AutismKB 2.0

Evidence Details for C22orf40


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Basic Information Top
Gene Symbol:C22orf40 ( - )
Gene Full Name: chromosome 22 open reading frame 40
Band: 22q13.31
Quick LinksEntrez ID:150383; OMIM: NA; Uniprot ID:CV040_HUMAN; ENSEMBL ID: ENSG00000205643; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C22orf40|150383|nucleotide
ATGGCGTCCCATGTAGAGTGCCGTCCTCTGGGAGTGTTTGAGTGTGAACTCTGTACCTTGACAGCTCCGTACAGCTATGTGGGACAGAAGCCCCCCAACACCCAG
TCGATGGTCCTCCTGGAGGAAAGCTATGTCATGAAGGATCCCTTCACCTCCGACAAGGACAGATTCCTGGTCCTCGGCTCGTGCTGCAGTTTGTGCAGCAGGCTG
GTGTGTGTGGGCCCGGAATGCAGTTTATTCTACTCCAAGAGATTCTGCCTCCCTTGTGTCCGGGAGAACATCAATGCTTTTCCTCAGGAAATTCGGCAAGACTTG
GAGAAAAGGAAAGCTCCATCAAAGAGGACCCCCAGCCAGCCCGGTTCTCGGACGTGA







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>C22orf40|150383|protein
MASHVECRPLGVFECELCTLTAPYSYVGQKPPNTQSMVLLEESYVMKDPFTSDKDRFLVLGSCCSLCSRLVCVGPECSLFYSKRFCLPCVRENINAFPQEIRQDL
EKRKAPSKRTPSQPGSRT



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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) 2 (6) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (6)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top