AutismKB 2.0

Evidence Details for RPP40


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Basic Information Top
Gene Symbol:RPP40 ( RNASEP1,bA428J1.3 )
Gene Full Name: ribonuclease P/MRP 40kDa subunit
Band: 6p25.1
Quick LinksEntrez ID:10799; OMIM: 606117; Uniprot ID:RPP40_HUMAN; ENSEMBL ID: ENSG00000124787; HGNC ID: 20992
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RPP40|10799|nucleotide
ATGGCCACGCTGCGCCGGCTTCGGGAGGCGCCGCGGCACTTACTGGTTTGCGAGAAATCCAACTTCGGCAACCACAAGTCGCGCCACCGGCATCTTGTGCAGACG
CACTACTATAACTACAGGGTTTCATTTCTCATTCCTGAATGTGGGATACTATCGGAAGAACTGAAAAACCTGGTCATGAACACTGGACCCTATTACTTTGTGAAG
AATTTACCTCTTCATGAATTAATTACACCTGAATTCATCAGTACCTTTATAAAGAAAGGTTCTTGCTATGCACTAACATACAATACACATATTGATGAAGATAAT
ACTGTTGCCCTGCTACCAAATGGGAAATTAATTTTGTCACTGGATAAAGACACTTATGAAGAAACTGGACTTCAGGGTCATCCATCTCAGTTTTCTGGCAGAAAA
ATTATGAAATTTATTGTTTCCATTGATTTGATGGAATTATCCTTAAACTTGGATTCTAAGAAGTATGAAAGAATATCTTGGTCTTTCAAAGAAAAGAAGCCATTG
AAATTTGATTTTCTTTTGGCTTGGCATAAAACAGGTTCAGAAGAATCGACAATGATGTCATATTTTTCCAAGTACCAAATTCAGGAGCATCAGCCAAAAGTAGCA
CTGAGCACGTTGAGAGATCTCCAGTGCCCAGTGCTGCAGAGCAGCGAGCTGGAGGGAACGCCAGAGGTGTCCTGCCGGGCTCTGGAGCTCTTCGACTGGCTCGGC
GCCGTCTTCAGTAATGTCGACCTAAATAATGAGCCTAATAATTTCATATCAACCTATTGCTGTCCTGAGCCAAGCACAGTGGTGGCAAAAGCTTATTTGTGTACA
ATCACTGGCTTCATACTTCCAGAGAAGATCTGTCTCCTATTGGAACATCTCTGTCACTACTTTGATGAACCGAAGTTAGCTCCATGGGTTACACTGTCCGTTCAA
GGCTTTGCAGACAGCCCTGTTTCTTGGGAAAAAAATGAACATGGTTTTCGAAAAGGAGGAGAACATTTATATAACTTTGTGATTTTTAATAATCAGGACTATTGG
CTTCAGATGGCTGTTGGGGCAAATGATCACTGTCCACCATAA
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>RPP40|10799|protein
MATLRRLREAPRHLLVCEKSNFGNHKSRHRHLVQTHYYNYRVSFLIPECGILSEELKNLVMNTGPYYFVKNLPLHELITPEFISTFIKKGSCYALTYNTHIDEDN
TVALLPNGKLILSLDKDTYEETGLQGHPSQFSGRKIMKFIVSIDLMELSLNLDSKKYERISWSFKEKKPLKFDFLLAWHKTGSEESTMMSYFSKYQIQEHQPKVA
LSTLRDLQCPVLQSSELEGTPEVSCRALELFDWLGAVFSNVDLNNEPNNFISTYCCPEPSTVVAKAYLCTITGFILPEKICLLLEHLCHYFDEPKLAPWVTLSVQ
GFADSPVSWEKNEHGFRKGGEHLYNFVIFNNQDYWLQMAVGANDHCPP

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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top