Evidence Details for SH3BP5
Basic Information Top
| Gene Symbol: | SH3BP5 ( SAB ) |
|---|---|
| Gene Full Name: | SH3-domain binding protein 5 (BTK-associated) |
| Band: | 3p25.1 |
| Quick Links | Entrez ID:9467; OMIM: 605612; Uniprot ID:3BP5_HUMAN; ENSEMBL ID: ENSG00000131370; HGNC ID: 10827 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SH3BP5|9467|nucleotide
ATGCTGAATCACGCCACTCAGAGGGTCATGGAGGCGGAGCAGACCAAGACCAGGAGCGAGCTGGTGCATAAGGAGACGGCAGCCAGGTACAATGCCGCCATGGGC
CGCATGCGACAGCTGGAGAAGAAACTCAAGAGAGCCATCAACAAGTCCAAGCCTTATTTTGAACTCAAGGCAAAGTACTATGTGCAGCTCGAGCAACTGAAAAAG
ACTGTGGATGACCTGCAGGCCAAACTGACCCTGGCAAAAGGCGAGTACAAGATGGCCCTGAAGAACCTGGAGATGATCTCAGATGAGATCCACGAGCGGCGGCGC
TCCAGTGCCATGGGGCCTCGGGGATGCGGTGTTGGTGCTGAGGGCAGCAGCACATCTGTGGAGGATCTGCCAGGGAGCAAACCTGAGCCTGATGCCATTTCTGTG
GCCTCGGAGGCCTTTGAAGATGACAGCTGTAGCAACTTTGTGTCTGAAGATGACTCGGAAACCCAGTCCGTGTCCAGCTTTAGTTCAGGACCAACAAGCCCGTCT
GAGATGCCTGACCAGTTCCCTGCGGTTGTGAGGCCTGGCAGCCTGGATCTGCCCAGCCCTGTGTCCCTGTCAGAGTTTGGGATGATGTTCCCAGTGTTGGGCCCT
CGAAGTGAATGCAGCGGGGCCTCCTCCCCTGAATGTGAAGTAGAACGAGGAGACAGGGCAGAAGGGGCAGAGAATAAAACAAGTGACAAAGCCAACAACAACCGG
GGCCTCAGCAGTAGCAGTGGCAGTGGTGGCAGCAGTAAGAGCCAAAGCAGCACCTCCCCTGAGGGCCAGGCCTTGGAGAACCGGATGAAGCAGCTCTCCCTACAG
TGCTCAAAGGGAAGAGATGGAATTATTGCTGACATAAAAATGGTGCAGATTGGCTGA
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ATGCTGAATCACGCCACTCAGAGGGTCATGGAGGCGGAGCAGACCAAGACCAGGAGCGAGCTGGTGCATAAGGAGACGGCAGCCAGGTACAATGCCGCCATGGGC
CGCATGCGACAGCTGGAGAAGAAACTCAAGAGAGCCATCAACAAGTCCAAGCCTTATTTTGAACTCAAGGCAAAGTACTATGTGCAGCTCGAGCAACTGAAAAAG
ACTGTGGATGACCTGCAGGCCAAACTGACCCTGGCAAAAGGCGAGTACAAGATGGCCCTGAAGAACCTGGAGATGATCTCAGATGAGATCCACGAGCGGCGGCGC
TCCAGTGCCATGGGGCCTCGGGGATGCGGTGTTGGTGCTGAGGGCAGCAGCACATCTGTGGAGGATCTGCCAGGGAGCAAACCTGAGCCTGATGCCATTTCTGTG
GCCTCGGAGGCCTTTGAAGATGACAGCTGTAGCAACTTTGTGTCTGAAGATGACTCGGAAACCCAGTCCGTGTCCAGCTTTAGTTCAGGACCAACAAGCCCGTCT
GAGATGCCTGACCAGTTCCCTGCGGTTGTGAGGCCTGGCAGCCTGGATCTGCCCAGCCCTGTGTCCCTGTCAGAGTTTGGGATGATGTTCCCAGTGTTGGGCCCT
CGAAGTGAATGCAGCGGGGCCTCCTCCCCTGAATGTGAAGTAGAACGAGGAGACAGGGCAGAAGGGGCAGAGAATAAAACAAGTGACAAAGCCAACAACAACCGG
GGCCTCAGCAGTAGCAGTGGCAGTGGTGGCAGCAGTAAGAGCCAAAGCAGCACCTCCCCTGAGGGCCAGGCCTTGGAGAACCGGATGAAGCAGCTCTCCCTACAG
TGCTCAAAGGGAAGAGATGGAATTATTGCTGACATAAAAATGGTGCAGATTGGCTGA
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>SH3BP5|9467|protein
MLNHATQRVMEAEQTKTRSELVHKETAARYNAAMGRMRQLEKKLKRAINKSKPYFELKAKYYVQLEQLKKTVDDLQAKLTLAKGEYKMALKNLEMISDEIHERRR
SSAMGPRGCGVGAEGSSTSVEDLPGSKPEPDAISVASEAFEDDSCSNFVSEDDSETQSVSSFSSGPTSPSEMPDQFPAVVRPGSLDLPSPVSLSEFGMMFPVLGP
RSECSGASSPECEVERGDRAEGAENKTSDKANNNRGLSSSSGSGGSSKSQSSTSPEGQALENRMKQLSLQCSKGRDGIIADIKMVQIG
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MLNHATQRVMEAEQTKTRSELVHKETAARYNAAMGRMRQLEKKLKRAINKSKPYFELKAKYYVQLEQLKKTVDDLQAKLTLAKGEYKMALKNLEMISDEIHERRR
SSAMGPRGCGVGAEGSSTSVEDLPGSKPEPDAISVASEAFEDDSCSNFVSEDDSETQSVSSFSSGPTSPSEMPDQFPAVVRPGSLDLPSPVSLSEFGMMFPVLGP
RSECSGASSPECEVERGDRAEGAENKTSDKANNNRGLSSSSGSGGSSKSQSSTSPEGQALENRMKQLSLQCSKGRDGIIADIKMVQIG
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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) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top