AutismKB 2.0

Evidence Details for PRPF6


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Basic Information Top
Gene Symbol:PRPF6 ( ANT-1,C20orf14,Prp6,TOM,U5-102K,hPrp6 )
Gene Full Name: PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
Band: 20q13.33
Quick LinksEntrez ID:24148; OMIM: NA; Uniprot ID:PRP6_HUMAN; ENSEMBL ID: ENSG00000101161; HGNC ID: 15860
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRPF6|24148|nucleotide
ATGAACAAGAAGAAGAAACCGTTCCTAGGGATGCCCGCGCCCCTCGGCTACGTGCCGGGGCTGGGCCGGGGCGCCACTGGCTTCACCACGCGGTCAGACATTGGG
CCCGCCCGTGATGCAAATGACCCTGTGGATGATCGCCATGCACCCCCAGGCAAGAGAACCGTTGGGGACCAGATGAAGAAAAATCAGGCTGCTGACGATGACGAC
GAGGATCTAAATGACACCAATTACGATGAGTTTAATGGCTATGCTGGGAGCCTCTTCTCAAGTGGACCCTACGAGAAAGATGATGAGGAAGCAGATGCTATCTAT
GCAGCCCTGGATAAAAGGATGGATGAAAGAAGAAAAGAAAGACGGGAGCAAAGGGAGAAAGAAGAAATAGAGAAATATCGTATGGAACGCCCCAAAATCCAACAG
CAGTTCTCAGACCTCAAGAGGAAGTTGGCAGAAGTCACAGAAGAAGAGTGGCTGAGCATCCCCGAGGTTGGCGATGCCAGAAATAAACGTCAGCGGAACCCACGC
TATGAGAAGCTGACCCCTGTTCCTGACAGTTTCTTTGCCAAACATTTACAGACCGGAGAGAACCATACCTCAGTGGATCCCCGACAAACTCAATTTGGAGGTCTT
AACACACCCTATCCAGGTGGACTAAACACTCCATACCCAGGTGGAATGACGCCAGGACTGATGACACCTGGCACAGGTGAGCTGGACATGAGGAAGATTGGCCAA
GCGAGGAACACTCTGATGGACATGAGGCTGAGCCAGGTGTCTGACTCCGTGAGTGGACAGACCGTCGTTGACCCCAAAGGCTACCTGACGGATTTAAATTCCATG
ATCCCGACACACGGAGGAGACATCAATGATATCAAGAAGGCGCGACTGCTCCTCAAGTCTGTTCGGGAGACGAACCCTCATCACCCGCCAGCCTGGATTGCATCA
GCCCGCCTGGAAGAAGTCACTGGGAAGCTACAAGTAGCTCGGAACCTTATCATGAAGGGGACGGAGATGTGCCCCAAGAGTGAAGATGTCTGGCTGGAAGCAGCC
AGGTTGCAGCCTGGGGACACAGCCAAGGCCGTGGTAGCCCAAGCTGTCCGTCATCTCCCACAGTCTGTCAGGATTTACATCAGAGCCGCAGAGCTGGAAACGGAC
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>PRPF6|24148|protein
MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQAADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIY
AALDKRMDERRKERREQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLTPVPDSFFAKHLQTGENHTSVDPRQTQFGGL
NTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLSQVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIAS
ARLEEVTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKAVVAQAVRHLPQSVRIYIRAAELETDIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDAR
IMLSRAVECCPTSVELWLALARLETYENARKVLNKARENIPTDRHIWITAAKLEEANGNTQMVEKIIDRAITSLRANGVEINREQWIQDAEECDRAGSVATCQAV
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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 (3) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top