Evidence Details for RPRD1A
Basic Information Top
| Gene Symbol: | RPRD1A ( FLJ10656,HsT3101,MGC19513,P15RS ) |
|---|---|
| Gene Full Name: | regulation of nuclear pre-mRNA domain containing 1A |
| Band: | 18q12.2 |
| Quick Links | Entrez ID:55197; OMIM: 610347; Uniprot ID:RPR1A_HUMAN; ENSEMBL ID: ENSG00000141425; HGNC ID: 25560 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RPRD1A|55197|nucleotide
ATGTCAGCCTTCTCTGAGGCGGCGCTGGAGAAGAAGCTGTCGGAGTTGAGCAACTCGCAGCAGAGCGTGCAGACCTTGTCCCTGTGGCTCATTCACCACCGTAAA
CACTCGCGGCCCATCGTCACCGTGTGGGAGCGGGAGCTGCGGAAAGCCAAACCAAACAGGAAGCTTACTTTTCTCTACCTAGCCAATGATGTCATACAGAACAGC
AAGAGGAAGGGGCCAGAGTTTACAAAAGATTTTGCACCAGTTATAGTGGAGGCTTTTAAGCATGTTTCAAGTGAAACTGATGAAAGTTGTAAGAAGCACCTTGGA
AGAGTGTTATCTATTTGGGAAGAAAGGTCTGTTTATGAAAATGATGTATTAGAACAACTTAAACAAGCTCTGTATGGTGATAAGAAGCCTAGGAAGCGAACTTAT
GAACAGATAAAGGTGGATGAAAATGAAAACTGTTCCTCTCTGGGATCTCCAAGTGAACCACCACAGACTCTAGATCTCGTTAGAGCATTACAAGATCTGGAAAAT
GCAGCCTCAGGTGATGCAGCAGTTCATCAGAGGATAGCTTCTTTACCTGTTGAAGTCCAAGAAGTATCTCTATTAGATAAAATAACAGATAAAGAATCTGGAGAA
AGGCTTTCCAAAATGGTAGAGGATGCGTGTATGTTGCTGGCAGATTACAATGGCAGATTGGCGGCAGAAATAGATGATAGAAAGCAACTCACTCGAATGTTAGCA
GATTTTCTTCGTTGTCAAAAGGAAGCCCTTGCAGAGAAAGAGCATAAATTGGAAGAGTACAAGCGCAAGCTAGCCAGAGTTTCCCTGGTGCGCAAAGAACTCAGG
TCCCGGATCCAGAGCCTGCCAGACTTATCTCGATTGCCCAATGTCACTGGCAGCCACATGCACCTGCCCTTTGCGGGAGACATCTACAGTGAAGATTGA
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ATGTCAGCCTTCTCTGAGGCGGCGCTGGAGAAGAAGCTGTCGGAGTTGAGCAACTCGCAGCAGAGCGTGCAGACCTTGTCCCTGTGGCTCATTCACCACCGTAAA
CACTCGCGGCCCATCGTCACCGTGTGGGAGCGGGAGCTGCGGAAAGCCAAACCAAACAGGAAGCTTACTTTTCTCTACCTAGCCAATGATGTCATACAGAACAGC
AAGAGGAAGGGGCCAGAGTTTACAAAAGATTTTGCACCAGTTATAGTGGAGGCTTTTAAGCATGTTTCAAGTGAAACTGATGAAAGTTGTAAGAAGCACCTTGGA
AGAGTGTTATCTATTTGGGAAGAAAGGTCTGTTTATGAAAATGATGTATTAGAACAACTTAAACAAGCTCTGTATGGTGATAAGAAGCCTAGGAAGCGAACTTAT
GAACAGATAAAGGTGGATGAAAATGAAAACTGTTCCTCTCTGGGATCTCCAAGTGAACCACCACAGACTCTAGATCTCGTTAGAGCATTACAAGATCTGGAAAAT
GCAGCCTCAGGTGATGCAGCAGTTCATCAGAGGATAGCTTCTTTACCTGTTGAAGTCCAAGAAGTATCTCTATTAGATAAAATAACAGATAAAGAATCTGGAGAA
AGGCTTTCCAAAATGGTAGAGGATGCGTGTATGTTGCTGGCAGATTACAATGGCAGATTGGCGGCAGAAATAGATGATAGAAAGCAACTCACTCGAATGTTAGCA
GATTTTCTTCGTTGTCAAAAGGAAGCCCTTGCAGAGAAAGAGCATAAATTGGAAGAGTACAAGCGCAAGCTAGCCAGAGTTTCCCTGGTGCGCAAAGAACTCAGG
TCCCGGATCCAGAGCCTGCCAGACTTATCTCGATTGCCCAATGTCACTGGCAGCCACATGCACCTGCCCTTTGCGGGAGACATCTACAGTGAAGATTGA
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>RPRD1A|55197|protein
MSAFSEAALEKKLSELSNSQQSVQTLSLWLIHHRKHSRPIVTVWERELRKAKPNRKLTFLYLANDVIQNSKRKGPEFTKDFAPVIVEAFKHVSSETDESCKKHLG
RVLSIWEERSVYENDVLEQLKQALYGDKKPRKRTYEQIKVDENENCSSLGSPSEPPQTLDLVRALQDLENAASGDAAVHQRIASLPVEVQEVSLLDKITDKESGE
RLSKMVEDACMLLADYNGRLAAEIDDRKQLTRMLADFLRCQKEALAEKEHKLEEYKRKLARVSLVRKELRSRIQSLPDLSRLPNVTGSHMHLPFAGDIYSED
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MSAFSEAALEKKLSELSNSQQSVQTLSLWLIHHRKHSRPIVTVWERELRKAKPNRKLTFLYLANDVIQNSKRKGPEFTKDFAPVIVEAFKHVSSETDESCKKHLG
RVLSIWEERSVYENDVLEQLKQALYGDKKPRKRTYEQIKVDENENCSSLGSPSEPPQTLDLVRALQDLENAASGDAAVHQRIASLPVEVQEVSLLDKITDKESGE
RLSKMVEDACMLLADYNGRLAAEIDDRKQLTRMLADFLRCQKEALAEKEHKLEEYKRKLARVSLVRKELRSRIQSLPDLSRLPNVTGSHMHLPFAGDIYSED
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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 (1) | 1 (1) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 12 (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 | ||||||
| Gilling, 2008 | Denmark | aCGH |  | | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top