AutismKB 2.0

Evidence Details for C1orf21


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Basic Information Top
Gene Symbol:C1orf21 ( PIG13 )
Gene Full Name: chromosome 1 open reading frame 21
Band: 1q25.3
Quick LinksEntrez ID:81563; OMIM: NA; Uniprot ID:CA021_HUMAN; ENSEMBL ID: ENSG00000116667; HGNC ID: 15494
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C1orf21|81563|nucleotide
ATGGGCTGTGCCTCCGCCAAGCATGTTGCCACTGTTCAAAATGAAGAGGAAGCCCAGAAAGGGAAAAACTACCAGAACGGAGATGTGTTTGGCGATGAGTATAGG
ATCAAACCAGTGGAAGAGGTCAAATACATGAAAAATGGGGCAGAAGAAGAGCAGAAAATAGCAGCCAGGAACCAAGAAAACTTGGAAAAAAGTGCCAGCTCAAAT
GTAAGACTTAAAACTAATAAAGAGGTTCCGGGATTAGTTCATCAACCCAGAGCAAACATGCACATCTCTGAAAGCCAACAAGAATTCTTCAGAATGCTGGATGAA
AAAATTGAAAAGGGTCGGGATTACTGTTCGGAAGAAGAGGATATCACATAG







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>C1orf21|81563|protein
MGCASAKHVATVQNEEEAQKGKNYQNGDVFGDEYRIKPVEEVKYMKNGAEEEQKIAARNQENLEKSASSNVRLKTNKEVPGLVHQPRANMHISESQQEFFRMLDE
KIEKGRDYCSEEEDIT



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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top