Evidence Details for SIN3A
Basic Information Top
Gene Symbol: | SIN3A ( DKFZp434K2235,FLJ90319,KIAA0700 ) |
---|---|
Gene Full Name: | SIN3 homolog A, transcription regulator (yeast) |
Band: | 15q24.2 |
Quick Links | Entrez 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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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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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 microarray | ASD | 1491 | - | - | - | - | - | 0 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 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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