AutismKB 2.0

Evidence Details for VKORC1L1


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Basic Information Top
Gene Symbol:VKORC1L1 ( DKFZp762H0113 )
Gene Full Name: vitamin K epoxide reductase complex, subunit 1-like 1
Band: 7q11.21
Quick LinksEntrez ID:154807; OMIM: 608838; Uniprot ID:VKORL_HUMAN; ENSEMBL ID: ENSG00000196715; HGNC ID: 21492
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>VKORC1L1|154807|nucleotide
ATGGCGGCTCCCGTCCTGCTAAGAGTGTCGGTGCCGCGGTGGGAGCGGGTGGCCCGGTATGCAGTGTGCGCTGCCGGAATCCTGCTCTCCATCTACGCCTACCAC
GTGGAGCGGGAGAAGGAGCGGGACCCCGAGCACCGGGCCCTCTGCGACCTGGGGCCCTGGGTGAAGTGCTCCGCCGCCCTTGCCTCCAGATGGGGTCGAGGATTT
GGTCTTTTGGGTTCCATTTTTGGAAAGGATGGTGTATTAAACCAGCCAAACAGTGTCTTTGGACTTATATTTTATATACTACAGTTATTACTTGGCATGACAGCA
AGCGCTGTGGCGGCTTTGATCCTCATGACGTCCTCCATCATGTCGGTCGTGGGGTCCCTGTACCTGGCCTACATTCTGTACTTTGTGCTGAAGGAGTTCTGCATC
ATCTGCATCGTCACGTACGTGCTGAACTTCCTTCTTCTCATTATCAACTACAAACGACTAGTTTACTTGAACGAGGCCTGGAAGCGGCAGCTGCAACCCAAGCAG
GACTGA





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>VKORC1L1|154807|protein
MAAPVLLRVSVPRWERVARYAVCAAGILLSIYAYHVEREKERDPEHRALCDLGPWVKCSAALASRWGRGFGLLGSIFGKDGVLNQPNSVFGLIFYILQLLLGMTA
SAVAALILMTSSIMSVVGSLYLAYILYFVLKEFCIICIVTYVLNFLLLIINYKRLVYLNEAWKRQLQPKQD



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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top