AutismKB 2.0

Evidence Details for C12orf65


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Basic Information Top
Gene Symbol:C12orf65 ( FLJ38663 )
Gene Full Name: chromosome 12 open reading frame 65
Band: 12q24.31
Quick LinksEntrez ID:91574; OMIM: 613541; Uniprot ID:CL065_HUMAN; ENSEMBL ID: ENSG00000130921; HGNC ID: 26784
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C12orf65|91574|nucleotide
ATGAGCACCGTGGGTTTATTTCATTTTCCTACACCACTGACCCGAATATGCCCGGCGCCATGGGGACTCCGGCTTTGGGAGAAGCTGACGTTGTTATCCCCAGGA
ATAGCTGTCACTCCGGTCCAGATGGCAGGCAAGAAGGACTACCCTGCACTGCTTTCCTTGGATGAGAATGAACTCGAAGAGCAGTTTGTGAAAGGACACGGTCCA
GGGGGCCAGGCAACCAACAAAACCAGCAACTGCGTGGTGCTGAAGCACATCCCCTCAGGCATCGTTGTAAAGTGCCATCAGACAAGATCAGTTGATCAGAACAGA
AAGCTAGCTCGGAAAATCCTACAAGAGAAAGTAGATGTTTTCTACAATGGTGAAAACAGTCCTGTTCACAAAGAAAAACGAGAAGCGGCGAAGAAAAAACAAGAA
AGGAAAAAAAGAGCAAAGGAAACCCTGGAAAAAAAGAAGCTACTTAAAGAACTGTGGGAGTCAAGTAAAAAGGTCCACTGA






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>C12orf65|91574|protein
MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTPVQMAGKKDYPALLSLDENELEEQFVKGHGPGGQATNKTSNCVVLKHIPSGIVVKCHQTRSVDQNR
KLARKILQEKVDVFYNGENSPVHKEKREAAKKKQERKKRAKETLEKKKLLKELWESSKKVH



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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (4)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top