Evidence Details for POLR3H
Basic Information Top
| Gene Symbol: | POLR3H ( KIAA1665,MGC111097,MGC29654,RPC22.9,RPC8 ) |
|---|---|
| Gene Full Name: | polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) |
| Band: | 22q13.2 |
| Quick Links | Entrez ID:171568; OMIM: NA; Uniprot ID:RPC8_HUMAN; ENSEMBL ID: ENSG00000100413; HGNC ID: 30349 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>POLR3H|171568|nucleotide
ATGTTCGTCCTGGTGGAAATGGTGGACACCGTCCGGATCCCCCCTTGGCAGTTTGAGAGGAAGCTCAACGACTCCATTGCCGAGGAGCTGAACAAGAAGTTGGCC
AACAAGGTCGTGTACAACGTGGGACTCTGCATTTGTCTGTTTGATATCACCAAACTGGAGGATGCCTATGTATTCCCTGGGGATGGCGCATCACACACCAAAGTC
CATTTTCGCTGCGTGGTGTTTCATCCATTCCTAGATGAGATTCTCATTGGGAAGATCAAAGGCTGCAGCCCAGAAGGAGTGCACGTCTCTCTAGGCTTCTTCGAT
GACATTCTCATCCCCCCAGAGTCACTGCAGCAGCCAGCCAAGTTCGACGAAGCGGAGCAGGTGTGGGTGTGGGAGTACGAGACGGAGGAAGGAGCACACGACCTC
TACATGGACACCGGCGAGGAGATCCGCTTCCGGGTGGTGGACGAGAGCTTTGTTGACACGTCCCCCACAGGGCCCAGCTCAGCAGATGCCACCACTTCCAGTGAG
GAGCTGCCAAAGAAGGAGGCTCCGTACACGCTTGTGGGATCCATCAGTGAGCCAGGCCTGGGCCTTCTCTCCTGGTGGACCAGCAACTAG
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ATGTTCGTCCTGGTGGAAATGGTGGACACCGTCCGGATCCCCCCTTGGCAGTTTGAGAGGAAGCTCAACGACTCCATTGCCGAGGAGCTGAACAAGAAGTTGGCC
AACAAGGTCGTGTACAACGTGGGACTCTGCATTTGTCTGTTTGATATCACCAAACTGGAGGATGCCTATGTATTCCCTGGGGATGGCGCATCACACACCAAAGTC
CATTTTCGCTGCGTGGTGTTTCATCCATTCCTAGATGAGATTCTCATTGGGAAGATCAAAGGCTGCAGCCCAGAAGGAGTGCACGTCTCTCTAGGCTTCTTCGAT
GACATTCTCATCCCCCCAGAGTCACTGCAGCAGCCAGCCAAGTTCGACGAAGCGGAGCAGGTGTGGGTGTGGGAGTACGAGACGGAGGAAGGAGCACACGACCTC
TACATGGACACCGGCGAGGAGATCCGCTTCCGGGTGGTGGACGAGAGCTTTGTTGACACGTCCCCCACAGGGCCCAGCTCAGCAGATGCCACCACTTCCAGTGAG
GAGCTGCCAAAGAAGGAGGCTCCGTACACGCTTGTGGGATCCATCAGTGAGCCAGGCCTGGGCCTTCTCTCCTGGTGGACCAGCAACTAG
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>POLR3H|171568|protein
MFVLVEMVDTVRIPPWQFERKLNDSIAEELNKKLANKVVYNVGLCICLFDITKLEDAYVFPGDGASHTKVHFRCVVFHPFLDEILIGKIKGCSPEGVHVSLGFFD
DILIPPESLQQPAKFDEAEQVWVWEYETEEGAHDLYMDTGEEIRFRVVDESFVDTSPTGPSSADATTSSEELPKKEAPYTLVGSISEPGLGLLSWWTSN
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MFVLVEMVDTVRIPPWQFERKLNDSIAEELNKKLANKVVYNVGLCICLFDITKLEDAYVFPGDGASHTKVHFRCVVFHPFLDEILIGKIKGCSPEGVHVSLGFFD
DILIPPESLQQPAKFDEAEQVWVWEYETEEGAHDLYMDTGEEIRFRVVDESFVDTSPTGPSSADATTSSEELPKKEAPYTLVGSISEPGLGLLSWWTSN
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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) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top