Evidence Details for DNAJB9
Basic Information Top
Gene Symbol: | DNAJB9 ( DKFZp564F1862,ERdj4,MDG1,MST049,MSTP049 ) |
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Gene Full Name: | DnaJ (Hsp40) homolog, subfamily B, member 9 |
Band: | 7q31.1 |
Quick Links | Entrez ID:4189; OMIM: 602634; Uniprot ID:DNJB9_HUMAN; ENSEMBL ID: ENSG00000128590; HGNC ID: 6968 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DNAJB9|4189|nucleotide
ATGGCTACTCCCCAGTCAATTTTCATCTTTGCAATCTGCATTTTAATGATAACAGAATTAATTCTGGCCTCAAAAAGCTACTATGATATCTTAGGTGTGCCAAAA
TCGGCATCAGAGCGCCAAATCAAGAAGGCCTTTCACAAGTTGGCCATGAAGTACCACCCTGACAAAAATAAGAGCCCGGATGCTGAAGCAAAATTCAGAGAGATT
GCAGAAGCATATGAAACACTCTCAGATGCTAATAGACGAAAAGAGTATGATACACTTGGACACAGTGCTTTTACTAGTGGTAAAGGACAAAGAGGTAGTGGAAGT
TCTTTTGAGCAGTCATTTAACTTCAATTTTGATGACTTATTTAAAGACTTTGGCTTTTTTGGTCAAAACCAAAACACTGGATCCAAGAAGCGTTTTGAAAATCAT
TTCCAGACACGCCAGGATGGTGGTTCCAGTAGACAAAGGCATCATTTCCAAGAATTTTCTTTTGGAGGTGGATTATTTGATGACATGTTTGAAGATATGGAGAAA
ATGTTTTCTTTTAGTGGTTTTGACTCTACCAATCAGCATACAGTACAGACTGAAAATAGATTTCATGGATCTAGCAAGCACTGCAGGACTGTCACTCAACGAAGA
GGAAATATGGTTACTACATACACTGACTGTTCAGGACAGTAG
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ATGGCTACTCCCCAGTCAATTTTCATCTTTGCAATCTGCATTTTAATGATAACAGAATTAATTCTGGCCTCAAAAAGCTACTATGATATCTTAGGTGTGCCAAAA
TCGGCATCAGAGCGCCAAATCAAGAAGGCCTTTCACAAGTTGGCCATGAAGTACCACCCTGACAAAAATAAGAGCCCGGATGCTGAAGCAAAATTCAGAGAGATT
GCAGAAGCATATGAAACACTCTCAGATGCTAATAGACGAAAAGAGTATGATACACTTGGACACAGTGCTTTTACTAGTGGTAAAGGACAAAGAGGTAGTGGAAGT
TCTTTTGAGCAGTCATTTAACTTCAATTTTGATGACTTATTTAAAGACTTTGGCTTTTTTGGTCAAAACCAAAACACTGGATCCAAGAAGCGTTTTGAAAATCAT
TTCCAGACACGCCAGGATGGTGGTTCCAGTAGACAAAGGCATCATTTCCAAGAATTTTCTTTTGGAGGTGGATTATTTGATGACATGTTTGAAGATATGGAGAAA
ATGTTTTCTTTTAGTGGTTTTGACTCTACCAATCAGCATACAGTACAGACTGAAAATAGATTTCATGGATCTAGCAAGCACTGCAGGACTGTCACTCAACGAAGA
GGAAATATGGTTACTACATACACTGACTGTTCAGGACAGTAG
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>DNAJB9|4189|protein
MATPQSIFIFAICILMITELILASKSYYDILGVPKSASERQIKKAFHKLAMKYHPDKNKSPDAEAKFREIAEAYETLSDANRRKEYDTLGHSAFTSGKGQRGSGS
SFEQSFNFNFDDLFKDFGFFGQNQNTGSKKRFENHFQTRQDGGSSRQRHHFQEFSFGGGLFDDMFEDMEKMFSFSGFDSTNQHTVQTENRFHGSSKHCRTVTQRR
GNMVTTYTDCSGQ
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MATPQSIFIFAICILMITELILASKSYYDILGVPKSASERQIKKAFHKLAMKYHPDKNKSPDAEAKFREIAEAYETLSDANRRKEYDTLGHSAFTSGKGQRGSGS
SFEQSFNFNFDDLFKDFGFFGQNQNTGSKKRFENHFQTRQDGGSSRQRHHFQEFSFGGGLFDDMFEDMEKMFSFSGFDSTNQHTVQTENRFHGSSKHCRTVTQRR
GNMVTTYTDCSGQ
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Evidence summary Top
Click 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 |
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Score (No. of Studies) | No | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Liu, 2001 | USA | microsatellite-based genomic screen | autism, ASD | 110 | - | 110 | - | - | - | - |
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 |
---|---|---|---|---|
O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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