AutismKB 2.0

Evidence Details for AVEN


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Basic Information Top
Gene Symbol:AVEN ( PDCD12 )
Gene Full Name: apoptosis, caspase activation inhibitor
Band: 15q14
Quick LinksEntrez ID:57099; OMIM: 605265; Uniprot ID:AVEN_HUMAN; ENSEMBL ID: ENSG00000169857; HGNC ID: 13509
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AVEN|57099|nucleotide
ATGCAGGCGGAGCGAGGAGCTCGGGGAGGCCGTGGGCGGCGGCCAGGCCGCGGCCGGCCTGGCGGAGATCGCCACAGCGAGCGGCCCGGAGCCGCAGCGGCGGTA
GCCAGAGGCGGCGGCGGAGGCGGCGGCGGGGACGGAGGCGGACGCCGGGGCCGTGGCCGTGGCCGGGGCTTCCGCGGCGCTCGCGGAGGCCGAGGAGGAGGAGGC
GCCCCGCGAGGCAGCCGCCGGGAGCCGGGAGGCTGGGGCGCAGGGGCCAGCGCGCCGGTTGAAGATGACAGCGATGCAGAGACCTATGGAGAAGAGAATGATGAA
CAGGGAAATTATTCTAAAAGAAAGATTGTCTCTAACTGGGATCGATATCAAGATATTGAAAAAGAGGTCAATAATGAAAGTGGAGAGTCACAGAGGGGAACAGAT
TTCAGTGTCCTCCTTAGCTCTGCAGGGGACTCATTCTCACAGTTCCGGTTTGCTGAGGAGAAAGAATGGGATAGTGAAGCTTCTTGTCCAAAACAGAATTCAGCA
TTTTATGTGGATAGTGAGTTATTGGTTCGAGCCCTTCAAGAGCTGCCTCTCTGCCTCCGACTCAACGTTGCTGCCGAACTGGTCCAGGGTACAGTTCCTTTAGAG
GTTCCTCAGGTGAAACCAAAGAGAACTGATGATGGCAAGGGATTAGGGATGCAGTTAAAGGGGCCCTTGGGGCCTGGAGGAAGGGGGCCCATCTTTGAGCTGAAA
TCTGTGGCTGCTGGCTGCCCTGTGTTGCTGGGCAAAGACAACCCAAGCCCGGGTCCTTCAAGGGATTCTCAGAAACCCACTTCCCCACTGCAGTCAGCAGGAGAC
CATTTGGAAGAAGAACTAGATCTGTTGCTTAATTTAGATGCACCTATAAAAGAGGGAGATAACATCTTACCAGATCAGACGTCTCAGGACCTGAAATCCAAGGAA
GATGGGGAGGTGGTCCAAGAGGAAGAAGTTTGTGCAAAACCATCTGTGACTGAAGAAAAAAACATGGAACCTGAGCAACCAAGTACCTCCAAAAATGTTACCGAG
GAAGAGCTGGAAGACTGGTTGGACAGCATGATTTCCTAA
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>AVEN|57099|protein
MQAERGARGGRGRRPGRGRPGGDRHSERPGAAAAVARGGGGGGGGDGGGRRGRGRGRGFRGARGGRGGGGAPRGSRREPGGWGAGASAPVEDDSDAETYGEENDE
QGNYSKRKIVSNWDRYQDIEKEVNNESGESQRGTDFSVLLSSAGDSFSQFRFAEEKEWDSEASCPKQNSAFYVDSELLVRALQELPLCLRLNVAAELVQGTVPLE
VPQVKPKRTDDGKGLGMQLKGPLGPGGRGPIFELKSVAAGCPVLLGKDNPSPGPSRDSQKPTSPLQSAGDHLEEELDLLLNLDAPIKEGDNILPDQTSQDLKSKE
DGEVVQEEEVCAKPSVTEEKNMEPEQPSTSKNVTEEELEDWLDSMIS

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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) 1 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top