Evidence Details for CYB5R3
Basic Information Top
| Gene Symbol: | CYB5R3 ( B5R,DIA1 ) |
|---|---|
| Gene Full Name: | cytochrome b5 reductase 3 |
| Band: | 22q13.2 |
| Quick Links | Entrez ID:1727; OMIM: 613213; Uniprot ID:NB5R3_HUMAN; ENSEMBL ID: ENSG00000100243; HGNC ID: 2873 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CYB5R3|1727|nucleotide
ATGGGGGCCCAGCTCAGCACGTTGGGCCATATGGTGCTCTTCCCAGTCTGGTTCCTGTACAGTCTGCTCATGAAGCTGTTCCAGCGCTCCACGCCAGCCATCACC
CTCGAGAGCCCGGACATCAAGTACCCGCTGCGGCTCATCGACCGGGAGATCATCAGCCATGACACCCGGCGCTTCCGCTTTGCCCTGCCGTCACCCCAGCACATC
CTGGGCCTCCCTGTCGGCCAGCACATCTACCTCTCGGCTCGAATTGATGGAAACCTGGTCGTCCGGCCCTATACACCCATCTCCAGCGATGATGACAAGGGCTTC
GTGGACCTGGTCATCAAGGTTTACTTCAAGGACACCCATCCCAAGTTTCCCGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATGCAGATTGGAGACACCATT
GAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGGAAGTTCGCCATCCGACCTGACAAAAAGTCCAACCCTATCATCAGGACAGTGAAGTCTGTG
GGCATGATCGCGGGAGGGACAGGCATCACCCCGATGCTGCAGGTGATCCGCGCCATCATGAAGGACCCTGATGACCACACTGTGTGCCACCTGCTCTTTGCCAAC
CAGACCGAGAAGGACATCCTGCTGCGACCTGAGCTGGAGGAACTCAGGAACAAACATTCTGCACGCTTCAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCC
TGGGACTACGGCCAGGGCTTCGTGAATGAGGAGATGATCCGGGACCACCTTCCACCCCCAGAGGAGGAGCCGCTGGTGCTGATGTGTGGCCCCCCACCCATGATC
CAGTACGCCTGCCTTCCCAACCTGGACCACGTGGGCCACCCCACGGAGCGCTGCTTCGTCTTCTGA
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ATGGGGGCCCAGCTCAGCACGTTGGGCCATATGGTGCTCTTCCCAGTCTGGTTCCTGTACAGTCTGCTCATGAAGCTGTTCCAGCGCTCCACGCCAGCCATCACC
CTCGAGAGCCCGGACATCAAGTACCCGCTGCGGCTCATCGACCGGGAGATCATCAGCCATGACACCCGGCGCTTCCGCTTTGCCCTGCCGTCACCCCAGCACATC
CTGGGCCTCCCTGTCGGCCAGCACATCTACCTCTCGGCTCGAATTGATGGAAACCTGGTCGTCCGGCCCTATACACCCATCTCCAGCGATGATGACAAGGGCTTC
GTGGACCTGGTCATCAAGGTTTACTTCAAGGACACCCATCCCAAGTTTCCCGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATGCAGATTGGAGACACCATT
GAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGGAAGTTCGCCATCCGACCTGACAAAAAGTCCAACCCTATCATCAGGACAGTGAAGTCTGTG
GGCATGATCGCGGGAGGGACAGGCATCACCCCGATGCTGCAGGTGATCCGCGCCATCATGAAGGACCCTGATGACCACACTGTGTGCCACCTGCTCTTTGCCAAC
CAGACCGAGAAGGACATCCTGCTGCGACCTGAGCTGGAGGAACTCAGGAACAAACATTCTGCACGCTTCAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCC
TGGGACTACGGCCAGGGCTTCGTGAATGAGGAGATGATCCGGGACCACCTTCCACCCCCAGAGGAGGAGCCGCTGGTGCTGATGTGTGGCCCCCCACCCATGATC
CAGTACGCCTGCCTTCCCAACCTGGACCACGTGGGCCACCCCACGGAGCGCTGCTTCGTCTTCTGA
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>CYB5R3|1727|protein
MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGF
VDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFAN
QTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF
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MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGF
VDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFAN
QTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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