AutismKB 2.0

Evidence Details for SIN3B


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Basic Information Top
Gene Symbol:SIN3B ( KIAA0700 )
Gene Full Name: SIN3 homolog B, transcription regulator (yeast)
Band: 19p13.12
Quick LinksEntrez ID:23309; OMIM: 607777; Uniprot ID:SIN3B_HUMAN; ENSEMBL ID: ENSG00000127511; HGNC ID: 19354
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SIN3B|23309|nucleotide
ATGGCGCACGCTGGCGGTGGCAGCGGTGGCAGCGGTGCCGGCGGCCCCGCGGGCCGGGGGCTGAGCGGCGCCCGCTGGGGTCGCTCGGGCTCCGCAGGCCACGAG
AAGCTGCCGGTGCACGTAGAAGACGCCCTCACCTATCTGGACCAGGTGAAGATCCGCTTTGGCAGCGACCCTGCCACCTACAACGGCTTCCTGGAGATCATGAAG
GAGTTCAAAAGCCAGAGCATCGATACTCCTGGAGTCATCAGACGTGTCTCGCAGCTCTTCCACGAGCACCCTGACCTCATTGTTGGATTCAACGCTTTTCTTCCC
CTCGGATATAGAATAGACATTCCCAAGAATGGCAAGTTAAACATACAGTCGCCTCTGACAAGCCAGGAGAATTCGCACAACCACGGGGACGGTGCAGAGGACTTC
AAGCAGCAGGTGCCGTATAAAGAGGACAAACCCCAGGTGCCCCTGGAGTCCGATTCCGTGGAATTCAACAACGCCATCAGCTATGTGAATAAGATTAAAACCCGC
TTCCTAGACCACCCAGAAATCTACAGGTCATTCCTGGAGATCCTGCACACGTACCAGAAGGAGCAGCTGAACACGAGGGGCCGGCCATTCCGAGGCATGTCTGAA
GAGGAGGTGTTCACCGAGGTGGCCAACCTCTTCCGGGGCCAGGAGGACCTGCTCTCAGAGTTTGGACAGTTCCTGCCCGAAGCCAAGCGGTCTCTGTTCACAGGA
AACGGGCCGTGCGAGATGCACAGCGTGCAGAAGAACGAGCACGACAAGACCCCGGAGCACAGCAGGAAGCGCTCCCGGCCCTCGCTCCTCCGCCCCGTGTCTGCA
CCCGCCAAGAAAAAAATGAAACTTCGTGGTACCAAAGACCTGTCCATCGCTGCAGTGGGGAAGTACGGGACTCTGCAGGAATTTTCTTTCTTTGACAAGGTCCGC
CGGGTGCTGAAGAGCCAGGAGGTGTATGAAAACTTCCTCCGCTGCATCGCACTCTTCAACCAGGAGCTGGTGTCTGGCTCTGAGCTCCTGCAGCTCGTCAGCCCA
TTTCTGGGGAAATTTCCAGAACTCTTTGCACAGTTCAAGTCCTTCCTGGGGGTAAAAGAGCTGTCCTTCGCGCCACCCATGAGCGACAGATCCGGGGACGGGATA
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>SIN3B|23309|protein
MAHAGGGSGGSGAGGPAGRGLSGARWGRSGSAGHEKLPVHVEDALTYLDQVKIRFGSDPATYNGFLEIMKEFKSQSIDTPGVIRRVSQLFHEHPDLIVGFNAFLP
LGYRIDIPKNGKLNIQSPLTSQENSHNHGDGAEDFKQQVPYKEDKPQVPLESDSVEFNNAISYVNKIKTRFLDHPEIYRSFLEILHTYQKEQLNTRGRPFRGMSE
EEVFTEVANLFRGQEDLLSEFGQFLPEAKRSLFTGNGPCEMHSVQKNEHDKTPEHSRKRSRPSLLRPVSAPAKKKMKLRGTKDLSIAAVGKYGTLQEFSFFDKVR
RVLKSQEVYENFLRCIALFNQELVSGSELLQLVSPFLGKFPELFAQFKSFLGVKELSFAPPMSDRSGDGISREIDYASCKRIGSSYRALPKTYQQPKCSGRTAIC
KELDHWTLLQGSWTDDYCMSKFKNTCWIPGYSAGVLNDTWVSFPSWSEDSTFVSSKKTPYEEQLHRCEDERFELDVVLETNLATIRVLESVQKKLSRMAPEDQEK
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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) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
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