Evidence Details for POLR3D
Basic Information Top
| Gene Symbol: | POLR3D ( BN51T,RPC4,RPC53,TSBN51 ) |
|---|---|
| Gene Full Name: | polymerase (RNA) III (DNA directed) polypeptide D, 44kDa |
| Band: | 8p21.3 |
| Quick Links | Entrez ID:661; OMIM: 187280; Uniprot ID:RPC4_HUMAN; ENSEMBL ID: ENSG00000168495; HGNC ID: 1080 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>POLR3D|661|nucleotide
ATGTCGGAAGGAAACGCCGCCGGCGAGCCCAGCACGCCGGGAGGGCCCCGACCTCTCCTGACTGGGGCCCGGGGGCTCATCGGGCGGCGGCCGGCGCCTCCCCTC
ACCCCCGGCCGCCTTCCCTCCATCCGTTCCAGGGACCTCACCCTCGGGGGAGTCAAGAAGAAAACCTTCACCCCAAATATCATCAGTCGGAAGATCAAGGAAGAG
CCCAAGGAAGAAGTAACTGTCAAGAAGGAGAAGCGTGAAAGGGACAGAGACCGACAACGAGAGGGGCATGGACGAGGGCGAGGCCGTCCAGAAGTGATCCAGTCT
CACTCCATCTTTGAGCAGGGCCCAGCTGAAATGATGAAGAAAAAAGGGAACTGGGATAAGACAGTGGATGTGTCAGACATGGGACCTTCTCATATCATCAACATC
AAAAAAGAGAAGAGAGAGACAGACGAAGAAACTAAACAGATCTTGCGTATGCTGGAGAAGGACGATTTCCTCGATGACCCCGGCCTGAGGAACGACACTCGAAAT
ATGCCTGTGCAGCTGCCGCTGGCTCACTCAGGATGGCTTTTTAAGGAAGAAAATGACGAACCAGATGTTAAACCTTGGCTGGCTGGCCCCAAGGAAGAGGACATG
GAGGTGGACATACCTGCTGTGAAAGTGAAAGAGGAGCCACGAGATGAGGAGGAAGAGGCCAAGATGAAGGCTCCTCCCAAAGCAGCCAGGAAGACTCCAGGCCTC
CCGAAGGATGTATCTGTGGCAGAGCTGCTGAGGGAGCTGAGCCTCACCAAGGAAGAGGAACTGCTGTTTCTGCAGCTGCCAGACACCCTCCCTGGCCAGCCACCC
ACCCAGGACATCAAGCCTATCAAGACAGAGGTGCAGGGCGAGGACGGACAGGTGGTGCTCATCAAGCAGGAGAAAGACCGAGAAGCCAAATTGGCAGAGAATGCT
TGTACCCTGGCTGACCTGACAGAGGGTCAGGTTGGCAAGCTACTCATCCGCAAGTCTGGAAGGGTGCAACTCCTCTTGGGCAAGGTGACTCTGGACGTGACCATG
GGAACTGCCTGCTCCTTCCTGCAGGAGCTGGTGTCCGTGGGCCTTGGAGACAGTAGGACAGGGGAGATGACAGTCCTGGGACACGTGAAGCACAAACTTGTATGT
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ATGTCGGAAGGAAACGCCGCCGGCGAGCCCAGCACGCCGGGAGGGCCCCGACCTCTCCTGACTGGGGCCCGGGGGCTCATCGGGCGGCGGCCGGCGCCTCCCCTC
ACCCCCGGCCGCCTTCCCTCCATCCGTTCCAGGGACCTCACCCTCGGGGGAGTCAAGAAGAAAACCTTCACCCCAAATATCATCAGTCGGAAGATCAAGGAAGAG
CCCAAGGAAGAAGTAACTGTCAAGAAGGAGAAGCGTGAAAGGGACAGAGACCGACAACGAGAGGGGCATGGACGAGGGCGAGGCCGTCCAGAAGTGATCCAGTCT
CACTCCATCTTTGAGCAGGGCCCAGCTGAAATGATGAAGAAAAAAGGGAACTGGGATAAGACAGTGGATGTGTCAGACATGGGACCTTCTCATATCATCAACATC
AAAAAAGAGAAGAGAGAGACAGACGAAGAAACTAAACAGATCTTGCGTATGCTGGAGAAGGACGATTTCCTCGATGACCCCGGCCTGAGGAACGACACTCGAAAT
ATGCCTGTGCAGCTGCCGCTGGCTCACTCAGGATGGCTTTTTAAGGAAGAAAATGACGAACCAGATGTTAAACCTTGGCTGGCTGGCCCCAAGGAAGAGGACATG
GAGGTGGACATACCTGCTGTGAAAGTGAAAGAGGAGCCACGAGATGAGGAGGAAGAGGCCAAGATGAAGGCTCCTCCCAAAGCAGCCAGGAAGACTCCAGGCCTC
CCGAAGGATGTATCTGTGGCAGAGCTGCTGAGGGAGCTGAGCCTCACCAAGGAAGAGGAACTGCTGTTTCTGCAGCTGCCAGACACCCTCCCTGGCCAGCCACCC
ACCCAGGACATCAAGCCTATCAAGACAGAGGTGCAGGGCGAGGACGGACAGGTGGTGCTCATCAAGCAGGAGAAAGACCGAGAAGCCAAATTGGCAGAGAATGCT
TGTACCCTGGCTGACCTGACAGAGGGTCAGGTTGGCAAGCTACTCATCCGCAAGTCTGGAAGGGTGCAACTCCTCTTGGGCAAGGTGACTCTGGACGTGACCATG
GGAACTGCCTGCTCCTTCCTGCAGGAGCTGGTGTCCGTGGGCCTTGGAGACAGTAGGACAGGGGAGATGACAGTCCTGGGACACGTGAAGCACAAACTTGTATGT
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>POLR3D|661|protein
MSEGNAAGEPSTPGGPRPLLTGARGLIGRRPAPPLTPGRLPSIRSRDLTLGGVKKKTFTPNIISRKIKEEPKEEVTVKKEKRERDRDRQREGHGRGRGRPEVIQS
HSIFEQGPAEMMKKKGNWDKTVDVSDMGPSHIINIKKEKRETDEETKQILRMLEKDDFLDDPGLRNDTRNMPVQLPLAHSGWLFKEENDEPDVKPWLAGPKEEDM
EVDIPAVKVKEEPRDEEEEAKMKAPPKAARKTPGLPKDVSVAELLRELSLTKEEELLFLQLPDTLPGQPPTQDIKPIKTEVQGEDGQVVLIKQEKDREAKLAENA
CTLADLTEGQVGKLLIRKSGRVQLLLGKVTLDVTMGTACSFLQELVSVGLGDSRTGEMTVLGHVKHKLVCSPDFESLLDHKHR
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MSEGNAAGEPSTPGGPRPLLTGARGLIGRRPAPPLTPGRLPSIRSRDLTLGGVKKKTFTPNIISRKIKEEPKEEVTVKKEKRERDRDRQREGHGRGRGRPEVIQS
HSIFEQGPAEMMKKKGNWDKTVDVSDMGPSHIINIKKEKRETDEETKQILRMLEKDDFLDDPGLRNDTRNMPVQLPLAHSGWLFKEENDEPDVKPWLAGPKEEDM
EVDIPAVKVKEEPRDEEEEAKMKAPPKAARKTPGLPKDVSVAELLRELSLTKEEELLFLQLPDTLPGQPPTQDIKPIKTEVQGEDGQVVLIKQEKDREAKLAENA
CTLADLTEGQVGKLLIRKSGRVQLLLGKVTLDVTMGTACSFLQELVSVGLGDSRTGEMTVLGHVKHKLVCSPDFESLLDHKHR
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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 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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 | ||||||
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Ozgen, 2009 | - | aCGH, SNP microarray | | | ASD | 55 | - | - | - | - | - | - |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top