p.Ser822Cys missense_variant - Maternal - 18001468 Buxbaum JD , et al. (2007)
c.2835T>C p.Ser945= synonymous_variant - Maternal - 18001468 Buxbaum JD , et al. (2007)
c.4496A>G p.Glu1499Gly missense_variant - Paternal - 18001468 Buxbaum JD , et al. (2007)
c.3880C>T p.Pro1294Ser missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.4648G>A p.Glu1550Lys missense_variant Familial - Simplex 28831199 Li J , et al. (2017)
c.4855T>C p.Cys1619Arg missense_variant De novo NA - 25363760 De Rubeis S , et al. (2014)
c.1492C>T p.Arg498Ter stop_gained De novo NA Simplex 27848944 Trujillano D , et al. (2016)
c.2323C>T p.Gln775Ter stop_gained De novo NA Simplex 27848944 Trujillano D , et al. (2016)
c.2087T>C p.Val696Ala missense_variant Unknown - Unknown 24066114 Koshimizu E , et al. (2013)
c.6020T>C p.Ile2007Thr missense_variant De novo NA Simplex 32277047 Chevarin M et al. (2020)
c.1331dup p.Gly445TrpfsTer8 frameshift_variant De novo NA - 28333917 Vissers LE , et al. (2017)
c.1404T>A p.His468Gln missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.6436T>C p.Cys2146Arg missense_variant De novo NA Simplex 31981491 Satterstrom FK et al. (2020)
c.708_709del p.Asn238Ter frameshift_variant Familial Maternal - 31452935 Feliciano P et al. (2019)
c.3536del p.Glu1179GlyfsTer40 frameshift_variant De novo NA Simplex 11896389 Kurotaki N , et al. (2002)
c.4379-2A>G - splice_site_variant De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.6641del p.Met2214SerfsTer95 frameshift_variant Familial Maternal Multiplex 32277047 Chevarin M et al. (2020)
c.339C>T p.Cys113= synonymous_variant Familial Maternal, Paternal Multiplex 18001468 Buxbaum JD , et al. (2007)
c.3697C>T p.Arg1233Trp missense_variant De novo NA Multiplex (monozygotic twins) 28392909 Gupta AR , et al. (2017)
c.6605G>A p.Cys2202Tyr missense_variant De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
c.1292_1293del p.Tyr431Ter frameshift_variant De novo NA Simplex 25533962 Deciphering Developmental Disorders Study (2014)
Common Variants  

No common variants reported.

SFARI Gene score
1

High Confidence

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

Score Delta: Score remained at S

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.

4/1/2020
S
icon
S

Score remained at S

Description

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

1/1/2020
S
icon
S

Score remained at S

Description

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

10/1/2019
S
icon
1

Increased from S to 1

New Scoring Scheme
Description

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

1/1/2019
S
icon
S

Increased from S to S

Description

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

10/1/2017
S
icon
S

Increased from S to S

Description

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

4/1/2017
S
icon
S

Increased from S to S

Description

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

10/1/2016
S
icon
S

Increased from S to S

Description

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

1/1/2016
1/1/2015
S
icon
S

Increased from S to S

Description

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations of the NSD1 gene have been identified with Sotos syndrome (Kurotaki et al., 2002). One study identified several rare variations of the NSD1 gene in individuals with ASD, although the variants were considered nonpathogenic (Buxbaum et al., 2007).

Krishnan Probability Score

Score 0.40300246435443

Ranking 23293/25841 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 0.99999999917916

Ranking 96/18225 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 0.906

Ranking 130/239 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 0.93736032908946

Ranking 13499/18665 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).
Zhang D Score

Score 0.54011537026906

Ranking 286/20870 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
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12 Human DNA Binding 26154 Q86UK0
AFAP1 actin filament associated protein 1 Human DNA Binding 60312 Q8N556
AJUBA ajuba LIM protein Human DNA Binding 84962 Q96IF1
AKAP3 A kinase (PRKA) anchor protein 3 Human DNA Binding 10566 O75969
ALDH3A1 aldehyde dehydrogenase 3 family, member A1 Human DNA Binding 218 P30838
ALDH3B1 aldehyde dehydrogenase 3 family, member B1 Human DNA Binding 221 P43353
ALLC allantoicase Human DNA Binding 55821 Q8N6M5
ARHGEF35 Rho guanine nucleotide exchange factor (GEF) 35 Human DNA Binding 445328 A5YM69
ATG9B ATG9 autophagy related 9 homolog B (S. cerevisiae) Human DNA Binding 285973 Q674R7
AVPI1 arginine vasopressin-induced 1 Human DNA Binding 60370 Q5T686
B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 Human DNA Binding 8702 O60513
BARHL2 BarH-like homeobox 2 Human DNA Binding 343472 Q9NY43
BATF3 basic leucine zipper transcription factor, ATF-like 3 Human DNA Binding 55509 Q9NR55
BCL2L10 BCL2-like 10 (apoptosis facilitator) Human DNA Binding 10017 Q9HD36
BCMO1 beta-carotene 15,15'-monooxygenase 1 Human DNA Binding 53630 Q9HAY6
BMP4 bone morphogenetic protein 4 Human DNA Binding 652 P12644
C15orf54 chromosome 15 open reading frame 54 Human DNA Binding 400360 Q8N8G6
C19orf73 chromosome 19 open reading frame 73 Human DNA Binding 55150 Q9NVV2
C3orf65 chromosome 3 open reading frame 65 Human DNA Binding 646600 Q96M15
C8orf47 chromosome 8 open reading frame 47 Human DNA Binding 203111 Q6P6B1
CAMKK1 calcium/calmodulin-dependent protein kinase kinase 1, alpha Human DNA Binding 84254 Q8N5S9
CAPN3 calpain 3, (p94) Human DNA Binding 825 P20807
CARD14 caspase recruitment domain family, member 14 Human DNA Binding 79092 Q9BXL6
CD6 CD6 molecule Human DNA Binding 923 P30203
CDC25C cell division cycle 25 homolog C (S. pombe) Human DNA Binding 995 P30307
CDRT15 CMT1A duplicated region transcript 15 Human DNA Binding 146822 Q96T59
CGB1 chorionic gonadotropin, beta polypeptide 1 Human DNA Binding 114335 A6NKQ9
CGB8 chorionic gonadotropin, beta polypeptide 8 Human DNA Binding 94115 P01233
CNTD1 cyclin N-terminal domain containing 1 Human DNA Binding 124817 Q8N815
COL17A1 collagen, type XVII, alpha 1 Human DNA Binding 1308 Q9UMD9
CYBASC3 cytochrome b, ascorbate dependent 3 Human DNA Binding 220002 Q8NBI2
CYP4F12 cytochrome P450, family 4, subfamily F, polypeptide 12 Human DNA Binding 66002 Q9HCS2
DNAJB8 DnaJ (Hsp40) homolog, subfamily B, member 8 Human DNA Binding 165721 Q8NHS0
DNAL4 dynein, axonemal, light chain 4 Human DNA Binding 10126 O96015
DNASE1L3 deoxyribonuclease I-like 3 Human DNA Binding 1776 Q13609
DNASE2B deoxyribonuclease II beta Human DNA Binding 58511 Q8WZ79
DOK2 docking protein 2, 56kDa Human DNA Binding 9046 O60496
DPCR1 diffuse panbronchiolitis critical region 1 Human DNA Binding 135656 Q3MIW9
EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 Human DNA Binding 80820 Q7L9B9
EREG epiregulin Human DNA Binding 2069 O14944
ESAM endothelial cell adhesion molecule Human DNA Binding 90952 Q96AP7
ETV7 ets variant 7 Human DNA Binding 51513 Q9Y603
FAM131C family with sequence similarity 131, member C Human DNA Binding 348487 Q96AQ9
FAM195A family with sequence similarity 195, member A Human DNA Binding 84331 Q9BUT9
GPR87 G protein-coupled receptor 87 Human DNA Binding 53836 Q9BY21
GPX1 glutathione peroxidase 1 Human DNA Binding 2876 P07203
HEYL hairy/enhancer-of-split related with YRPW motif-like Human DNA Binding 26508 Q9NQ87
HIPK4 homeodomain interacting protein kinase 4 Human DNA Binding 147746 Q8NE63
HIST2H3C histone cluster 2, H3c African clawed frog Protein Modification 100049126 P84233
HS3ST6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 Human DNA Binding 64711 Q96QI5
IFITM3 interferon induced transmembrane protein 3 Human DNA Binding 10410 Q01628
KLK14 kallikrein-related peptidase 14 Human DNA Binding 43847 Q9P0G3
KLK6 kallikrein-related peptidase 6 Human DNA Binding 5653 Q92876
KRT3 keratin 3 Human DNA Binding 3850 P12035
KRT6A keratin 6A Human DNA Binding 3853 P02538
KRT6C keratin 6C Human DNA Binding 286887 P48668
KRT73 keratin 73 Human DNA Binding 319101 Q86Y46
KRTAP5-1 keratin associated protein 5-1 Human DNA Binding 387264 Q6L8H4
KRTAP5-11 keratin associated protein 5-11 Human DNA Binding 440051 Q6L8G4
KRTAP5-2 keratin associated protein 5-2 Human DNA Binding 440021 Q701N4
KRTAP5-3 keratin associated protein 5-3 Human DNA Binding 387266 Q6L8H2
KRTAP5-4 keratin associated protein 5-4 Human DNA Binding 387267 Q6L8H1
KRTAP5-7 keratin associated protein 5-7 Human DNA Binding 440050 Q6L8G8
LACTB2 lactamase, beta 2 Human DNA Binding 51110 Q53H82
LOC255187 hCG1980447 Human DNA Binding 255187 N/A
LOXL4 lysyl oxidase-like 4 Human DNA Binding 84171 Q96JB6
LRRC23 leucine rich repeat containing 23 Human DNA Binding 10233 Q53EV4
LYSMD2 LysM, putative peptidoglycan-binding, domain containing 2 Human DNA Binding 256586 Q8IV50
MRVI1 murine retrovirus integration site 1 homolog Human DNA Binding 10335 Q9Y6F6
NBPF11 neuroblastoma breakpoint family, member 11 Human DNA Binding 200030 Q86T75
NBPF24 neuroblastoma breakpoint family, member 24 Human DNA Binding 728912 Q5RGN0
NCF2 neutrophil cytosolic factor 2 Human DNA Binding 4688 P19878
NKIRAS1 NFKB inhibitor interacting Ras-like 1 Human DNA Binding 28512 Q9NYS0
NUPR1 nuclear protein, transcriptional regulator, 1 Human DNA Binding 26471 O60356
OR10J3 olfactory receptor, family 10, subfamily J, member 3 Human DNA Binding 441911 Q5JRS4
OR10K1 olfactory receptor, family 10, subfamily K, member 1 Human DNA Binding 391109 Q8NGX5
OR10V1 olfactory receptor, family 10, subfamily V, member 1 Human DNA Binding 390201 Q8NGI7
OR2D2 olfactory receptor, family 2, subfamily D, member 2 Human DNA Binding 120776 Q9H210
OR51B4 olfactory receptor, family 51, subfamily B, member 4 Human DNA Binding 79339 Q9Y5P0
P2RY12 purinergic receptor P2Y, G-protein coupled, 12 Human DNA Binding 64805 Q9H244
PAQR7 progestin and adipoQ receptor family member VII Human DNA Binding 164091 Q86WK9
PCDHB8 protocadherin beta 8 Human DNA Binding 56128 Q9UN66
PCYT1A phosphate cytidylyltransferase 1, choline, alpha Human DNA Binding 5130 P49585
PGBD3 piggyBac transposable element derived 3 Human DNA Binding 267004 Q8N328
PRKCDBP protein kinase C, delta binding protein Human DNA Binding 112464 Q969G5
PSG2 pregnancy specific beta-1-glycoprotein 2 Human DNA Binding 5670 P11465
PSG6 pregnancy specific beta-1-glycoprotein 6 Human DNA Binding 5675 Q00889
PSG7 pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) Human DNA Binding 5676 Q13046
RAD9B RAD9 homolog B (S. pombe) Human DNA Binding 144715 Q6WBX8
RBKS ribokinase Human DNA Binding 64080 Q9H477
RDHE2 short chain dehydrogenase/reductase family 16C, member 5 Human DNA Binding 195814 Q8N3Y7
REXO1L1 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 Human DNA Binding 254958 Q8IX06
RORB RAR-related orphan receptor B Human DNA Binding 6096 Q92753
SDHAF2 succinate dehydrogenase complex assembly factor 2 Human DNA Binding 54949 Q9NX18
SELP selectin P (granule membrane protein 140kDa, antigen CD62) Human DNA Binding 6403 P16109
SEMA6C sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C Human DNA Binding 10500 Q9H3T2
SHCBP1L SHC SH2-domain binding protein 1-like Human DNA Binding 81626 Q9BZQ2
SLC17A6 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 Human DNA Binding 57084 Q9P2U8
SLC25A45 solute carrier family 25, member 45 Human DNA Binding 283130 Q8N413
SLPI secretory leukocyte peptidase inhibitor Human DNA Binding 6590 P03973
ST6GALNAC4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 Human DNA Binding 27090 Q9H4F1
STRA8 stimulated by retinoic acid gene 8 homolog (mouse) Human DNA Binding 346673 Q7Z7C7
TAS2R7 taste receptor, type 2, member 7 Human DNA Binding 50837 Q9NYW3
TASP1 taspase, threonine aspartase, 1 Human DNA Binding 55617 Q9H6P5
TBC1D3 TBC1 domain family, member 3 Human DNA Binding 729873 Q8IZP1
TBC1D3B TBC1 domain family, member 3B Human DNA Binding 414059 A6NDS4
TBX10 T-box 10 Human DNA Binding 347853 O75333
TESC tescalcin Human DNA Binding 54997 Q96BS2
TM4SF18 transmembrane 4 L six family member 18 Human DNA Binding 116441 Q96CE8
TM4SF20 transmembrane 4 L six family member 20 Human DNA Binding 79853 Q53R12
TMEM173 transmembrane protein 173 Human DNA Binding 340061 Q86WV6
TMEM99 transmembrane protein 99 Human DNA Binding 147184 Q8N816
TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 Human DNA Binding 944 P32971
TNNT1 troponin T type 1 (skeletal, slow) Human DNA Binding 7138 P13805
TRPV6 transient receptor potential cation channel, subfamily V, member 6 Human DNA Binding 55503 Q9H1D0
TSPEAR thrombospondin-type laminin G domain and EAR repeats Human DNA Binding 54084 Q8WU66
VPS29 vacuolar protein sorting 29 homolog (S. cerevisiae) Human DNA Binding 51699 Q9UBQ0
WBSCR16 Williams-Beuren syndrome chromosome region 16 Human DNA Binding 81554 Q96I51
XKR9 XK, Kell blood group complex subunit-related family, member 9 Human DNA Binding 389668 Q5GH70
ZDHHC15 zinc finger, DHHC-type containing 15 Human DNA Binding 158866 Q96MV8
ZFY Zinc finger Y-chromosomal protein Human Protein Binding 7544 Q24JR0
Zkscan17 zinc finger with KRAB and SCAN domains 17 Mouse Protein Binding 268417 Q5SXI5
ZNF323 zinc finger protein 323 Human DNA Binding 64288 Q96LW9
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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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