AutismKB 2.0

Evidence Details for DNAJC30


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Basic Information Top
Gene Symbol:DNAJC30 ( MGC12943,WBSCR18 )
Gene Full Name: DnaJ (Hsp40) homolog, subfamily C, member 30
Band: 7q11.23
Quick LinksEntrez ID:84277; OMIM: NA; Uniprot ID:DJC30_HUMAN; ENSEMBL ID: ENSG00000176410; HGNC ID: 16410
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DNAJC30|84277|nucleotide
ATGGCAGCCATGCGCTGGCGATGGTGGCAGCGGCTGTTACCTTGGAGGTTGCTGCAGGCCCGTGGCTTTCCACAAAATTCTGCACCCAGCCTGGGCCTAGGAGCG
AGGACTTATTCCCAGGGCGACTGCTCGTATTCGCGCACGGCGCTGTATGATCTGCTCGGCGTCCCCTCCACAGCCACGCAGGCCCAAATCAAGGCGGCTTACTAC
CGTCAGTGCTTTCTCTACCACCCGGACCGCAACTCCGGGAGCGCGGAGGCCGCCGAGCGCTTCACGCGCATCTCCCAGGCCTACGTGGTGCTGGGCAGTGCCACC
CTCCGTCGCAAGTATGATCGCGGCCTACTCAGCGACGAGGACCTGCGCGGACCTGGCGTCCGGCCCTCCAGGACGCCCGCACCCGACCCCGGCTCGCCGCGTACC
CCGCCGCCCACCTCTCGGACCCACGACGGTTCTCGGGCCTCCCCCGGCGCCAACCGCACGATGTTCAACTTTGACGCCTTCTACCAGGCCCACTACGGGGAACAA
CTGGAGCGGGAACGGCGCCTGAGGGCCCGGCGGGAGGCCCTTCGCAAACGGCAGGAGTATCGGTCCATGAAAGGCCTCCGCTGGGAGGATACCCGAGACACGGCT
GCCATTTTCCTCATCTTTTCAATCTTCATCATCATCGGCTTTTATATTTAA




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>DNAJC30|84277|protein
MAAMRWRWWQRLLPWRLLQARGFPQNSAPSLGLGARTYSQGDCSYSRTALYDLLGVPSTATQAQIKAAYYRQCFLYHPDRNSGSAEAAERFTRISQAYVVLGSAT
LRRKYDRGLLSDEDLRGPGVRPSRTPAPDPGSPRTPPPTSRTHDGSRASPGANRTMFNFDAFYQAHYGEQLERERRLRARREALRKRQEYRSMKGLRWEDTRDTA
AIFLIFSIFIIIGFYI


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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) 0 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top