AutismKB 2.0

Evidence Details for C22orf41


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Basic Information Top
Gene Symbol:C22orf41 ( THEG2 )
Gene Full Name: chromosome 22 open reading frame 41
Band: 22q13.33
Quick LinksEntrez ID:644186; OMIM: NA; Uniprot ID:CV041_HUMAN; ENSEMBL ID: ENSG00000217442; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C22orf41|644186|nucleotide
ATGGATGATGCTGACCCTGAGGAAAGAAACTATGACAACATGCTGAAAATGCTGTCAGATCTGAATAAGGACTTGGAAAAGCTATTAGAAGAGATGGAGAAAATC
TCAGTGCAGGCGACCTGGATGGCCTATGACATGGTGGTGATGCGCACCAACCCTACGCTGGCCGAGTCCATGCGTCGGCTGGAGGATGCCTTCGTCAACTGCAAG
GAGGAGATGGAGAAGAACTGGCAAGAGCTGCTGCATGAGACCAAGCAAAGGCTGTAG








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>C22orf41|644186|protein
MDDADPEERNYDNMLKMLSDLNKDLEKLLEEMEKISVQATWMAYDMVVMRTNPTLAESMRRLEDAFVNCKEEMEKNWQELLHETKQRL




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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 (8) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (8)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top