AutismKB 2.0

Evidence Details for C12orf73


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Basic Information Top
Gene Symbol:C12orf73 ( DKFZp547P055,FLJ13975 )
Gene Full Name: chromosome 12 open reading frame 73
Band: 12q23.3
Quick LinksEntrez ID:728568; OMIM: NA; Uniprot ID:CL073_HUMAN; ENSEMBL ID: ENSG00000204954; HGNC ID: 34450
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C12orf73|728568|nucleotide
ATGCCCGCGGGCGTGCCCATGTCCACCTACCTGAAAATGTTCGCAGCCAGTCTCCTGGCCATGTGCGCAGGGGCAGAAGTGGTGCACAGGTACTACCGACCGGAC
CTGACAATACCTGAAATTCCACCAAAGCGTGGAGAACTCAAAACGGAGCTTTTGGGACTGAAAGAAAGAAAACACAAACCTCAAGTTTCTCAACAGGAGGAACTT
AAATAA








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>C12orf73|728568|protein
MPAGVPMSTYLKMFAASLLAMCAGAEVVHRYYRPDLTIPEIPPKRGELKTELLGLKERKHKPQVSQQEELK




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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top