Evidence Details for GRXCR1
Basic Information Top
| Gene Symbol: | GRXCR1 ( DFNB25 ) |
|---|---|
| Gene Full Name: | glutaredoxin, cysteine rich 1 |
| Band: | 4p13 |
| Quick Links | Entrez ID:389207; OMIM: 613283; Uniprot ID:GRCR1_HUMAN; ENSEMBL ID: ENSG00000215203; HGNC ID: 31673 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GRXCR1|389207|nucleotide
ATGCTTAAAAGGGAGATGAAGCCAGAAAGTGACAGGCCACGGAAAGTCCGGTTTCGGATCGCGTCCTCTCACAGTGGGCGAGTTCTGAAGGAAGTGTATGAAGAT
GGGCAACCGTCAGGCTCTCTGGATTCTGAATGTGCCAGTATCTGTGGGATAGATGGACTAGGTGATTCCGATGGACAGCAGAATGGCCACATAGAGTCAGAAGGT
GATGAGAATGAGAATGACCAGGATAGCTTGCTGGTGTTAGCAAGGGCTGCCAGTGAGAAGGGTTTTGGTACAAGAAGAGTCAACATTTTAAGCAAAAATGGCACA
GTCAGAGGCGTCAAATACAAAGTGAGTGCTGGCCAGGCTCTATTTAACAATTTGACCAAAGTATTACAGCAACCATCAACTGATCTAGAATTTGACCGTGTAGTG
ATTTATACCACCTGCCTTCGTGTGGTCCGGACAACCTTTGAAAGATGTGAACTGGTTAGAAAGATTTTCCAAAACCATCGCGTAAAATTTGAAGAGAAAAACATA
GCCCTGAATGGTGAATATGGAAAAGAGTTAGACGAACGATGCCGACGAGTTTCTGAAGCTCCTTCCCTCCCTGTTGTGTTCATTGATGGCCATTACCTTGGGGGT
GCTGAGAAAATTTTGTCAATGAATGAATCAGGAGAACTGCAAGACATCCTAACCAAAATTGAGAGAGTACAGCATCCACATGAGTGTCCCTCTTGTGGAGGCTTT
GGCTTTCTTCCATGCTCCGTGTGCCATGGGAGCAAGATGTCCATGTTTCGAAACTGCTTCACAGACTCTTTCAAAGCCCTGAAGTGTACGGCTTGCAATGAAAAT
GGTCTTCAGCGTTGTAAGAACTGTGCTGGTTAA
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ATGCTTAAAAGGGAGATGAAGCCAGAAAGTGACAGGCCACGGAAAGTCCGGTTTCGGATCGCGTCCTCTCACAGTGGGCGAGTTCTGAAGGAAGTGTATGAAGAT
GGGCAACCGTCAGGCTCTCTGGATTCTGAATGTGCCAGTATCTGTGGGATAGATGGACTAGGTGATTCCGATGGACAGCAGAATGGCCACATAGAGTCAGAAGGT
GATGAGAATGAGAATGACCAGGATAGCTTGCTGGTGTTAGCAAGGGCTGCCAGTGAGAAGGGTTTTGGTACAAGAAGAGTCAACATTTTAAGCAAAAATGGCACA
GTCAGAGGCGTCAAATACAAAGTGAGTGCTGGCCAGGCTCTATTTAACAATTTGACCAAAGTATTACAGCAACCATCAACTGATCTAGAATTTGACCGTGTAGTG
ATTTATACCACCTGCCTTCGTGTGGTCCGGACAACCTTTGAAAGATGTGAACTGGTTAGAAAGATTTTCCAAAACCATCGCGTAAAATTTGAAGAGAAAAACATA
GCCCTGAATGGTGAATATGGAAAAGAGTTAGACGAACGATGCCGACGAGTTTCTGAAGCTCCTTCCCTCCCTGTTGTGTTCATTGATGGCCATTACCTTGGGGGT
GCTGAGAAAATTTTGTCAATGAATGAATCAGGAGAACTGCAAGACATCCTAACCAAAATTGAGAGAGTACAGCATCCACATGAGTGTCCCTCTTGTGGAGGCTTT
GGCTTTCTTCCATGCTCCGTGTGCCATGGGAGCAAGATGTCCATGTTTCGAAACTGCTTCACAGACTCTTTCAAAGCCCTGAAGTGTACGGCTTGCAATGAAAAT
GGTCTTCAGCGTTGTAAGAACTGTGCTGGTTAA
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>GRXCR1|389207|protein
MLKREMKPESDRPRKVRFRIASSHSGRVLKEVYEDGQPSGSLDSECASICGIDGLGDSDGQQNGHIESEGDENENDQDSLLVLARAASEKGFGTRRVNILSKNGT
VRGVKYKVSAGQALFNNLTKVLQQPSTDLEFDRVVIYTTCLRVVRTTFERCELVRKIFQNHRVKFEEKNIALNGEYGKELDERCRRVSEAPSLPVVFIDGHYLGG
AEKILSMNESGELQDILTKIERVQHPHECPSCGGFGFLPCSVCHGSKMSMFRNCFTDSFKALKCTACNENGLQRCKNCAG
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MLKREMKPESDRPRKVRFRIASSHSGRVLKEVYEDGQPSGSLDSECASICGIDGLGDSDGQQNGHIESEGDENENDQDSLLVLARAASEKGFGTRRVNILSKNGT
VRGVKYKVSAGQALFNNLTKVLQQPSTDLEFDRVVIYTTCLRVVRTTFERCELVRKIFQNHRVKFEEKNIALNGEYGKELDERCRRVSEAPSLPVVFIDGHYLGG
AEKILSMNESGELQDILTKIERVQHPHECPSCGGFGFLPCSVCHGSKMSMFRNCFTDSFKALKCTACNENGLQRCKNCAG
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
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 | ||||||
| Sabaratnam, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top