AutismKB 2.0

Evidence Details for ITGAV


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Basic Information Top
Gene Symbol:ITGAV ( CD51,DKFZp686A08142,MSK8,VNRA )
Gene Full Name: integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)
Band: 2q32.1
Quick LinksEntrez ID:3685; OMIM: 193210; Uniprot ID:ITAV_HUMAN; ENSEMBL ID: ENSG00000138448; HGNC ID: 6150
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITGAV|3685|nucleotide
ATGCTCCTAGGCACCCTCCTTCTGATCCTGTACATCTTAATGTTGTGCCGGATGTTTCTTCTCGTGGGAGCTCCCAAAGCAAACACCACCCAGCCTGGGATTGTG
GAAGGAGGGCAGGTCCTCAAATGTGACTGGTCTTCTACCCGCCGGTGCCAGCCAATTGAATTTGATGCAACAGGCAATAGAGATTATGCCAAGGATGATCCATTG
GAATTTAAGTCCCATCAGTGGTTTGGAGCATCTGTGAGGTCGAAACAGGATAAAATTTTGGCCTGTGCCCCATTGTACCATTGGAGAACTGAGATGAAACAGGAG
CGAGAGCCTGTTGGAACATGCTTTCTTCAAGATGGAACAAAGACTGTTGAGTATGCTCCATGTAGATCACAAGATATTGATGCTGATGGACAGGGATTTTGTCAA
GGAGGATTCAGCATTGATTTTACTAAAGCTGACAGAGTACTTCTTGGTGGTCCTGGTAGCTTTTATTGGCAAGGTCAGCTTATTTCGGATCAAGTGGCAGAAATC
GTATCTAAATACGACCCCAATGTTTACAGCATCAAGTATAATAACCAATTAGCAACTCGGACTGCACAAGCTATTTTTGATGACAGCTATTTGGGTTATTCTGTG
GCTGTCGGAGATTTCAATGGTGATGGCATAGATGACTTTGTTTCAGGAGTTCCAAGAGCAGCAAGGACTTTGGGAATGGTTTATATTTATGATGGGAAGAACATG
TCCTCCTTATACAATTTTACTGGCGAGCAGATGGCTGCATATTTCGGATTTTCTGTAGCTGCCACTGACATTAATGGAGATGATTATGCAGATGTGTTTATTGGA
GCACCTCTCTTCATGGATCGTGGCTCTGATGGCAAACTCCAAGAGGTGGGGCAGGTCTCAGTGTCTCTACAGAGAGCTTCAGGAGACTTCCAGACGACAAAGCTG
AATGGATTTGAGGTCTTTGCACGGTTTGGCAGTGCCATAGCTCCTTTGGGAGATCTGGACCAGGATGGTTTCAATGATATTGCAATTGCTGCTCCATATGGGGGT
GAAGATAAAAAAGGAATTGTTTATATCTTCAATGGAAGATCAACAGGCTTGAACGCAGTCCCATCTCAAATCCTTGAAGGGCAGTGGGCTGCTCGAAGCATGCCA
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>ITGAV|3685|protein
MLLGTLLLILYILMLCRMFLLVGAPKANTTQPGIVEGGQVLKCDWSSTRRCQPIEFDATGNRDYAKDDPLEFKSHQWFGASVRSKQDKILACAPLYHWRTEMKQE
REPVGTCFLQDGTKTVEYAPCRSQDIDADGQGFCQGGFSIDFTKADRVLLGGPGSFYWQGQLISDQVAEIVSKYDPNVYSIKYNNQLATRTAQAIFDDSYLGYSV
AVGDFNGDGIDDFVSGVPRAARTLGMVYIYDGKNMSSLYNFTGEQMAAYFGFSVAATDINGDDYADVFIGAPLFMDRGSDGKLQEVGQVSVSLQRASGDFQTTKL
NGFEVFARFGSAIAPLGDLDQDGFNDIAIAAPYGGEDKKGIVYIFNGRSTGLNAVPSQILEGQWAARSMPPSFGYSMKGATDIDKNGYPDLIVGAFGVDRAILYR
ARPVITVNAGLEVYPSILNQDNKTCSLPGTALKVSCFNVRFCLKADGKGVLPRKLNFQVELLLDKLKQKGAIRRALFLYSRSPSHSKNMTISRGGLMQCEELIAY
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (4)
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
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top