Evidence Details for POLR2F


Gene Symbol: | POLR2F ( HRBP14.4,POLRF,RPABC2,RPB14.4,RPB6 ) |
---|---|
Gene Full Name: | polymerase (RNA) II (DNA directed) polypeptide F |
Band: | 22q13.1 |
Quick Links | Entrez ID:5435; OMIM: 604414; Uniprot ID:RPAB2_HUMAN; ENSEMBL ID: ENSG00000100142; HGNC ID: 9193 |
Relate to Another Database: | SFARIGene; denovo-db |


>POLR2F|5435|nucleotide
ATGTCAGACAACGAGGACAATTTTGATGGCGACGACTTTGATGATGTGGAGGAGGATGAAGGGCTAGATGACTTGGAGAATGCCGAAGAGGAAGGCCAGGAGAAT
GTCGAGATCCTCCCCTCTGGGGAGCGACCGCAGGCCAACCAGAAGCGAATCACCACACCATACATGACCAAGTACGAGCGAGCCCGCGTGCTGGGCACCCGAGCG
CTCCAGATTGCGATGTGTGCCCCTGTGATGGTGGAGCTGGAGGGGGAGACAGATCCTCTGCTCATTGCCATGAAGGAACTCAAGGCCCGAAAGATCCCCATCATC
ATTCGCCGTTACCTGCCAGATGGGAGCTATGAAGACTGGGGGGTGGACGAGCTCATCATCACCGACTGA
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ATGTCAGACAACGAGGACAATTTTGATGGCGACGACTTTGATGATGTGGAGGAGGATGAAGGGCTAGATGACTTGGAGAATGCCGAAGAGGAAGGCCAGGAGAAT
GTCGAGATCCTCCCCTCTGGGGAGCGACCGCAGGCCAACCAGAAGCGAATCACCACACCATACATGACCAAGTACGAGCGAGCCCGCGTGCTGGGCACCCGAGCG
CTCCAGATTGCGATGTGTGCCCCTGTGATGGTGGAGCTGGAGGGGGAGACAGATCCTCTGCTCATTGCCATGAAGGAACTCAAGGCCCGAAAGATCCCCATCATC
ATTCGCCGTTACCTGCCAGATGGGAGCTATGAAGACTGGGGGGTGGACGAGCTCATCATCACCGACTGA
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>POLR2F|5435|protein
MSDNEDNFDGDDFDDVEEDEGLDDLENAEEEGQENVEILPSGERPQANQKRITTPYMTKYERARVLGTRALQIAMCAPVMVELEGETDPLLIAMKELKARKIPII
IRRYLPDGSYEDWGVDELIITD
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MSDNEDNFDGDDFDDVEEDEGLDDLENAEEEGQENVEILPSGERPQANQKRITTPYMTKYERARVLGTRALQIAMCAPVMVELEGETDPLLIAMKELKARKIPII
IRRYLPDGSYEDWGVDELIITD
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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) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Prasad, 2000 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |














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