Evidence Details for POLR3E
Basic Information Top
| Gene Symbol: | POLR3E ( RPC5,SIN ) |
|---|---|
| Gene Full Name: | polymerase (RNA) III (DNA directed) polypeptide E (80kD) |
| Band: | 16p12.2 |
| Quick Links | Entrez ID:55718; OMIM: NA; Uniprot ID:RPC5_HUMAN; ENSEMBL ID: ENSG00000058600; HGNC ID: 30347 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>POLR3E|55718|nucleotide
ATGGCCAATGAAGAGGATGACCCAGTTGTACAGGAGATCGATGTGTACTTGGCCAAGAGTCTGGCGGAAAAGCTGTATCTATTTCAGTACCCTGTGCGTCCAGCC
TCGATGACCTACGATGACATTCCGCACCTCTCAGCCAAGATCAAGCCCAAGCAGCAGAAGGTAGAGCTTGAGATGGCCATCGACACCCTGAACCCCAACTATTGC
CGCAGCAAAGGGGAGCAGATTGCGCTGAACGTGGACGGGGCCTGCGCCGACGAGACCAGCACGTATTCCTCGAAGCTGATGGACAAGCAGACCTTCTGCTCTTCC
CAGACCACCAGTAACACATCCCGTTATGCCGCTGCACTCTACAGGCAAGGTGAGCTCCACCTGACACCTTTACATGGCATCCTGCAGCTGCGGCCCAGCTTCTCC
TACCTGGATAAGGCTGACGCCAAGCACCGGGAGAGGGAGGCGGCCAACGAGGCAGGGGACTCTTCACAGGATGAGGCGGAAGACGATGTTAAGCAGATCACGGTG
CGGTTCTCCCGGCCGGAGTCAGAGCAGGCCCGCCAGCGCCGTGTGCAGTCCTATGAGTTCCTGCAGAAGAAGCACGCAGAGGAGCCCTGGGTCCACCTGCATTAC
TATGGCCTGAGGGACAGTCGCTCTGAGCATGAGCGTCAGTACCTGCTGTGCCCCGGCTCAAGCGGGGTGGAGAACACGGAGCTCGTCAAGTCACCCAGTGAGTAC
CTGATGATGCTGATGCCACCCAGCCAGGAGGAGGAGAAAGACAAGCCTGTGGCCCCCAGCAACGTCCTGTCGATGGCCCAGCTGCGCACGCTGCCCCTGGCCGAT
CAGATCAAGATCCTGATGAAGAATGTGAAGGTCATGCCTTTTGCCAACTTGATGAGCCTCCTGGGCCCCTCCATCGATTCCGTGGCTGTTCTGCGGGGCATCCAG
AAGGTGGCGATGTTGGTCCAAGGGAACTGGGTGGTGAAGAGTGACATCCTATACCCCAAGGACTCGTCCAGCCCTCACAGCGGCGTGCCTGCTGAGGTGCTCTGC
AGGGGCCGAGACTTCGTTATGTGGAAGTTCACGCAGAGCCGCTGGGTGGTTAGGAAAGAGGTGGCAACCGTGACCAAACTCTGCGCCGAGGATGTGAAGGACTTC
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ATGGCCAATGAAGAGGATGACCCAGTTGTACAGGAGATCGATGTGTACTTGGCCAAGAGTCTGGCGGAAAAGCTGTATCTATTTCAGTACCCTGTGCGTCCAGCC
TCGATGACCTACGATGACATTCCGCACCTCTCAGCCAAGATCAAGCCCAAGCAGCAGAAGGTAGAGCTTGAGATGGCCATCGACACCCTGAACCCCAACTATTGC
CGCAGCAAAGGGGAGCAGATTGCGCTGAACGTGGACGGGGCCTGCGCCGACGAGACCAGCACGTATTCCTCGAAGCTGATGGACAAGCAGACCTTCTGCTCTTCC
CAGACCACCAGTAACACATCCCGTTATGCCGCTGCACTCTACAGGCAAGGTGAGCTCCACCTGACACCTTTACATGGCATCCTGCAGCTGCGGCCCAGCTTCTCC
TACCTGGATAAGGCTGACGCCAAGCACCGGGAGAGGGAGGCGGCCAACGAGGCAGGGGACTCTTCACAGGATGAGGCGGAAGACGATGTTAAGCAGATCACGGTG
CGGTTCTCCCGGCCGGAGTCAGAGCAGGCCCGCCAGCGCCGTGTGCAGTCCTATGAGTTCCTGCAGAAGAAGCACGCAGAGGAGCCCTGGGTCCACCTGCATTAC
TATGGCCTGAGGGACAGTCGCTCTGAGCATGAGCGTCAGTACCTGCTGTGCCCCGGCTCAAGCGGGGTGGAGAACACGGAGCTCGTCAAGTCACCCAGTGAGTAC
CTGATGATGCTGATGCCACCCAGCCAGGAGGAGGAGAAAGACAAGCCTGTGGCCCCCAGCAACGTCCTGTCGATGGCCCAGCTGCGCACGCTGCCCCTGGCCGAT
CAGATCAAGATCCTGATGAAGAATGTGAAGGTCATGCCTTTTGCCAACTTGATGAGCCTCCTGGGCCCCTCCATCGATTCCGTGGCTGTTCTGCGGGGCATCCAG
AAGGTGGCGATGTTGGTCCAAGGGAACTGGGTGGTGAAGAGTGACATCCTATACCCCAAGGACTCGTCCAGCCCTCACAGCGGCGTGCCTGCTGAGGTGCTCTGC
AGGGGCCGAGACTTCGTTATGTGGAAGTTCACGCAGAGCCGCTGGGTGGTTAGGAAAGAGGTGGCAACCGTGACCAAACTCTGCGCCGAGGATGTGAAGGACTTC
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>POLR3E|55718|protein
MANEEDDPVVQEIDVYLAKSLAEKLYLFQYPVRPASMTYDDIPHLSAKIKPKQQKVELEMAIDTLNPNYCRSKGEQIALNVDGACADETSTYSSKLMDKQTFCSS
QTTSNTSRYAAALYRQGELHLTPLHGILQLRPSFSYLDKADAKHREREAANEAGDSSQDEAEDDVKQITVRFSRPESEQARQRRVQSYEFLQKKHAEEPWVHLHY
YGLRDSRSEHERQYLLCPGSSGVENTELVKSPSEYLMMLMPPSQEEEKDKPVAPSNVLSMAQLRTLPLADQIKILMKNVKVMPFANLMSLLGPSIDSVAVLRGIQ
KVAMLVQGNWVVKSDILYPKDSSSPHSGVPAEVLCRGRDFVMWKFTQSRWVVRKEVATVTKLCAEDVKDFLEHMAVVRINKGWEFILPYDGEFIKKHPDVVQRQH
MLWTGIQAKLEKVYNLVKETMPKKPDAQSGPAGLVCGDQRIQVAKTKAQQNHALLERELQRRKEQLRVPAVPPGVRIKEEPVSEEGEEDEEQEAEEEPMDTSPSG
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MANEEDDPVVQEIDVYLAKSLAEKLYLFQYPVRPASMTYDDIPHLSAKIKPKQQKVELEMAIDTLNPNYCRSKGEQIALNVDGACADETSTYSSKLMDKQTFCSS
QTTSNTSRYAAALYRQGELHLTPLHGILQLRPSFSYLDKADAKHREREAANEAGDSSQDEAEDDVKQITVRFSRPESEQARQRRVQSYEFLQKKHAEEPWVHLHY
YGLRDSRSEHERQYLLCPGSSGVENTELVKSPSEYLMMLMPPSQEEEKDKPVAPSNVLSMAQLRTLPLADQIKILMKNVKVMPFANLMSLLGPSIDSVAVLRGIQ
KVAMLVQGNWVVKSDILYPKDSSSPHSGVPAEVLCRGRDFVMWKFTQSRWVVRKEVATVTKLCAEDVKDFLEHMAVVRINKGWEFILPYDGEFIKKHPDVVQRQH
MLWTGIQAKLEKVYNLVKETMPKKPDAQSGPAGLVCGDQRIQVAKTKAQQNHALLERELQRRKEQLRVPAVPPGVRIKEEPVSEEGEEDEEQEAEEEPMDTSPSG
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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) | 0 (4) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (6) |
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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top