Evidence Details for DNAJC5
Basic Information Top
Gene Symbol: | DNAJC5 ( CSP,DKFZp434N1429,DKFZp761N1221,DNAJC5A,FLJ00118,FLJ13070 ) |
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Gene Full Name: | DnaJ (Hsp40) homolog, subfamily C, member 5 |
Band: | 20q13.33 |
Quick Links | Entrez ID:80331; OMIM: 611203; Uniprot ID:DNJC5_HUMAN; ENSEMBL ID: ENSG00000101152; HGNC ID: 16235 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DNAJC5|80331|nucleotide
ATGGCAGACCAGAGACAGCGCTCACTGTCTACCTCTGGGGAGTCATTGTACCACGTCCTTGGGTTGGACAAGAACGCAACCTCAGATGACATTAAAAAGTCCTAT
CGGAAGCTTGCCTTGAAATATCACCCCGACAAGAACCCCGACAACCCGGAGGCCGCGGACAAGTTTAAGGAGATCAACAACGCGCACGCCATCCTCACGGACGCC
ACAAAAAGGAACATCTACGACAAGTACGGCTCGCTGGGTCTCTACGTGGCCGAGCAGTTTGGGGAAGAGAACGTGAACACCTACTTCGTGCTGTCCAGCTGGTGG
GCCAAGGCCCTGTTTGTCTTCTGCGGCCTCCTCACGTGCTGCTACTGCTGCTGCTGTCTGTGCTGCTGCTTCAACTGCTGCTGCGGGAAGTGTAAGCCCAAGGCG
CCTGAAGGCGAGGAGACGGAGTTCTACGTGTCCCCCGAGGATCTGGAGGCACAGCTGCAGTCTGACGAGAGGGAGGCCACAGACACGCCGATCGTCATACAGCCG
GCATCCGCCACCGAGACCACCCAGCTCACAGCCGACTCCCACCCCAGCTACCACACTGACGGGTTCAACTAA
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ATGGCAGACCAGAGACAGCGCTCACTGTCTACCTCTGGGGAGTCATTGTACCACGTCCTTGGGTTGGACAAGAACGCAACCTCAGATGACATTAAAAAGTCCTAT
CGGAAGCTTGCCTTGAAATATCACCCCGACAAGAACCCCGACAACCCGGAGGCCGCGGACAAGTTTAAGGAGATCAACAACGCGCACGCCATCCTCACGGACGCC
ACAAAAAGGAACATCTACGACAAGTACGGCTCGCTGGGTCTCTACGTGGCCGAGCAGTTTGGGGAAGAGAACGTGAACACCTACTTCGTGCTGTCCAGCTGGTGG
GCCAAGGCCCTGTTTGTCTTCTGCGGCCTCCTCACGTGCTGCTACTGCTGCTGCTGTCTGTGCTGCTGCTTCAACTGCTGCTGCGGGAAGTGTAAGCCCAAGGCG
CCTGAAGGCGAGGAGACGGAGTTCTACGTGTCCCCCGAGGATCTGGAGGCACAGCTGCAGTCTGACGAGAGGGAGGCCACAGACACGCCGATCGTCATACAGCCG
GCATCCGCCACCGAGACCACCCAGCTCACAGCCGACTCCCACCCCAGCTACCACACTGACGGGTTCAACTAA
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>DNAJC5|80331|protein
MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEINNAHAILTDATKRNIYDKYGSLGLYVAEQFGEENVNTYFVLSSWW
AKALFVFCGLLTCCYCCCCLCCCFNCCCGKCKPKAPEGEETEFYVSPEDLEAQLQSDEREATDTPIVIQPASATETTQLTADSHPSYHTDGFN
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MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEINNAHAILTDATKRNIYDKYGSLGLYVAEQFGEENVNTYFVLSSWW
AKALFVFCGLLTCCYCCCCLCCCFNCCCGKCKPKAPEGEETEFYVSPEDLEAQLQSDEREATDTPIVIQPASATETTQLTADSHPSYHTDGFN
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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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV 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 | ||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
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 |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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