AutismKB 2.0

Evidence Details for DNAJC5


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Basic Information Top
Gene Symbol:DNAJC5 ( CSP,DKFZp434N1429,DKFZp761N1221,DNAJC5A,FLJ00118,FLJ13070 )
Gene Full Name: DnaJ (Hsp40) homolog, subfamily C, member 5
Band: 20q13.33
Quick LinksEntrez 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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>DNAJC5|80331|protein
MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEINNAHAILTDATKRNIYDKYGSLGLYVAEQFGEENVNTYFVLSSWW
AKALFVFCGLLTCCYCCCCLCCCFNCCCGKCKPKAPEGEETEFYVSPEDLEAQLQSDEREATDTPIVIQPASATETTQLTADSHPSYHTDGFN



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Evidence summary Top

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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 (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 microarrayASD 427 238 189 - 427 500 927
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top