Evidence Details for SH2D1B
Basic Information Top
| Gene Symbol: | SH2D1B ( EAT2 ) |
|---|---|
| Gene Full Name: | SH2 domain containing 1B |
| Band: | 1q23.3 |
| Quick Links | Entrez ID:117157; OMIM: 608510; Uniprot ID:SH21B_HUMAN; ENSEMBL ID: ENSG00000198574; HGNC ID: 30416 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SH2D1B|117157|nucleotide
ATGGATCTGCCTTACTACCATGGACGTCTGACCAAGCAAGACTGTGAGACCTTGCTGCTCAAGGAAGGGGTGGATGGCAACTTTCTTTTAAGAGACAGCGAGTCG
ATACCAGGAGTCCTGTGCCTCTGTGTCTCGTTTAAAAATATTGTCTACACATACCGAATCTTCAGAGAGAAACACGGGTATTACAGGATACAGACTGCAGAAGGT
TCTCCAAAACAGGTCTTTCCAAGCCTAAAGGAACTGATCTCCAAATTTGAAAAACCAAATCAGGGGATGGTGGTTCACCTTTTAAAGCCAATAAAGAGAACCAGC
CCCAGCTTGAGATGGAGAGGATTGAAATTAGAGTTGGAAACATTTGTGAACAGTAACAGCGATTATGTGGATGTCTTGCCTTGA
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ATGGATCTGCCTTACTACCATGGACGTCTGACCAAGCAAGACTGTGAGACCTTGCTGCTCAAGGAAGGGGTGGATGGCAACTTTCTTTTAAGAGACAGCGAGTCG
ATACCAGGAGTCCTGTGCCTCTGTGTCTCGTTTAAAAATATTGTCTACACATACCGAATCTTCAGAGAGAAACACGGGTATTACAGGATACAGACTGCAGAAGGT
TCTCCAAAACAGGTCTTTCCAAGCCTAAAGGAACTGATCTCCAAATTTGAAAAACCAAATCAGGGGATGGTGGTTCACCTTTTAAAGCCAATAAAGAGAACCAGC
CCCAGCTTGAGATGGAGAGGATTGAAATTAGAGTTGGAAACATTTGTGAACAGTAACAGCGATTATGTGGATGTCTTGCCTTGA
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>SH2D1B|117157|protein
MDLPYYHGRLTKQDCETLLLKEGVDGNFLLRDSESIPGVLCLCVSFKNIVYTYRIFREKHGYYRIQTAEGSPKQVFPSLKELISKFEKPNQGMVVHLLKPIKRTS
PSLRWRGLKLELETFVNSNSDYVDVLP
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MDLPYYHGRLTKQDCETLLLKEGVDGNFLLRDSESIPGVLCLCVSFKNIVYTYRIFREKHGYYRIQTAEGSPKQVFPSLKELISKFEKPNQGMVVHLLKPIKRTS
PSLRWRGLKLELETFVNSNSDYVDVLP
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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) | 0 (1) | 1 (1) | 0 (0) | 3 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 5 (5) |
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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Ylisaukko-oja, 2006 | USA, Finland | microsatellite-based genomic screen | |  | ASD | 314 | - | 314 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 3
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_1 | mixed | lymphoblastoid cell lines | 35 (14.29%) | | | autism | autism | 12 (25.00%) |
2.389 | Up | 0.00605 | |
| ||||||||||||
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
2.381 | Up | 0.0222 | |
| ||||||||||||
| Gregg, 2008_3 | mixed | lymphoblastoid cell lines | 18 (16.67%) | | | autism with regression | autism | 12 (25.00%) |
2.224 | Up | 0.0209 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS 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.