AutismKB 2.0

Evidence Details for SKIV2L2


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Basic Information Top
Gene Symbol:SKIV2L2 ( Dob1,KIAA0052,MGC142069,Mtr4,fSAP118 )
Gene Full Name: superkiller viralicidic activity 2-like 2 (S. cerevisiae)
Band: 5q11.2
Quick LinksEntrez ID:23517; OMIM: NA; Uniprot ID:SK2L2_HUMAN; ENSEMBL ID: ENSG00000039123; HGNC ID: 18734
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SKIV2L2|23517|nucleotide
ATGGCGGACGCATTCGGAGATGAGCTGTTCAGCGTGTTCGAGGGCGACTCGACCACTGCGGCGGGAACCAAAAAAGACAAGGAAAAGGACAAGGGGAAATGGAAG
GGGCCTCCAGGGTCTGCAGACAAGGCAGGGAAACGTTTTGATGGTAAATTACAATCAGAATCAACTAATAATGGAAAAAATAAGAGAGATGTAGATTTCGAAGGT
ACAGATGAACCCATTTTTGGAAAGAAGCCCAGGATAGAAGAGTCAATAACTGAAGACTTAAGTTTGGCAGACCTGATGCCCAGAGTCAAGGTACAATCAGTTGAA
ACTGTTGAAGGGTGTACACATGAGGTTGCACTTCCTGCAGAAGAGGATTATTTACCACTTAAACCACGAGTTGGAAAAGCTGCTAAGGAATACCCGTTCATTCTT
GATGCTTTTCAAAGAGAGGCCATTCAGTGTGTTGACAATAATCAGTCTGTTCTAGTATCTGCACATACCTCAGCGGGAAAAACAGTATGCGCCGAGTATGCCATT
GCATTGGCCTTAAGGGAAAAGCAGCGTGTAATATTTACCAGCCCAATTAAGGCTCTGAGTAACCAAAAATACCGTGAAATGTATGAAGAATTTCAAGATGTTGGT
TTGATGACTGGTGATGTTACTATTAATCCTACGGCATCTTGTCTTGTTATGACCACAGAGATTTTGAGAAGTATGCTTTACAGAGGTTCCGAAGTTATGAGAGAA
GTTGCTTGGGTTATATTTGATGAAATTCATTATATGAGAGATTCAGAACGTGGTGTAGTATGGGAAGAAACTATTATTTTGCTTCCTGATAACGTCCACTATGTC
TTTCTTTCGGCTACTATTCCAAATGCCCGACAGTTTGCTGAATGGATTTGCCATTTACATAAACAGCCTTGTCATGTTATTTACACAGATTATCGGCCCACTCCA
TTGCAACACTACATTTTTCCAGCAGGGGGAGATGGCCTGCATCTTGTGGTTGATGAAAATGGTGACTTCAGAGAAGATAATTTTAATACTGCAATGCAAGTGCTT
CGAGATGCAGGTGATTTGGCCAAAGGAGACCAGAAAGGGCGGAAAGGAGGAACAAAAGGACCATCAAATGTTTTCAAAATTGTGAAGATGATTATGGAAAGAAAT
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>SKIV2L2|23517|protein
MADAFGDELFSVFEGDSTTAAGTKKDKEKDKGKWKGPPGSADKAGKRFDGKLQSESTNNGKNKRDVDFEGTDEPIFGKKPRIEESITEDLSLADLMPRVKVQSVE
TVEGCTHEVALPAEEDYLPLKPRVGKAAKEYPFILDAFQREAIQCVDNNQSVLVSAHTSAGKTVCAEYAIALALREKQRVIFTSPIKALSNQKYREMYEEFQDVG
LMTGDVTINPTASCLVMTTEILRSMLYRGSEVMREVAWVIFDEIHYMRDSERGVVWEETIILLPDNVHYVFLSATIPNARQFAEWICHLHKQPCHVIYTDYRPTP
LQHYIFPAGGDGLHLVVDENGDFREDNFNTAMQVLRDAGDLAKGDQKGRKGGTKGPSNVFKIVKMIMERNFQPVIIFSFSKKDCEAYALQMTKLDFNTDEEKKMV
EEVFSNAIDCLSDEDKKLPQVEHVLPLLKRGIGIHHGGLLPILKETIEILFSEGLIKALFATETFAMGINMPARTVLFTNARKFDGKDFRWISSGEYIQMSGRAG
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top