Evidence Details for ITGB1BP3
Basic Information Top
| Gene Symbol: | ITGB1BP3 ( MGC126624,MIBP,NRK2 ) |
|---|---|
| Gene Full Name: | integrin beta 1 binding protein 3 |
| Band: | 19p13.3 |
| Quick Links | Entrez ID:27231; OMIM: 608705; Uniprot ID:NRK2_HUMAN; ENSEMBL ID: ENSG00000077009; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ITGB1BP3|27231|nucleotide
ATGAAGCTCATCGTGGGCATCGGAGGCATGACCAACGGCGGCAAGACCACGCTGACCAACAGCCTGCTCAGAGCCCTGCCCAACTGCTGCGTGATCCATCAGGAT
GACTTCTTCAAGCCCCAAGACCAAATAGCAGTTGGGGAAGACGGCTTCAAACAGTGGGACGTGCTGGAGTCTCTGGACATGGAGGCCATGCTGGACACCGTGCAG
GCCTGGCTGAGCAGCCCGCAGAAGTTTGCCCGTGCCCACGGGGTCAGCGTCCAGCCAGAGGCCTCGGACACCCACATCCTCCTCCTGGAAGGCTTCCTGCTCTAC
AGCTACAAGCCCCTGGTGGACTTGTACAGCCGCCGGTACTTCCTGACCGTCCCGTATGAAGAGTGCAAGTGGAGGAGAAGTACCCGCAACTACACAGTCCCTGAT
CCCCCCGGCCTCTTCGATGGCCACGTGTGGCCCATGTACCAGAAGTATAGGCAGGAGATGGAGGCCAACGGTGTGGAAGTGGTCTACCTGGACGGCATGAAGTCC
CGAGAGGAGCTCTTCCGTGAAGTCCTGGAAGACATTCAGAACTCGCTGCTGAACCGCTCCCAGGAATCAGCCCCCTCCCCGGCTCGCCCAGCCAGGACACAGGGA
CCCGGACGCGGATGCGGCCACAGAACGGCCAGGCCTGCAGCGTCCCAGCAGGACAGCATGTGA
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ATGAAGCTCATCGTGGGCATCGGAGGCATGACCAACGGCGGCAAGACCACGCTGACCAACAGCCTGCTCAGAGCCCTGCCCAACTGCTGCGTGATCCATCAGGAT
GACTTCTTCAAGCCCCAAGACCAAATAGCAGTTGGGGAAGACGGCTTCAAACAGTGGGACGTGCTGGAGTCTCTGGACATGGAGGCCATGCTGGACACCGTGCAG
GCCTGGCTGAGCAGCCCGCAGAAGTTTGCCCGTGCCCACGGGGTCAGCGTCCAGCCAGAGGCCTCGGACACCCACATCCTCCTCCTGGAAGGCTTCCTGCTCTAC
AGCTACAAGCCCCTGGTGGACTTGTACAGCCGCCGGTACTTCCTGACCGTCCCGTATGAAGAGTGCAAGTGGAGGAGAAGTACCCGCAACTACACAGTCCCTGAT
CCCCCCGGCCTCTTCGATGGCCACGTGTGGCCCATGTACCAGAAGTATAGGCAGGAGATGGAGGCCAACGGTGTGGAAGTGGTCTACCTGGACGGCATGAAGTCC
CGAGAGGAGCTCTTCCGTGAAGTCCTGGAAGACATTCAGAACTCGCTGCTGAACCGCTCCCAGGAATCAGCCCCCTCCCCGGCTCGCCCAGCCAGGACACAGGGA
CCCGGACGCGGATGCGGCCACAGAACGGCCAGGCCTGCAGCGTCCCAGCAGGACAGCATGTGA
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>ITGB1BP3|27231|protein
MKLIVGIGGMTNGGKTTLTNSLLRALPNCCVIHQDDFFKPQDQIAVGEDGFKQWDVLESLDMEAMLDTVQAWLSSPQKFARAHGVSVQPEASDTHILLLEGFLLY
SYKPLVDLYSRRYFLTVPYEECKWRRSTRNYTVPDPPGLFDGHVWPMYQKYRQEMEANGVEVVYLDGMKSREELFREVLEDIQNSLLNRSQESAPSPARPARTQG
PGRGCGHRTARPAASQQDSM
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MKLIVGIGGMTNGGKTTLTNSLLRALPNCCVIHQDDFFKPQDQIAVGEDGFKQWDVLESLDMEAMLDTVQAWLSSPQKFARAHGVSVQPEASDTHILLLEGFLLY
SYKPLVDLYSRRYFLTVPYEECKWRRSTRNYTVPDPPGLFDGHVWPMYQKYRQEMEANGVEVVYLDGMKSREELFREVLEDIQNSLLNRSQESAPSPARPARTQG
PGRGCGHRTARPAASQQDSM
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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 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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 | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
Linkage Studies Top