AutismKB 2.0

Evidence Details for OVCA2


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Basic Information Top
Gene Symbol:OVCA2 ( - )
Gene Full Name: ovarian tumor suppressor candidate 2
Band: 17p13.3
Quick LinksEntrez ID:124641; OMIM: 607896; Uniprot ID:OVCA2_HUMAN; ENSEMBL ID: ENSG00000214014; HGNC ID: 24203
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OVCA2|124641|nucleotide
ATGGCCGCGCAGCGACCCCTGCGGGTCCTGTGCCTGGCGGGCTTCCGGCAGAGCGAGCGGGGCTTCCGTGAGAAGACCGGGGCGCTGAGGAAGGCGCTGCGGGGT
CGCGCCGAGCTCGTGTGCCTCAGCGGCCCGCACCCGGTCCCCGACCCCCCGGGCCCCGAGGGCGCCAGATCAGACTTCGGGTCCTGCCCTCCGGAGGAGCAGCCT
CGAGGCTGGTGGTTTTCAGAGCAGGAGGCCGACGTTTTCTCCGCATTGGAAGAGCCCGCCGTCTGCAGGGGCCTGGAGGAATCACTGGGGATGGTGGCACAGGCA
CTGAACAGGCTGGGGCCTTTTGACGGCCTTCTTGGTTTCAGCCAAGGGGCTGCGCTAGCAGCCCTTGTGTGTGCCCTGGGCCAGGCAGGCGATCCCCGCTTCCCC
TTGCCACGGTTTATCCTCTTGGTGTCTGGTTTCTGTCCCCGGGGCATTGGGTTCAAGGAATCCATCCTGCAAAGGCCCTTGTCATTGCCTTCGCTCCATGTTTTT
GGGGACACTGACAAAGTCATCCCCTCTCAGGAGAGTGTGCAACTGGCCAGCCAATTTCCCGGAGCCATCACCCTCACCCACTCTGGTGGCCACTTCATTCCAGCA
GCTGCACCCCAGCGTCAGGCCTACCTCAAGTTCTTGGACCAGTTTGCAGAGTGA




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>OVCA2|124641|protein
MAAQRPLRVLCLAGFRQSERGFREKTGALRKALRGRAELVCLSGPHPVPDPPGPEGARSDFGSCPPEEQPRGWWFSEQEADVFSALEEPAVCRGLEESLGMVAQA
LNRLGPFDGLLGFSQGAALAALVCALGQAGDPRFPLPRFILLVSGFCPRGIGFKESILQRPLSLPSLHVFGDTDKVIPSQESVQLASQFPGAITLTHSGGHFIPA
AAPQRQAYLKFLDQFAE


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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top