AutismKB 2.0

Evidence Details for RPAP1


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Basic Information Top
Gene Symbol:RPAP1 ( DKFZp727M111,FLJ12732,KIAA1403,MGC858 )
Gene Full Name: RNA polymerase II associated protein 1
Band: 15q15.1
Quick LinksEntrez ID:26015; OMIM: 611475; Uniprot ID:RPAP1_HUMAN; ENSEMBL ID: ENSG00000103932; HGNC ID: 24567
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RPAP1|26015|nucleotide
ATGCTGTCGAGACCGAAGCCAGGGGAGTCCGAGGTGGACCTGCTGCACTTCCAGAGTCAGTTTCTCGCAGCTGGTGCAGCCCCAGCAGTGCAGTTGGTGAAGAAA
GGAAATAGGGGCGGTGGTGATGCCAACTCAGACCGGCCTCCGCTCCAGGACCATCGGGATGTGGTGATGTTGGACAATCTCCCAGATTTGCCCCCAGCTTTGGTC
CCTTCTCCTCCAAAGAGAGCCAGGCCCAGCCCTGGCCACTGCCTGCCTGAGGATGAGGACCCAGAAGAGAGGCTGAGGAGGCATGATCAGCACATCACTGCTGTC
TTGACTAAGATTATTGAACGAGATACAAGTTCAGTGGCCGTGAATCTGCCTGTGCCCAGTGGTGTTGCTTTCCCTGCTGTGTTCCTTCGCTCGCGGGACACACAG
GGGAAATCAGCAACATCTGGTAAGAGAAGCATCTTTGCCCAGGAAATTGCGGCAAGGAGGATAGCTGAAGCCAAGGGCCCATCAGTTGGGGAAGTTGTGCCCAAC
GTGGGCCCACCAGAGGGTGCCGTGACCTGTGAGACACCCACTCCTAGGAACCAGGGCTGCCAGCTTCCTGGGAGCAGCCACAGCTTTCAGGGACCCAATCTGGTC
ACAGGGAAGGGGCTCAGGGATCAAGAAGCTGAGCAGGAAGCCCAGACTATCCATGAAGAGAACATAGCAAGACTGCAGGCCATGGCTCCTGAGGAGATCCTGCAG
GAACAGCAGCGGTTGCTGGCCCAGCTTGACCCCAGCTTGGTTGCTTTCTTGAGATCTCACAGCCACACGCAAGAGCAAACAGGAGAGACAGCCTCTGAGGAGCAG
AGGCCAGGAGGACCCTCTGCTAATGTCACCAAGGAGGAACCCCTCATGTCAGCTTTTGCCAGTGAGCCCAGGAAGAGAGACAAGCTGGAGCCAGAAGCCCCAGCT
CTGGCATTGCCCGTGACCCCTCAGAAAGAATGGCTGCACATGGACACTGTCGAGCTGGAGAAGCTCCACTGGACCCAGGACTTGCCCCCTGTCCGGCGGCAGCAG
ACACAGGAGAGGATGCAGGCTCGATTCAGTCTTCAGGGAGAACTACTGGCCCCTGACGTGGACCTGCCCACCCACCTGGGTCTGCACCACCATGGAGAGGAGGCA
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>RPAP1|26015|protein
MLSRPKPGESEVDLLHFQSQFLAAGAAPAVQLVKKGNRGGGDANSDRPPLQDHRDVVMLDNLPDLPPALVPSPPKRARPSPGHCLPEDEDPEERLRRHDQHITAV
LTKIIERDTSSVAVNLPVPSGVAFPAVFLRSRDTQGKSATSGKRSIFAQEIAARRIAEAKGPSVGEVVPNVGPPEGAVTCETPTPRNQGCQLPGSSHSFQGPNLV
TGKGLRDQEAEQEAQTIHEENIARLQAMAPEEILQEQQRLLAQLDPSLVAFLRSHSHTQEQTGETASEEQRPGGPSANVTKEEPLMSAFASEPRKRDKLEPEAPA
LALPVTPQKEWLHMDTVELEKLHWTQDLPPVRRQQTQERMQARFSLQGELLAPDVDLPTHLGLHHHGEEAERAGYSLQELFHLTRSQVSQQRALALHVLAQVISR
AQAGEFGDRLAGSVLSLLLDAGFLFLLRFSLDDRVDGVIATAIRALRALLVAPGDEELLDSTFSWYHGALTFPLMPSQEDKEDEDEDEECPAGKAKRKSPEEESR
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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 (1) 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
Linkage Studies Top