AutismKB 2.0

Evidence Details for POP5


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Basic Information Top
Gene Symbol:POP5 ( HSPC004,RPP2,RPP20,hPop5 )
Gene Full Name: processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)
Band: 12q24.31
Quick LinksEntrez ID:51367; OMIM: 609992; Uniprot ID:POP5_HUMAN; ENSEMBL ID: ENSG00000167272; HGNC ID: 17689
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POP5|51367|nucleotide
ATGGTGCGGTTCAAGCACAGGTACCTGCTCTGCGAACTGGTGTCTGACGACCCCCGCTGCCGCCTAAGCCTCGATGACCGAGTTCTGAGCAGCCTCGTACGGGAC
ACGATCGCCAGGGTGCACGGAACTTTCGGCGCAGCCGCCTGCTCCATCGGCTTCGCGGTTCGATATCTCAATGCCTATACTGGAATAGTGCTACTTCGATGCAGA
AAAGAATTCTATCAGCTTGTGTGGTCAGCTCTTCCCTTCATCACATACTTGGAGAACAAAGGACACCGTTACCCATGCTTTTTCAACACATTACATGTGGGAGGT
ACAATAAGAACATGTCAGAAGTTCCTAATTCAGTACAACAGGAGACAGCTGTTGATCTTGTTGCAGAACTGCACTGATGAAGGAGAGCGGGAAGCTATCCAGAAG
TCTGTGACAAGAAGCTGCTTATTAGAGGAGGAGGAGGAGTCAGGTGAGGAGGCTGCAGAAGCAATGGAGTGA






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>POP5|51367|protein
MVRFKHRYLLCELVSDDPRCRLSLDDRVLSSLVRDTIARVHGTFGAAACSIGFAVRYLNAYTGIVLLRCRKEFYQLVWSALPFITYLENKGHRYPCFFNTLHVGG
TIRTCQKFLIQYNRRQLLILLQNCTDEGEREAIQKSVTRSCLLEEEEESGEEAAEAME



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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top