Evidence Details for RTDR1
Basic Information Top
| Gene Symbol: | RTDR1 ( MGC16968 ) |
|---|---|
| Gene Full Name: | rhabdoid tumor deletion region gene 1 |
| Band: | 22q11.2 |
| Quick Links | Entrez ID:27156; OMIM: 605663; Uniprot ID:RTDR1_HUMAN; ENSEMBL ID: ENSG00000100218; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RTDR1|27156|nucleotide
ATGGCCCATTCCCAGAACTCCTTGGAGCTTCCCATTAACATCAATGCCACCCAGATTACCACTGCCTATGGCCATCGGGCCCTGCCCAAGCTGAAGGAGGAGCTG
CAGTCAGAGGACCTCCAGACGAGGCAGAAAGCCCTCATGGCCTTGTGTGACCTCATGCATGACCCCGAGTGTATCTACAAGGCCATGAACATAGGCTGTATGGAG
AACCTGAAAGCTTTGCTGAAGGATAGCAACAGTATGGTGCGCATAAAGACCACCGAGGTGCTCCACATCACGGCAAGCCATAGCGTGGGCAGATACGCCTTTCTA
GAGCACGACATCGTCCTTGCCCTGTCCTTCCTGCTGAATGACCCCAGCCCAGTCTGCCGGGGGAACCTGTACAAGGCATACATGCAGCTGGTCCAGGTGCCTAGA
GGGGCCCAAGAGATCATCAGCAAAGGTCTGATTTCCTCACTGGTATGGAAGCTGCAGGTGGAGGTGGAGGAGGAGGAGTTCCAGGAGTTCATCCTGGACACACTG
GTCCTCTGCCTGCAGGAGGATGCCACCGAGGCCCTGGGCAGCAATGTGGTGCTTGTCCTGAAGCAGAAGCTCCTCAGCGCCAACCAGAACATCCGCAGCAAGGCC
GCCCGTGCGCTCCTTAATGTCAGCATATCTCGAGAGGGCAAGAAACAGGTGTGTCATTTTGACGTCATCCCCATCCTGGTCCATCTGCTGAAAGACCCAGTGGAG
CATGTGAAGTCTAACGCTGCCGGTGCCCTGATGTTCGCCACAGTGATCACTGAAGGGAAGTATGCGGCCCTGGAGGCACAAGCCATCGGCCTGCTCCTGGAGCTG
CTGCACTCCCCCATGACCATAGCGCGCCTGAATGCCACCAAGGCCCTTACCATGCTGGCAGAGGCCCCCGAGGGCCGCAAGGCCCTGCAGACGCACGTGCCCACT
TTCCGTGCCATGGAGGTGGAGACTTACGAAAAGCCTCAAGTGGCCGAAGCCTTACAGCGGGCAGCCCGGATCGCCATCAGTGTCATCGAGTTCAAACCCTGA
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ATGGCCCATTCCCAGAACTCCTTGGAGCTTCCCATTAACATCAATGCCACCCAGATTACCACTGCCTATGGCCATCGGGCCCTGCCCAAGCTGAAGGAGGAGCTG
CAGTCAGAGGACCTCCAGACGAGGCAGAAAGCCCTCATGGCCTTGTGTGACCTCATGCATGACCCCGAGTGTATCTACAAGGCCATGAACATAGGCTGTATGGAG
AACCTGAAAGCTTTGCTGAAGGATAGCAACAGTATGGTGCGCATAAAGACCACCGAGGTGCTCCACATCACGGCAAGCCATAGCGTGGGCAGATACGCCTTTCTA
GAGCACGACATCGTCCTTGCCCTGTCCTTCCTGCTGAATGACCCCAGCCCAGTCTGCCGGGGGAACCTGTACAAGGCATACATGCAGCTGGTCCAGGTGCCTAGA
GGGGCCCAAGAGATCATCAGCAAAGGTCTGATTTCCTCACTGGTATGGAAGCTGCAGGTGGAGGTGGAGGAGGAGGAGTTCCAGGAGTTCATCCTGGACACACTG
GTCCTCTGCCTGCAGGAGGATGCCACCGAGGCCCTGGGCAGCAATGTGGTGCTTGTCCTGAAGCAGAAGCTCCTCAGCGCCAACCAGAACATCCGCAGCAAGGCC
GCCCGTGCGCTCCTTAATGTCAGCATATCTCGAGAGGGCAAGAAACAGGTGTGTCATTTTGACGTCATCCCCATCCTGGTCCATCTGCTGAAAGACCCAGTGGAG
CATGTGAAGTCTAACGCTGCCGGTGCCCTGATGTTCGCCACAGTGATCACTGAAGGGAAGTATGCGGCCCTGGAGGCACAAGCCATCGGCCTGCTCCTGGAGCTG
CTGCACTCCCCCATGACCATAGCGCGCCTGAATGCCACCAAGGCCCTTACCATGCTGGCAGAGGCCCCCGAGGGCCGCAAGGCCCTGCAGACGCACGTGCCCACT
TTCCGTGCCATGGAGGTGGAGACTTACGAAAAGCCTCAAGTGGCCGAAGCCTTACAGCGGGCAGCCCGGATCGCCATCAGTGTCATCGAGTTCAAACCCTGA
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>RTDR1|27156|protein
MAHSQNSLELPININATQITTAYGHRALPKLKEELQSEDLQTRQKALMALCDLMHDPECIYKAMNIGCMENLKALLKDSNSMVRIKTTEVLHITASHSVGRYAFL
EHDIVLALSFLLNDPSPVCRGNLYKAYMQLVQVPRGAQEIISKGLISSLVWKLQVEVEEEEFQEFILDTLVLCLQEDATEALGSNVVLVLKQKLLSANQNIRSKA
ARALLNVSISREGKKQVCHFDVIPILVHLLKDPVEHVKSNAAGALMFATVITEGKYAALEAQAIGLLLELLHSPMTIARLNATKALTMLAEAPEGRKALQTHVPT
FRAMEVETYEKPQVAEALQRAARIAISVIEFKP
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MAHSQNSLELPININATQITTAYGHRALPKLKEELQSEDLQTRQKALMALCDLMHDPECIYKAMNIGCMENLKALLKDSNSMVRIKTTEVLHITASHSVGRYAFL
EHDIVLALSFLLNDPSPVCRGNLYKAYMQLVQVPRGAQEIISKGLISSLVWKLQVEVEEEEFQEFILDTLVLCLQEDATEALGSNVVLVLKQKLLSANQNIRSKA
ARALLNVSISREGKKQVCHFDVIPILVHLLKDPVEHVKSNAAGALMFATVITEGKYAALEAQAIGLLLELLHSPMTIARLNATKALTMLAEAPEGRKALQTHVPT
FRAMEVETYEKPQVAEALQRAARIAISVIEFKP
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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 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
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 | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top