AutismKB 2.0

Evidence Details for IVL


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Basic Information Top
Gene Symbol:IVL ( - )
Gene Full Name: involucrin
Band: 1q21.3
Quick LinksEntrez ID:3713; OMIM: 147360; Uniprot ID:INVO_HUMAN; ENSEMBL ID: ENSG00000163207; HGNC ID: 6187
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IVL|3713|nucleotide
ATGTCCCAGCAACACACACTGCCAGTGACCCTCTCCCCTGCCCTCAGTCAGGAGCTCCTCAAGACTGTTCCTCCTCCAGTCAATACCCATCAGGAGCAAATGAAA
CAGCCAACTCCACTGCCTCCCCCATGCCAGAAGGTGCCTGTCGAGCTCCCAGTGGAGGTCCCATCAAAGCAAGAGGAAAAGCACATGACTGCTGTAAAGGGACTG
CCTGAGCAAGAATGTGAGCAACAGCAGAAGGAGCCACAGGAGCAGGAGCTGCAGCAACAGCACTGGGAACAGCATGAGGAATATCAGAAAGCAGAAAACCCAGAG
CAGCAGCTTAAGCAGGAGAAAACACAAAGGGATCAGCAGCTAAACAAACAGCTGGAAGAAGAGAAGAAGCTCTTAGACCAGCAACTGGATCAAGAGCTAGTCAAG
AGAGATGAGCAACTGGGAATGAAGAAAGAGCAACTGTTGGAGCTCCCAGAGCAGCAGGAGGGGCACCTGAAGCACCTAGAGCAGCAGGAGGGACAGCTGAAGCAC
CCGGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAG
GGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCAGAGCAGCAGGAGGGGCAGCTGGAGCTCCCACAGCAGCAGGAGGGGCAGCTGGAGCTC
TCTGAGCAGCAGGAGGGGCAGCTGGAGCTCTCTGAGCAGCAGGAGGGACAGCTGAAGCACCTGGAGCACCAGGAGGGGCAGCTGGAGGTCCCAGAGGAGCAGATG
GGGCAGCTGAAGTACCTGGAACAGCAGGAGGGGCAGCTGAAGCACCTGGATCAGCAGGAGAAGCAGCCAGAGCTCCCAGAGCAGCAGATGGGGCAGCTGAAGCAC
CTGGAGCAGCAGGAGGGGCAGCCTAAGCATCTGGAGCAGCAGGAGGGGCAACTGGAGCAGCTGGAGGAGCAGGAGGGGCAGCTGAAGCACCTGGAGCAGCAGGAG
GGGCAGCTGGAGCACCTGGAGCACCAGGAAGGGCAGCTGGGGCTCCCAGAGCAGCAGGTGCTGCAGCTGAAGCAGCTAGAGAAGCAGCAGGGGCAGCCAAAGCAC
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>IVL|3713|protein
MSQQHTLPVTLSPALSQELLKTVPPPVNTHQEQMKQPTPLPPPCQKVPVELPVEVPSKQEEKHMTAVKGLPEQECEQQQKEPQEQELQQQHWEQHEEYQKAENPE
QQLKQEKTQRDQQLNKQLEEEKKLLDQQLDQELVKRDEQLGMKKEQLLELPEQQEGHLKHLEQQEGQLKHPEQQEGQLELPEQQEGQLELPEQQEGQLELPEQQE
GQLELPEQQEGQLELPEQQEGQLELPQQQEGQLELSEQQEGQLELSEQQEGQLKHLEHQEGQLEVPEEQMGQLKYLEQQEGQLKHLDQQEKQPELPEQQMGQLKH
LEQQEGQPKHLEQQEGQLEQLEEQEGQLKHLEQQEGQLEHLEHQEGQLGLPEQQVLQLKQLEKQQGQPKHLEEEEGQLKHLVQQEGQLKHLVQQEGQLEQQERQV
EHLEQQVGQLKHLEEQEGQLKHLEQQQGQLEVPEQQVGQPKNLEQEEKQLELPEQQEGQVKHLEKQEAQLELPEQQVGQPKHLEQQEKHLEHPEQQDGQLKHLEQ
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top