AutismKB 2.0

Evidence Details for SIN3A


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Basic Information Top
Gene Symbol:SIN3A ( DKFZp434K2235,FLJ90319,KIAA0700 )
Gene Full Name: SIN3 homolog A, transcription regulator (yeast)
Band: 15q24.2
Quick LinksEntrez ID:25942; OMIM: 607776; Uniprot ID:SIN3A_HUMAN; ENSEMBL ID: ENSG00000169375; HGNC ID: 19353
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SIN3A|25942|nucleotide
ATGAAGCGGCGTTTGGATGACCAGGAGTCACCGGTGTATGCAGCCCAGCAGCGTCGGATCCCTGGCAGCACAGAGGCTTTTCCTCACCAGCACCGGGTGCTTGCC
CCTGCCCCTCCTGTGTATGAAGCAGTGTCTGAGACCATGCAGTCAGCTACGGGAATTCAGTACTCTGTAACACCCAGCTACCAGGTTTCAGCCATGCCACAGAGC
TCCGGCAGTCATGGGCCCGCTATAGCAGCAGTTCATAGCAGCCATCATCACCCAACAGCGGTGCAGCCCCACGGAGGCCAGGTGGTCCAGAGTCATGCTCATCCA
GCCCCACCAGTTGCACCAGTGCAGGGACAGCAGCAATTTCAGAGGCTGAAGGTGGAGGATGCGCTATCTTATCTTGACCAGGTGAAGCTGCAGTTTGGTAGTCAG
CCTCAGGTCTACAATGATTTCCTTGACATCATGAAGGAATTTAAATCTCAGAGCATCGACACCCCAGGAGTGATTAGTCGTGTGTCCCAGCTATTCAAAGGCCAC
CCCGATCTGATAATGGGATTCAACACCTTCTTGCCCCCTGGCTACAAAATTGAGGTGCAAACCAATGACATGGTGAATGTGACAACTCCTGGCCAGGTTCATCAG
ATTCCCACCCATGGCATCCAGCCACAGCCTCAACCACCACCCCAACATCCTTCCCAGCCTTCAGCCCAGTCAGCCCCAGCTCCTGCCCAGCCAGCTCCTCAGCCC
CCACCTGCCAAAGTCAGCAAGCCCTCCCAACTGCAAGCACATACTCCGGCCAGTCAGCAGACTCCCCCACTTCCACCGTATGCATCCCCACGTTCTCCGCCGGTC
CAGCCTCACACACCAGTGACAATCTCGTTGGGAACGGCCCCATCCTTGCAGAACAATCAACCTGTGGAGTTTAATCATGCCATCAACTATGTTAATAAGATCAAG
AACAGATTTCAGGGCCAACCAGACATCTACAAAGCATTCCTGGAGATTTTGCACACATATCAGAAAGAGCAGAGAAATGCCAAGGAAGCTGGAGGAAACTACACT
CCAGCATTGACAGAGCAGGAGGTGTATGCCCAGGTTGCTCGTCTCTTTAAAAACCAGGAAGATTTGTTGTCAGAGTTTGGACAATTCCTACCAGATGCCAACAGC
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>SIN3A|25942|protein
MKRRLDDQESPVYAAQQRRIPGSTEAFPHQHRVLAPAPPVYEAVSETMQSATGIQYSVTPSYQVSAMPQSSGSHGPAIAAVHSSHHHPTAVQPHGGQVVQSHAHP
APPVAPVQGQQQFQRLKVEDALSYLDQVKLQFGSQPQVYNDFLDIMKEFKSQSIDTPGVISRVSQLFKGHPDLIMGFNTFLPPGYKIEVQTNDMVNVTTPGQVHQ
IPTHGIQPQPQPPPQHPSQPSAQSAPAPAQPAPQPPPAKVSKPSQLQAHTPASQQTPPLPPYASPRSPPVQPHTPVTISLGTAPSLQNNQPVEFNHAINYVNKIK
NRFQGQPDIYKAFLEILHTYQKEQRNAKEAGGNYTPALTEQEVYAQVARLFKNQEDLLSEFGQFLPDANSSVLLSKTTAEKVDSVRNDHGGTVKKPQLNNKPQRP
SQNGCQIRRHPTGTTPPVKKKPKLLNLKDSSMADASKHGGGTESLFFDKVRKALRSAEAYENFLRCLVIFNQEVISRAELVQLVSPFLGKFPELFNWFKNFLGYK
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 1 (4) 0 (0) 0 (0) 0 (0) 2 (2) 0 (1) 0 (0) 0 (0) 22 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018