Evidence Details for OXR1
Basic Information Top
| Gene Symbol: | OXR1 ( FLJ10125,FLJ38829,FLJ40849,FLJ41673,FLJ42450,FLJ45656 ) |
|---|---|
| Gene Full Name: | oxidation resistance 1 |
| Band: | 8q23.1 |
| Quick Links | Entrez ID:55074; OMIM: 605609; Uniprot ID:OXR1_HUMAN; ENSEMBL ID: ENSG00000164830; HGNC ID: 15822 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>OXR1|55074|nucleotide
ATGACGAAGGACAAAAACAGCCCAGGGCTGAAGAAAAAGTCCCAGTCGGTGGATATTAATGCTCCAGGGTTCAACCCTTTGGCTGGTGCAGGAAAGCAAACACCA
CAAGCCAGTAAGCCCCCGGCACCCAAGACCCCCATCATTGAAGAAGAGCAGAACAATGCAGCAAATACTCAGAAACATCCTTCCAGAAGGAGCGAACTGAAGAGG
TTCTACACAATTGACACTGGCCAAAAGAAGACCCTAGACAAGAAAGATGGAAGACGAATGTCTTTTCAGAAACCTAAAGGGACTATTGAGTATACTGTTGAATCA
AGGGATTCTTTGAATAGCATAGCCCTGAAGTTTGATACAACACCTAACGAACTTGTTCAATTAAATAAGTTATTCTCCCGAGCAGTTGTTACTGGACAGGTTCTG
TATGTTCCTGATCCTGAATATGTCTCCAGTGTTGAGAGCTCTCCATCTCTAAGCCCCGTAAGTCCTCTGTCACCAACATCATCTGAGGCTGAATTTGATAAGACC
ACTAATCCTGATGTCCATCCAACAGAAGCAACTCCCTCATCTACTTTCACTGGTATTCGACCTGCACGAGTTGTATCTTCAACTTCTGAGGAGGAGGAAGCATTT
ACTGAGAAATTTCTTAAAATTAATTGCAAATATATTACCAGTGGCAAGGGCACAGTCAGTGGTGTGCTGCTAGTTACACCAAATAATATAATGTTTGATCCACAT
AAAAATGACCCTTTGGTTCAAGAGAATGGCTGTGAGGAATATGGCATCATGTGTCCAATGGAAGAGGTGATGTCAGCTGCAATGTACAAAGAAATTTTGGATAGC
AAAATAAAGGAATCTTTACCCATAGATATAGATCAGCTATCAGGAAGGGACTTCTGCCATTCAAAGAAAATGACAGGAAGTAACACTGAGGAAATAGACTCAAGA
ATCCGAGATGCAGGTAATGATAGTGCCAGCACTGCTCCTAGGAGCACTGAGGAGTCTCTTTCTGAAGATGTGTTCACAGAATCAGAACTTTCCCCTATACGAGAG
GAGCTTGTATCTTCAGATGAACTGCGACAAGATAAATCTTCTGGTGCGTCATCAGAATCTGTGCAAACTGTCAATCAGGCTGAAGTAGAAAGTCTGACAGTCAAA
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ATGACGAAGGACAAAAACAGCCCAGGGCTGAAGAAAAAGTCCCAGTCGGTGGATATTAATGCTCCAGGGTTCAACCCTTTGGCTGGTGCAGGAAAGCAAACACCA
CAAGCCAGTAAGCCCCCGGCACCCAAGACCCCCATCATTGAAGAAGAGCAGAACAATGCAGCAAATACTCAGAAACATCCTTCCAGAAGGAGCGAACTGAAGAGG
TTCTACACAATTGACACTGGCCAAAAGAAGACCCTAGACAAGAAAGATGGAAGACGAATGTCTTTTCAGAAACCTAAAGGGACTATTGAGTATACTGTTGAATCA
AGGGATTCTTTGAATAGCATAGCCCTGAAGTTTGATACAACACCTAACGAACTTGTTCAATTAAATAAGTTATTCTCCCGAGCAGTTGTTACTGGACAGGTTCTG
TATGTTCCTGATCCTGAATATGTCTCCAGTGTTGAGAGCTCTCCATCTCTAAGCCCCGTAAGTCCTCTGTCACCAACATCATCTGAGGCTGAATTTGATAAGACC
ACTAATCCTGATGTCCATCCAACAGAAGCAACTCCCTCATCTACTTTCACTGGTATTCGACCTGCACGAGTTGTATCTTCAACTTCTGAGGAGGAGGAAGCATTT
ACTGAGAAATTTCTTAAAATTAATTGCAAATATATTACCAGTGGCAAGGGCACAGTCAGTGGTGTGCTGCTAGTTACACCAAATAATATAATGTTTGATCCACAT
AAAAATGACCCTTTGGTTCAAGAGAATGGCTGTGAGGAATATGGCATCATGTGTCCAATGGAAGAGGTGATGTCAGCTGCAATGTACAAAGAAATTTTGGATAGC
AAAATAAAGGAATCTTTACCCATAGATATAGATCAGCTATCAGGAAGGGACTTCTGCCATTCAAAGAAAATGACAGGAAGTAACACTGAGGAAATAGACTCAAGA
ATCCGAGATGCAGGTAATGATAGTGCCAGCACTGCTCCTAGGAGCACTGAGGAGTCTCTTTCTGAAGATGTGTTCACAGAATCAGAACTTTCCCCTATACGAGAG
GAGCTTGTATCTTCAGATGAACTGCGACAAGATAAATCTTCTGGTGCGTCATCAGAATCTGTGCAAACTGTCAATCAGGCTGAAGTAGAAAGTCTGACAGTCAAA
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>OXR1|55074|protein
MTKDKNSPGLKKKSQSVDINAPGFNPLAGAGKQTPQASKPPAPKTPIIEEEQNNAANTQKHPSRRSELKRFYTIDTGQKKTLDKKDGRRMSFQKPKGTIEYTVES
RDSLNSIALKFDTTPNELVQLNKLFSRAVVTGQVLYVPDPEYVSSVESSPSLSPVSPLSPTSSEAEFDKTTNPDVHPTEATPSSTFTGIRPARVVSSTSEEEEAF
TEKFLKINCKYITSGKGTVSGVLLVTPNNIMFDPHKNDPLVQENGCEEYGIMCPMEEVMSAAMYKEILDSKIKESLPIDIDQLSGRDFCHSKKMTGSNTEEIDSR
IRDAGNDSASTAPRSTEESLSEDVFTESELSPIREELVSSDELRQDKSSGASSESVQTVNQAEVESLTVKSESTGTPGHLRSDTEHSTNEVGTLCHKTDLNNLEM
AIKEDQIADNFQGISGPKEDSTSIKGNSDQDSFLHENSLHQEESQKENMPCGETAEFKQKQSVNKGKQGKEQNQDSQTEAEELRKLWKTHTMQQTKQQRENIQQV
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MTKDKNSPGLKKKSQSVDINAPGFNPLAGAGKQTPQASKPPAPKTPIIEEEQNNAANTQKHPSRRSELKRFYTIDTGQKKTLDKKDGRRMSFQKPKGTIEYTVES
RDSLNSIALKFDTTPNELVQLNKLFSRAVVTGQVLYVPDPEYVSSVESSPSLSPVSPLSPTSSEAEFDKTTNPDVHPTEATPSSTFTGIRPARVVSSTSEEEEAF
TEKFLKINCKYITSGKGTVSGVLLVTPNNIMFDPHKNDPLVQENGCEEYGIMCPMEEVMSAAMYKEILDSKIKESLPIDIDQLSGRDFCHSKKMTGSNTEEIDSR
IRDAGNDSASTAPRSTEESLSEDVFTESELSPIREELVSSDELRQDKSSGASSESVQTVNQAEVESLTVKSESTGTPGHLRSDTEHSTNEVGTLCHKTDLNNLEM
AIKEDQIADNFQGISGPKEDSTSIKGNSDQDSFLHENSLHQEESQKENMPCGETAEFKQKQSVNKGKQGKEQNQDSQTEAEELRKLWKTHTMQQTKQQRENIQQV
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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) | 0 (0) | 0 (0) | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 11 (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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.775518 | Down | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.