AutismKB 2.0

Evidence Details for POLR1E


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Basic Information Top
Gene Symbol:POLR1E ( FLJ13390,FLJ13970,PAF53,PRAF1,RP11-405L18.3 )
Gene Full Name: polymerase (RNA) I polypeptide E, 53kDa
Band: 9p13.2
Quick LinksEntrez ID:64425; OMIM: NA; Uniprot ID:RPA49_HUMAN; ENSEMBL ID: ENSG00000137054; HGNC ID: 17631
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLR1E|64425|nucleotide
ATGGCGGCGGAGGTGTTGCCGAGTGCGAGGTGGCAGTATTGTGGGGCGCCCGACGGGAGCCAGAGAGCTGTACTGGTCCAGTTCTCCAACGGGAAGCTACAGAGT
CCAGGCAACATGCGCTTTACCTTGTATGAGAACAAAGATTCCACCAACCCCAGGAAGAGGAATCAACGGATCCTGGCAGCTGAAACAGATAGGCTCTCCTATGTG
GGAAACAATTTTGGGACTGGAGCCCTCAAATGCAACACTTTGTGCAGGCACTTTGTGGGAATTTTGAACAAGACCTCTGGCCAAATGGAAGTATATGATGCTGAA
TTGTTCAACATGCAGCCACTATTTTCAGATGTATCAGTTGAGAGTGAACTGGCGCTAGAGAGTCAGACCAAAACTTACAGAGAAAAGATGGATTCTTGTATTGAA
GCCTTTGGTACCACCAAACAGAAGCGAGCTCTGAACACCAGGAGAATGAACAGAGTTGGCAATGAATCTTTGAATCGTGCAGTGGCTAAAGCTGCAGAGACTATC
ATTGATACGAAGGGTGTGACTGCTCTGGTCAGCGATGCTATCCACAATGACTTGCAAGATGACTCCCTCTACCTTCCTCCCTGCTATGATGATGCAGCCAAGCCT
GAAGACGTGTATAAATTTGAAGATCTTCTTTCCCCTGCGGAGTATGAAGCTCTTCAGAGCCCATCTGAAGCTTTCAGGAACGTCACGTCAGAAGAAATACTGAAG
ATGATTGAGGAGAACAGCCATTGCACCTTTGTCATAGAAGCGTTGAAGTCTTTGCCATCAGATGTGGAGAGCCGAGACCGCCAGGCCCGATGCATATGGTTTCTG
GATACCCTCATCAAATTTCGAGCTCATAGGGTAGTTAAGCGGAAAAGTGCTCTGGGACCTGGAGTTCCCCACATCATCAACACCAAACTGCTGAAGCACTTTACT
TGCTTGACCTACAACAATGGCAGATTACGGAACTTAATTTCGGATTCTATGAAGGCGAAGATTACTGCATATGTGATCATACTTGCCTTGCACATACATGACTTC
CAAATTGACCTGACAGTGTTACAGAGGGACTTGAAGCTCAGTGAGAAAAGGATGATGGAGATAGCCAAAGCCATGAGGCTGAAGATCTCCAAAAGAAGGGTGTCT
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>POLR1E|64425|protein
MAAEVLPSARWQYCGAPDGSQRAVLVQFSNGKLQSPGNMRFTLYENKDSTNPRKRNQRILAAETDRLSYVGNNFGTGALKCNTLCRHFVGILNKTSGQMEVYDAE
LFNMQPLFSDVSVESELALESQTKTYREKMDSCIEAFGTTKQKRALNTRRMNRVGNESLNRAVAKAAETIIDTKGVTALVSDAIHNDLQDDSLYLPPCYDDAAKP
EDVYKFEDLLSPAEYEALQSPSEAFRNVTSEEILKMIEENSHCTFVIEALKSLPSDVESRDRQARCIWFLDTLIKFRAHRVVKRKSALGPGVPHIINTKLLKHFT
CLTYNNGRLRNLISDSMKAKITAYVIILALHIHDFQIDLTVLQRDLKLSEKRMMEIAKAMRLKISKRRVSVAAGSEEDHKLGTLSLPLPPAQTSDRLAKRRKIT

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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top