Evidence Details for DNAJC30
Basic Information Top
| Gene Symbol: | DNAJC30 ( MGC12943,WBSCR18 ) |
|---|---|
| Gene Full Name: | DnaJ (Hsp40) homolog, subfamily C, member 30 |
| Band: | 7q11.23 |
| Quick Links | Entrez 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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ATGGCAGCCATGCGCTGGCGATGGTGGCAGCGGCTGTTACCTTGGAGGTTGCTGCAGGCCCGTGGCTTTCCACAAAATTCTGCACCCAGCCTGGGCCTAGGAGCG
AGGACTTATTCCCAGGGCGACTGCTCGTATTCGCGCACGGCGCTGTATGATCTGCTCGGCGTCCCCTCCACAGCCACGCAGGCCCAAATCAAGGCGGCTTACTAC
CGTCAGTGCTTTCTCTACCACCCGGACCGCAACTCCGGGAGCGCGGAGGCCGCCGAGCGCTTCACGCGCATCTCCCAGGCCTACGTGGTGCTGGGCAGTGCCACC
CTCCGTCGCAAGTATGATCGCGGCCTACTCAGCGACGAGGACCTGCGCGGACCTGGCGTCCGGCCCTCCAGGACGCCCGCACCCGACCCCGGCTCGCCGCGTACC
CCGCCGCCCACCTCTCGGACCCACGACGGTTCTCGGGCCTCCCCCGGCGCCAACCGCACGATGTTCAACTTTGACGCCTTCTACCAGGCCCACTACGGGGAACAA
CTGGAGCGGGAACGGCGCCTGAGGGCCCGGCGGGAGGCCCTTCGCAAACGGCAGGAGTATCGGTCCATGAAAGGCCTCCGCTGGGAGGATACCCGAGACACGGCT
GCCATTTTCCTCATCTTTTCAATCTTCATCATCATCGGCTTTTATATTTAA
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>DNAJC30|84277|protein
MAAMRWRWWQRLLPWRLLQARGFPQNSAPSLGLGARTYSQGDCSYSRTALYDLLGVPSTATQAQIKAAYYRQCFLYHPDRNSGSAEAAERFTRISQAYVVLGSAT
LRRKYDRGLLSDEDLRGPGVRPSRTPAPDPGSPRTPPPTSRTHDGSRASPGANRTMFNFDAFYQAHYGEQLERERRLRARREALRKRQEYRSMKGLRWEDTRDTA
AIFLIFSIFIIIGFYI
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MAAMRWRWWQRLLPWRLLQARGFPQNSAPSLGLGARTYSQGDCSYSRTALYDLLGVPSTATQAQIKAAYYRQCFLYHPDRNSGSAEAAERFTRISQAYVVLGSAT
LRRKYDRGLLSDEDLRGPGVRPSRTPAPDPGSPRTPPPTSRTHDGSRASPGANRTMFNFDAFYQAHYGEQLERERRLRARREALRKRQEYRSMKGLRWEDTRDTA
AIFLIFSIFIIIGFYI
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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) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (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 | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 |  | | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.