AutismKB 2.0

Evidence Details for ASXL1


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Basic Information Top
Gene Symbol:ASXL1 ( KIAA0978,MGC117280,MGC71111 )
Gene Full Name: additional sex combs like 1 (Drosophila)
Band: 20q11.21
Quick LinksEntrez ID:171023; OMIM: 612990; Uniprot ID:ASXL1_HUMAN; ENSEMBL ID: ENSG00000171456; HGNC ID: 18318
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ASXL1|171023|nucleotide
ATGAAGGACAAACAGAAGAAGAAGAAGGAGCGCACGTGGGCCGAGGCCGCGCGCCTGGTATTAGAAAACTACTCGGATGCTCCAATGACACCAAAACAGATTCTG
CAGGTCATAGAGGCAGAAGGACTAAAGGAAATGAGAAGTGGGACTTCCCCTCTCGCATGCCTCAATGCTATGCTACATTCCAATTCAAGAGGAGGAGAGGGGTTG
TTTTATAAACTGCCTGGCCGAATCAGCCTTTTCACGCTCAAGGTGTGA








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>ASXL1|171023|protein
MKDKQKKKKERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAMLHSNSRGGEGLFYKLPGRISLFTLKV




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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (0) 0 (1) 0 (0) 2 (5)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top