AutismKB 2.0

Evidence Details for VWA2


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Basic Information Top
Gene Symbol:VWA2 ( AMACO,CCSP-2,MGC157755,NET42 )
Gene Full Name: von Willebrand factor A domain containing 2
Band: 10q25.3
Quick LinksEntrez ID:340706; OMIM: NA; Uniprot ID:VWA2_HUMAN; ENSEMBL ID: ENSG00000165816; HGNC ID: 24709
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>VWA2|340706|nucleotide
ATGCCCCCTTTCCTGTTGCTGGAAGCCGTCTGTGTTTTCCTGTTTTCCAGAGTGCCCCCATCTCTCCCTCTCCAGGAAGTCCATGTAAGCAAAGAAACCATCGGG
AAGATTTCAGCTGCCAGCAAAATGATGTGGTGCTCGGCTGCAGTGGACATCATGTTTCTGTTAGATGGGTCTAACAGCGTCGGGAAAGGGAGCTTTGAAAGGTCC
AAGCACTTTGCCATCACAGTCTGTGACGGTCTGGACATCAGCCCCGAGAGGGTCAGAGTGGGAGCATTCCAGTTCAGTTCCACTCCTCATCTGGAATTCCCCTTG
GATTCATTTTCAACCCAACAGGAAGTGAAGGCAAGAATCAAGAGGATGGTTTTCAAAGGAGGGCGCACGGAGACGGAACTTGCTCTGAAATACCTTCTGCACAGA
GGGTTGCCTGGAGGCAGAAATGCTTCTGTGCCCCAGATCCTCATCATCGTCACTGATGGGAAGTCCCAGGGGGATGTGGCACTGCCATCCAAGCAGCTGAAGGAA
AGGGGTGTCACTGTGTTTGCTGTGGGGGTCAGGTTTCCCAGGTGGGAGGAGCTGCATGCACTGGCCAGCGAGCCTAGAGGGCAGCACGTGCTGTTGGCTGAGCAG
GTGGAGGATGCCACCAACGGCCTCTTCAGCACCCTCAGCAGCTCGGCCATCTGCTCCAGCGCCACGCCAGACTGCAGGGTCGAGGCTCACCCCTGTGAGCACAGG
ACGCTGGAGATGGTCCGGGAGTTCGCTGGCAATGCCCCATGCTGGAGAGGATCGCGGCGGACCCTTGCGGTGCTGGCTGCACACTGTCCCTTCTACAGCTGGAAG
AGAGTGTTCCTAACCCACCCTGCCACCTGCTACAGGACCACCTGCCCAGGCCCCTGTGACTCGCAGCCCTGCCAGAATGGAGGCACATGTGTTCCAGAAGGACTG
GACGGCTACCAGTGCCTCTGCCCGCTGGCCTTTGGAGGGGAGGCTAACTGTGCCCTGAAGCTGAGCCTGGAATGCAGGGTCGACCTCCTCTTCCTGCTGGACAGC
TCTGCGGGCACCACTCTGGACGGCTTCCTGCGGGCCAAAGTCTTCGTGAAGCGGTTTGTGCGGGCCGTGCTGAGCGAGGACTCTCGGGCCCGAGTGGGTGTGGCC
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>VWA2|340706|protein
MPPFLLLEAVCVFLFSRVPPSLPLQEVHVSKETIGKISAASKMMWCSAAVDIMFLLDGSNSVGKGSFERSKHFAITVCDGLDISPERVRVGAFQFSSTPHLEFPL
DSFSTQQEVKARIKRMVFKGGRTETELALKYLLHRGLPGGRNASVPQILIIVTDGKSQGDVALPSKQLKERGVTVFAVGVRFPRWEELHALASEPRGQHVLLAEQ
VEDATNGLFSTLSSSAICSSATPDCRVEAHPCEHRTLEMVREFAGNAPCWRGSRRTLAVLAAHCPFYSWKRVFLTHPATCYRTTCPGPCDSQPCQNGGTCVPEGL
DGYQCLCPLAFGGEANCALKLSLECRVDLLFLLDSSAGTTLDGFLRAKVFVKRFVRAVLSEDSRARVGVATYSRELLVAVPVGEYQDVPDLVWSLDGIPFRGGPT
LTGSALRQAAERGFGSATRTGQDRPRRVVVLLTESHSEDEVAGPARHARARELLLLGVGSEAVRAELEEITGSPKHVMVYSDPQDLFNQIPELQGKLCSRQRPGC
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top