Evidence Details for SH2B1
Basic Information Top
| Gene Symbol: | SH2B1 ( DKFZp547G1110,FLJ30542,KIAA1299,PSM,SH2B ) |
|---|---|
| Gene Full Name: | SH2B adaptor protein 1 |
| Band: | 16p11.2 |
| Quick Links | Entrez ID:25970; OMIM: 608937; Uniprot ID:SH2B1_HUMAN; ENSEMBL ID: ENSG00000178188; HGNC ID: 30417 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SH2B1|25970|nucleotide
ATGAATGGTGCCCCTTCCCCAGAGGACGGGGCCTCCCCCTCGTCTCCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTTCTGTGAGTCCCACGCCCGG
GCTGCGGCTCTGGACTTTGCCCGCCGTTTTCGCCTCTACCTGGCCTCCCACCCCCAATATGCGGGGCCCGGGGCCGAGGCTGCCTTCTCCCGCCGTTTTGCTGAG
CTCTTCCTGCAGCACTTTGAAGCCGAGGTGGCCCGGGCCTCTGGCTCCCTGTCGCCACCCATCCTGGCTCCCCTGAGCCCTGGTGCGGAGATTTCGCCACATGAC
CTGTCCCTTGAGAGCTGCAGGGTGGGTGGGCCCCTGGCTGTGCTGGGCCCTTCTCGATCATCTGAGGACCTGGCCGGCCCCCTCCCTTCCTCAGTCTCTTCCTCC
TCTACAACCTCCTCCAAGCCGAAGCTCAAGAAGCGCTTTTCCCTGCGTTCAGTGGGTCGCTCTGTCCGAGGCTCAGTCCGTGGCATCCTGCAGTGGCGGGGGACC
GTTGACCCTCCCTCCTCCGCTGGGCCCCTGGAGACCTCGTCAGGCCCCCCAGTCTTAGGTGGAAACAGCAACTCCAACTCCTCTGGCGGGGCTGGGACCGTTGGT
AGGGGACTGGTCAGTGATGGAACGTCCCCTGGGGAAAGATGGACTCACCGTTTTGAGAGGCTGAGACTCAGTCGGGGAGGGGGCGCCTTGAAGGATGGAGCAGGG
ATGGTGCAGAGGGAAGAGCTGCTGAGTTTCATGGGGGCTGAGGAGGCAGCCCCTGACCCAGCCGGAGTGGGCCGGGGAGGAGGGGTGGCTGGGCCTCCTTCAGGG
GGAGGAGGGCAGCCTCAGTGGCAGAAGTGTCGCCTGCTGCTTCGAAGTGAAGGAGAAGGAGGAGGAGGAAGTCGCCTGGAGTTCTTTGTACCACCCAAGGCCTCT
CGGCCCCGACTCAGCATCCCCTGCTCTTCTATCACAGACGTCCGGACAACCACAGCCCTGGAGATGCCTGACCGGGAGAACACGTTTGTGGTTAAGGTGGAAGGT
CCATCCGAGTATATCATGGAGACAGTGGATGCCCAGCATGTGAAGGCCTGGGTGTCTGACATCCAAGAATGCCTGAGCCCAGGACCCTGCCCTGCTACCAGTCCC
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ATGAATGGTGCCCCTTCCCCAGAGGACGGGGCCTCCCCCTCGTCTCCCCCGCTGCCCCCACCCCCGCCCCCTAGTTGGCGGGAGTTCTGTGAGTCCCACGCCCGG
GCTGCGGCTCTGGACTTTGCCCGCCGTTTTCGCCTCTACCTGGCCTCCCACCCCCAATATGCGGGGCCCGGGGCCGAGGCTGCCTTCTCCCGCCGTTTTGCTGAG
CTCTTCCTGCAGCACTTTGAAGCCGAGGTGGCCCGGGCCTCTGGCTCCCTGTCGCCACCCATCCTGGCTCCCCTGAGCCCTGGTGCGGAGATTTCGCCACATGAC
CTGTCCCTTGAGAGCTGCAGGGTGGGTGGGCCCCTGGCTGTGCTGGGCCCTTCTCGATCATCTGAGGACCTGGCCGGCCCCCTCCCTTCCTCAGTCTCTTCCTCC
TCTACAACCTCCTCCAAGCCGAAGCTCAAGAAGCGCTTTTCCCTGCGTTCAGTGGGTCGCTCTGTCCGAGGCTCAGTCCGTGGCATCCTGCAGTGGCGGGGGACC
GTTGACCCTCCCTCCTCCGCTGGGCCCCTGGAGACCTCGTCAGGCCCCCCAGTCTTAGGTGGAAACAGCAACTCCAACTCCTCTGGCGGGGCTGGGACCGTTGGT
AGGGGACTGGTCAGTGATGGAACGTCCCCTGGGGAAAGATGGACTCACCGTTTTGAGAGGCTGAGACTCAGTCGGGGAGGGGGCGCCTTGAAGGATGGAGCAGGG
ATGGTGCAGAGGGAAGAGCTGCTGAGTTTCATGGGGGCTGAGGAGGCAGCCCCTGACCCAGCCGGAGTGGGCCGGGGAGGAGGGGTGGCTGGGCCTCCTTCAGGG
GGAGGAGGGCAGCCTCAGTGGCAGAAGTGTCGCCTGCTGCTTCGAAGTGAAGGAGAAGGAGGAGGAGGAAGTCGCCTGGAGTTCTTTGTACCACCCAAGGCCTCT
CGGCCCCGACTCAGCATCCCCTGCTCTTCTATCACAGACGTCCGGACAACCACAGCCCTGGAGATGCCTGACCGGGAGAACACGTTTGTGGTTAAGGTGGAAGGT
CCATCCGAGTATATCATGGAGACAGTGGATGCCCAGCATGTGAAGGCCTGGGTGTCTGACATCCAAGAATGCCTGAGCCCAGGACCCTGCCCTGCTACCAGTCCC
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>SH2B1|25970|protein
MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGAEAAFSRRFAELFLQHFEAEVARASGSLSPPILAPLSPGAEISPHD
LSLESCRVGGPLAVLGPSRSSEDLAGPLPSSVSSSSTTSSKPKLKKRFSLRSVGRSVRGSVRGILQWRGTVDPPSSAGPLETSSGPPVLGGNSNSNSSGGAGTVG
RGLVSDGTSPGERWTHRFERLRLSRGGGALKDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAGPPSGGGGQPQWQKCRLLLRSEGEGGGGSRLEFFVPPKAS
RPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPS
QDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGY
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MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGAEAAFSRRFAELFLQHFEAEVARASGSLSPPILAPLSPGAEISPHD
LSLESCRVGGPLAVLGPSRSSEDLAGPLPSSVSSSSTTSSKPKLKKRFSLRSVGRSVRGSVRGILQWRGTVDPPSSAGPLETSSGPPVLGGNSNSNSSGGAGTVG
RGLVSDGTSPGERWTHRFERLRLSRGGGALKDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAGPPSGGGGQPQWQKCRLLLRSEGEGGGGSRLEFFVPPKAS
RPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEGPSEYIMETVDAQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPS
QDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEEGPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGY
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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) | 2 (10) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (11) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Finelli, 2004 | - | FISH |  | | autistic feature | - | - | - | - | 2 | - | 2 |
| Weiss, 2008 | USA, Ireland | aCGH, SNP microarray |  | | ASD | 751 | - | - | - | 2252 | 23502 | 25754 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Gazzellone MJ, 2014 | China | - | | | - | - | - | - | - | 104 | 2108 | 2212 |
| Okamoto N, 2014 | Japanese | - | - | - | autism | - | - | - | - | 2 | - | 2 |
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
| Eriksson MA, 2015 | Sweden | FISH? | - | - | autism | - | - | - | - | 162 | - | 162 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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 TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.