AutismKB 2.0

Evidence Details for POLR2F


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Basic Information Top
Gene Symbol:POLR2F ( HRBP14.4,POLRF,RPABC2,RPB14.4,RPB6 )
Gene Full Name: polymerase (RNA) II (DNA directed) polypeptide F
Band: 22q13.1
Quick LinksEntrez ID:5435; OMIM: 604414; Uniprot ID:RPAB2_HUMAN; ENSEMBL ID: ENSG00000100142; HGNC ID: 9193
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLR2F|5435|nucleotide
ATGTCAGACAACGAGGACAATTTTGATGGCGACGACTTTGATGATGTGGAGGAGGATGAAGGGCTAGATGACTTGGAGAATGCCGAAGAGGAAGGCCAGGAGAAT
GTCGAGATCCTCCCCTCTGGGGAGCGACCGCAGGCCAACCAGAAGCGAATCACCACACCATACATGACCAAGTACGAGCGAGCCCGCGTGCTGGGCACCCGAGCG
CTCCAGATTGCGATGTGTGCCCCTGTGATGGTGGAGCTGGAGGGGGAGACAGATCCTCTGCTCATTGCCATGAAGGAACTCAAGGCCCGAAAGATCCCCATCATC
ATTCGCCGTTACCTGCCAGATGGGAGCTATGAAGACTGGGGGGTGGACGAGCTCATCATCACCGACTGA







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>POLR2F|5435|protein
MSDNEDNFDGDDFDDVEEDEGLDDLENAEEEGQENVEILPSGERPQANQKRITTPYMTKYERARVLGTRALQIAMCAPVMVELEGETDPLLIAMKELKARKIPII
IRRYLPDGSYEDWGVDELIITD



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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top