AutismKB 2.0

Evidence Details for SKIV2L


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Basic Information Top
Gene Symbol:SKIV2L ( 170A,DDX13,HLP,SKI2,SKI2W,SKIV2 )
Gene Full Name: superkiller viralicidic activity 2-like (S. cerevisiae)
Band: 6p21.33
Quick LinksEntrez ID:6499; OMIM: 600478; Uniprot ID:SKIV2_HUMAN; ENSEMBL ID: ENSG00000204351; HGNC ID: 10898
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SKIV2L|6499|nucleotide
ATGATGGAGACAGAGCGACTTGTGCTACCCCCTCCAGATCCCCTGGACCTACCCCTTCGGGCCGTGGAGCTCGGATGCACGGGGCACTGGGAGCTGCTGAACTTG
CCTGGAGCTCCAGAGAGTAGCCTTCCCCATGGCCTCCCTCCTTGTGCCCCAGATCTGCAGCAAGAAGCAGAACAGTTGTTTCTGTCATCCCCAGCCTGGCTGCCT
CTGCATGGTGTGGAGCACTCAGCCCGAAAATGGCAGAGGAAGACGGATCCCTGGTCTCTTTTGGCTGTCCTGGGAGCCCCAGTCCCATCCGACCTACAGGCCCAA
AGACACCCAACCACAGGCCAGATACTGGGTTACAAAGAGGTCTTGCTGGAGAACACAAATCTCTCGGCTACAACCTCCTTGTCTCTTCGCCGGCCTCCAGGGCCA
GCCTCCCAGTCCTTATGGGGAAATCCAACTCAGTATCCCTTCTGGCCAGGGGGGATGGATGAACCCACCATAACAGATCTGAACACACGGGAGGAGGCTGAGGAG
GAGATAGACTTTGAGAAAGATCTTCTTACTATTCCACCTGGTTTCAAGAAAGGCATGGACTTTGCACCAAAAGATTGTCCAACTCCAGCTCCTGGACTACTAAGC
CTTAGCTGTATGTTGGAGCCTCTGGATTTGGGTGGGGGTGACGAGGATGAGAATGAGGCAGTGGGACAGCCAGGAGGTCCCAGAGGGGACACTGTTTCAGCCTCT
CCCTGCAGTGCTCCCCTGGCCCGAGCAAGCAGCTTGGAAGACCTAGTGTTGAAGGAAGCGTCCACAGCTGTATCCACCCCAGAGGCCCCAGAGCCTCCATCTCAG
GAGCAGTGGGCCATCCCTGTGGACGCCACCTCCCCTGTTGGTGATTTCTATCGCCTCATTCCCCAGCCAGCCTTCCAGTGGGCATTTGAGCCAGATGTGTTTCAG
AAACAGGCCATCCTGCACTTGGAACGGCATGACTCTGTCTTTGTCGCAGCTCACACATCTGCAGGAAAAACAGTTGTGGCTGAATATGCCATTGCCCTGGCCCAG
AAACACATGACACGCACCATCTACACTTCGCCCATCAAGGCCCTGAGCAACCAGAAGTTCCGGGACTTCCGAAACACATTCGGGGATGTGGGGCTGCTCACCGGG
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>SKIV2L|6499|protein
MMETERLVLPPPDPLDLPLRAVELGCTGHWELLNLPGAPESSLPHGLPPCAPDLQQEAEQLFLSSPAWLPLHGVEHSARKWQRKTDPWSLLAVLGAPVPSDLQAQ
RHPTTGQILGYKEVLLENTNLSATTSLSLRRPPGPASQSLWGNPTQYPFWPGGMDEPTITDLNTREEAEEEIDFEKDLLTIPPGFKKGMDFAPKDCPTPAPGLLS
LSCMLEPLDLGGGDEDENEAVGQPGGPRGDTVSASPCSAPLARASSLEDLVLKEASTAVSTPEAPEPPSQEQWAIPVDATSPVGDFYRLIPQPAFQWAFEPDVFQ
KQAILHLERHDSVFVAAHTSAGKTVVAEYAIALAQKHMTRTIYTSPIKALSNQKFRDFRNTFGDVGLLTGDVQLHPEASCLIMTTEILRSMLYSGSDVIRDLEWV
IFDEVHYINDVERGVVWEEVLIMLPDHVSIILLSATVPNALEFADWIGRLKRRQIYVISTVTRPVPLEHYLFTGNSSKTQGELFLLLDSRGAFHTKGYYAAVEAK
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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) 1 (2) 0 (0) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top