AutismKB 2.0

Evidence Details for ASXL3


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Basic Information Top
Gene Symbol:ASXL3 ( KIAA1713 )
Gene Full Name: additional sex combs like 3 (Drosophila)
Band: 18q12.1
Quick LinksEntrez ID:80816; OMIM: NA; Uniprot ID:ASXL3_HUMAN; ENSEMBL ID: ENSG00000141431; HGNC ID: 29357
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ASXL3|80816|nucleotide
ATGAAAGACAAGAGGAAGAAGAAGGACCGCACCTGGGCCGAGGCTGCCCGCCTGGCACTAGAAAAACACCCCAACTCACCAATGACAGCAAAGCAGATATTGGAA
GTCATTCAGAAAGAAGGGTTAAAAGAAACAAGTGGAACCTCTCCATTAGCCTGTCTGAATGCAATGCTTCACACTAACACTCGAATAGGGGATGGAACATTCTTC
AAAATCCCTGGAAAGTCAGGCCTCTATGCTCTCAAAAAAGAGGAGTCGTCATGCCCAGCAGATGGCACGTTGGATTTAGTCTGTGAATCTGAATTGGATGGTACA
GATATGGCCGAGGCAAATGCCCATGGAGAAGAAAATGGAGTTTGTTCGAAGCAGGTAACTGATGAAGCATCTTCCACTCGAGATTCAAGCCTTACTAACACAGCA
GTGCAAAGCAAGTTAGTGTCTTCCTTCCAGCAGCACACCAAAAAGGCTCTTAAACAGGCTTTGAGGCAGCAGCAGAAAAGAAGAAATGGAGTCTCAATGATGGTA
AACAAGACTGTTCCTCGTGTTGTTTTGACACCATTAAAGGTGTCTGATGAGCAGTCGGATTCGCCTTCAGGATCTGAATCTAAAAATGGTGAAGCAGACAGTTCA
GATAAAGAAATGAAACATGGGCAAAAATCTCCCACTGGAAAACAAACAAGTCAGCACTTAAAACGATTAAAAAAGTCTGGTTTAGGGCACTTGAAATGGACCAAA
GCTGAGGACATTGACATAGAAACCCCAGGATCTATTCTTGTCAACACTAACTTGAGGGCATTAATAAATAAACATACGTTTGCTTCCTTACCTCAGCATTTTCAA
CAATACCTCCTGCTTTTGCTCCCAGAAGTGGATAGGCAGATGGGAAGTGATGGAATTTTACGCCTCAGTACTTCAGCTCTAAATAATGAATTCTTTGCATATGCA
GCACAAGGGTGGAAACAGCGACTGGCAGAAGGAGAGTTTACCCCAGAAATGCAGTTGCGGATAAGGCAAGAAATTGAGAAGGAAAAGAAAACAGAACCTTGGAAA
GAAAAATTCTTTGAGAGGTTTTATGGAGAAAAGCTGGGCATGTCAAGAGAGGAATCTGTGAAGCTCACTACTGGACCAAACAACGCTGGAGCTCAAAGTAGTTCT
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>ASXL3|80816|protein
MKDKRKKKDRTWAEAARLALEKHPNSPMTAKQILEVIQKEGLKETSGTSPLACLNAMLHTNTRIGDGTFFKIPGKSGLYALKKEESSCPADGTLDLVCESELDGT
DMAEANAHGEENGVCSKQVTDEASSTRDSSLTNTAVQSKLVSSFQQHTKKALKQALRQQQKRRNGVSMMVNKTVPRVVLTPLKVSDEQSDSPSGSESKNGEADSS
DKEMKHGQKSPTGKQTSQHLKRLKKSGLGHLKWTKAEDIDIETPGSILVNTNLRALINKHTFASLPQHFQQYLLLLLPEVDRQMGSDGILRLSTSALNNEFFAYA
AQGWKQRLAEGEFTPEMQLRIRQEIEKEKKTEPWKEKFFERFYGEKLGMSREESVKLTTGPNNAGAQSSSSCGTSGLPVSAQTALAEQQPKSMKSPASPEPGFCA
TLCPMVEIPPKDIMAELESEDILIPEESVIQEEIAEEVETSICECQDENHKTIPEFSEEAESLTNSHEEPQIAPPEDNLESCVMMNDVLETLPHIEVKIEGKSES
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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 (0) 1 (1) 0 (0) 0 (0) 0 (3) 0 (0) 0 (2) 0 (0) 2 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top