Evidence Details for POLR1C
Basic Information Top
| Gene Symbol: | POLR1C ( RPA39,RPA40,RPA5,RPAC1 ) |
|---|---|
| Gene Full Name: | polymerase (RNA) I polypeptide C, 30kDa |
| Band: | 6p21.1 |
| Quick Links | Entrez ID:9533; OMIM: 610060; Uniprot ID:RPAC1_HUMAN; ENSEMBL ID: ENSG00000171453; HGNC ID: 20194 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>POLR1C|9533|nucleotide
ATGGCGGCTTCTCAGGCGGTGGAGGAAATGCGGAGCCGCGTGGTTCTGGGGGAGTTTGGGGTTCGCAATGTCCATACTACTGACTTTCCCGGTAACTATTCCGGT
TATGATGATGCCTGGGACCAGGACCGCTTCGAGAAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCA
GCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATT
CTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTT
CGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGTGTATACCAGGCATATGACATGG
ATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTG
CTCATGCACTGTGTCAAGGGCATTGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTG
GAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTG
GATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTAAGAAAGATTTGCTGGCTGCG
GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGAGTGGATCACGGGGTCAAGAGAGCGAGACCATCCTGGCTAA
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ATGGCGGCTTCTCAGGCGGTGGAGGAAATGCGGAGCCGCGTGGTTCTGGGGGAGTTTGGGGTTCGCAATGTCCATACTACTGACTTTCCCGGTAACTATTCCGGT
TATGATGATGCCTGGGACCAGGACCGCTTCGAGAAGAATTTCCGTGTGGATGTAGTACACATGGATGAAAACTCACTGGAGTTTGACATGGTGGGAATTGACGCA
GCCATTGCCAATGCTTTTCGACGAATTCTGCTAGCTGAGGTGCCAACTATGGCTGTGGAGAAGGTCCTGGTGTACAATAATACATCCATTGTTCAGGATGAGATT
CTTGCTCACCGTCTGGGGCTCATTCCCATTCATGCTGATCCCCGTCTTTTTGAGTATCGGAACCAAGGAGATGAAGAAGGCACAGAGATAGATACTCTACAGTTT
CGTCTCCAGGTCAGATGCACTCGGAACCCCCATGCTGCTAAAGATTCCTCTGACCCCAACGAACTGTACGTGAACCACAAAGTGTATACCAGGCATATGACATGG
ATCCCCCTGGGGAACCAGGCTGATCTCTTTCCAGAGGGCACTATCCGACCAGTGCATGATGATATCCTCATCGCTCAGCTGCGGCCTGGCCAAGAAATTGACCTG
CTCATGCACTGTGTCAAGGGCATTGGCAAAGATCATGCCAAGTTTTCACCAGTGGCAACAGCCAGTTACAGGCTCCTGCCAGACATCACCCTGCTTGAGCCCGTG
GAAGGGGAGGCAGCTGAGGAGTTGAGCAGGTGCTTCTCACCTGGTGTTATTGAGGTGCAGGAAGTCCAAGGTAAAAAGGTGGCCAGAGTTGCCAACCCCCGGCTG
GATACCTTCAGCAGAGAAATCTTCCGGAATGAGAAGCTAAAGAAGGTTGTGAGGCTTGCCCGGGTTCGAGATCATTATATCTGTAAGAAAGATTTGCTGGCTGCG
GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGAGTGGATCACGGGGTCAAGAGAGCGAGACCATCCTGGCTAA
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>POLR1C|9533|protein
MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRILLAEVPTMAVEKVLVYNNTSIVQDEI
LAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPNELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDL
LMHCVKGIGKDHAKFSPVATASYRLLPDITLLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYICKKDLLAA
VAHTCNPSTLGGQGEWITGSRERDHPG
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MAASQAVEEMRSRVVLGEFGVRNVHTTDFPGNYSGYDDAWDQDRFEKNFRVDVVHMDENSLEFDMVGIDAAIANAFRRILLAEVPTMAVEKVLVYNNTSIVQDEI
LAHRLGLIPIHADPRLFEYRNQGDEEGTEIDTLQFRLQVRCTRNPHAAKDSSDPNELYVNHKVYTRHMTWIPLGNQADLFPEGTIRPVHDDILIAQLRPGQEIDL
LMHCVKGIGKDHAKFSPVATASYRLLPDITLLEPVEGEAAEELSRCFSPGVIEVQEVQGKKVARVANPRLDTFSREIFRNEKLKKVVRLARVRDHYICKKDLLAA
VAHTCNPSTLGGQGEWITGSRERDHPG
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top