AutismKB 2.0

Evidence Details for C7orf68


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Basic Information Top
Gene Symbol:C7orf68 ( FLJ21076,HIG-2,HIG2,MGC138388 )
Gene Full Name: chromosome 7 open reading frame 68
Band: 7q32.1
Quick LinksEntrez ID:29923; OMIM: NA; Uniprot ID:HIG2_HUMAN; ENSEMBL ID: ENSG00000135245; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C7orf68|29923|nucleotide
ATGAAGCATGTGTTGAACCTCTACCTGTTAGGTGTGGTACTGACCCTACTCTCCATCTTCGTTAGAGTGATGGAGTCCCTAGAGGGCTTACTAGAGAGCCCATCG
CCTGGGACCTCCTGGACCACCAGAAGCCAACTAGCCAACACAGAGCCCACCAAGGGCCTTCCAGACCATCCATCCAGAAGCATGTGA









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>C7orf68|29923|protein
MKHVLNLYLLGVVLTLLSIFVRVMESLEGLLESPSPGTSWTTRSQLANTEPTKGLPDHPSRSM




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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 (2) 1 (3) 0 (0) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 5 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top