OXR1 (oxidation resistance 1) - Rat Genome Database

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Gene: OXR1 (oxidation resistance 1) Homo sapiens
Analyze
Symbol: OXR1
Name: oxidation resistance 1
RGD ID: 736990
HGNC Page HGNC
Description: Predicted to have oxidoreductase activity. Predicted to be involved in negative regulation of oxidative stress-induced neuron death and response to oxidative stress. Predicted to localize to nucleolus. Implicated in cerebellar hyplasia/atrophy, epilepsy, and global developmental delay; INTERACTS WITH (+)-catechin; 1-nitropyrene; 5-azacytidine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CHEGDD; FLJ10125; FLJ38829; FLJ40849; FLJ41673; FLJ42450; FLJ45656; Nbla00307; oxidation resistance protein 1; putative protein product of Nbla00307; TBC/LysM-associated domain containing 3; TLDC3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC084757.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8106,359,476 - 106,752,694 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8106,270,144 - 106,752,694 (+)EnsemblGRCh38hg38GRCh38
GRCh388106,270,178 - 106,752,694 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378107,282,406 - 107,764,922 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368107,739,270 - 107,834,097 (+)NCBINCBI36hg18NCBI36
Build 348107,739,269 - 107,832,861NCBI
Celera8103,469,771 - 103,951,905 (+)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8102,604,276 - 103,085,972 (+)NCBIHuRef
CHM1_18107,322,938 - 107,805,369 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrion  (IEA)
nucleolus  (IEA,ISO)
nucleus  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:11114193   PMID:12477932   PMID:12880961   PMID:14702039   PMID:15060142   PMID:15489334   PMID:16344560   PMID:17081983   PMID:17391516   PMID:17516841   PMID:20877624  
PMID:21873635   PMID:22863883   PMID:22873401   PMID:22990118   PMID:25236744   PMID:25416956   PMID:25792726   PMID:26496610   PMID:26616534   PMID:27432908   PMID:28700943   PMID:29766639  
PMID:30021884   PMID:30221705   PMID:30852977   PMID:31642482   PMID:31785787   PMID:31845986   PMID:32572027  


Genomics

Comparative Map Data
OXR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8106,359,476 - 106,752,694 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8106,270,144 - 106,752,694 (+)EnsemblGRCh38hg38GRCh38
GRCh388106,270,178 - 106,752,694 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378107,282,406 - 107,764,922 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368107,739,270 - 107,834,097 (+)NCBINCBI36hg18NCBI36
Build 348107,739,269 - 107,832,861NCBI
Celera8103,469,771 - 103,951,905 (+)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8102,604,276 - 103,085,972 (+)NCBIHuRef
CHM1_18107,322,938 - 107,805,369 (+)NCBICHM1_1
Oxr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391541,310,745 - 41,724,447 (+)NCBIGRCm39mm39
GRCm39 Ensembl1541,310,878 - 41,724,444 (+)Ensembl
GRCm381541,447,482 - 41,861,051 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1541,447,482 - 41,861,048 (+)EnsemblGRCm38mm10GRCm38
MGSCv371541,279,028 - 41,692,594 (+)NCBIGRCm37mm9NCBIm37
MGSCv361541,619,589 - 41,691,122 (+)NCBImm8
Celera1541,930,186 - 42,359,188 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
Oxr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2772,528,782 - 72,965,666 (+)NCBI
Rnor_6.0 Ensembl780,351,774 - 80,788,094 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0780,351,774 - 80,788,094 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0780,377,737 - 80,579,283 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0780,737,306 - 80,812,054 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4777,427,877 - 77,501,800 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1777,486,043 - 77,522,511 (+)NCBI
Celera769,547,701 - 69,981,800 (+)NCBICelera
Cytogenetic Map7q31NCBI
Oxr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541729,605,916 - 29,875,041 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541729,605,962 - 29,875,041 (+)NCBIChiLan1.0ChiLan1.0
OXR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18105,143,466 - 105,539,556 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8105,143,466 - 105,685,965 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08102,904,139 - 103,392,971 (+)NCBIMhudiblu_PPA_v0panPan3
OXR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1137,220,959 - 7,580,881 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl137,220,958 - 7,579,473 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha137,227,582 - 7,586,858 (+)NCBI
ROS_Cfam_1.0137,475,594 - 7,841,407 (+)NCBI
UMICH_Zoey_3.1137,236,654 - 7,595,837 (+)NCBI
UNSW_CanFamBas_1.0137,356,780 - 7,716,425 (+)NCBI
UU_Cfam_GSD_1.0137,432,915 - 7,792,934 (+)NCBI
Oxr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530330,308,050 - 30,711,154 (-)NCBI
SpeTri2.0NW_00493647037,734,149 - 38,137,252 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OXR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl430,734,514 - 31,400,997 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1430,735,844 - 31,254,952 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2433,378,196 - 33,881,792 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OXR1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18101,059,060 - 101,534,283 (+)NCBI
ChlSab1.1 Ensembl8101,361,828 - 101,535,932 (+)Ensembl
Vero_WHO_p1.0NW_02366603939,049,904 - 39,517,807 (-)NCBI
Oxr1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476322,008,477 - 22,344,330 (+)NCBI

Position Markers
D8S1830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,417,333 - 107,417,527UniSTSGRCh37
Build 368107,486,509 - 107,486,703RGDNCBI36
Celera8103,604,619 - 103,604,785RGD
Cytogenetic Map8q23UniSTS
HuRef8102,739,108 - 102,739,256UniSTS
Marshfield Genetic Map8119.22RGD
Marshfield Genetic Map8119.22UniSTS
Genethon Genetic Map8117.9UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,328,872 - 107,329,028UniSTSGRCh37
Build 368107,398,048 - 107,398,204RGDNCBI36
Celera8103,516,168 - 103,516,317RGD
Cytogenetic Map8q23UniSTS
HuRef8102,650,646 - 102,650,802UniSTS
Marshfield Genetic Map8119.22RGD
Marshfield Genetic Map8119.22UniSTS
Whitehead-RH Map8570.7UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,328,872 - 107,329,021UniSTSGRCh37
Build 368107,398,048 - 107,398,197RGDNCBI36
Celera8103,516,168 - 103,516,310RGD
Cytogenetic Map8q23UniSTS
HuRef8102,650,646 - 102,650,795UniSTS
Whitehead-RH Map8587.4UniSTS
Whitehead-YAC Contig Map8 UniSTS
WI-13576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,763,940 - 107,764,069UniSTSGRCh37
Build 368107,833,116 - 107,833,245RGDNCBI36
Celera8103,950,925 - 103,951,054RGD
Cytogenetic Map8q23UniSTS
HuRef8103,084,992 - 103,085,121UniSTS
GeneMap99-GB4 RH Map8446.32UniSTS
Whitehead-RH Map8589.1UniSTS
RH25344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,709,085 - 107,709,273UniSTSGRCh37
GRCh371159,888,023 - 159,888,211UniSTSGRCh37
Build 361158,154,647 - 158,154,835RGDNCBI36
Celera8103,896,054 - 103,896,242UniSTS
Celera1132,956,462 - 132,956,650RGD
Cytogenetic Map8q23UniSTS
Cytogenetic Map1q21-q25UniSTS
HuRef8103,030,448 - 103,030,636UniSTS
HuRef1131,244,734 - 131,244,922UniSTS
RH68257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,709,130 - 107,709,252UniSTSGRCh37
GRCh371159,888,068 - 159,888,190UniSTSGRCh37
Build 361158,154,692 - 158,154,814RGDNCBI36
Celera8103,896,099 - 103,896,221UniSTS
Celera1132,956,507 - 132,956,629RGD
Cytogenetic Map8q23UniSTS
Cytogenetic Map1q21-q25UniSTS
HuRef8103,030,493 - 103,030,615UniSTS
HuRef1131,244,779 - 131,244,901UniSTS
RH102200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,284,640 - 107,284,813UniSTSGRCh37
Build 368107,353,816 - 107,353,989RGDNCBI36
Celera8103,471,938 - 103,472,111RGD
Cytogenetic Map8q23UniSTS
HuRef8102,606,510 - 102,606,683UniSTS
GeneMap99-GB4 RH Map8444.05UniSTS
RH104243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,661,592 - 107,661,769UniSTSGRCh37
Build 368107,730,768 - 107,730,945RGDNCBI36
Celera8103,848,562 - 103,848,739RGD
Cytogenetic Map8q23UniSTS
HuRef8102,982,963 - 102,983,140UniSTS
GeneMap99-GB4 RH Map8446.03UniSTS
RH123715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,718,682 - 107,719,029UniSTSGRCh37
Build 368107,787,858 - 107,788,205RGDNCBI36
Celera8103,905,649 - 103,905,996RGD
Cytogenetic Map8q23UniSTS
HuRef8103,040,034 - 103,040,381UniSTS
TNG Radiation Hybrid Map853479.0UniSTS
Tagln2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,710,002 - 107,710,199UniSTSGRCh37
GRCh371159,889,567 - 159,890,258UniSTSGRCh37
Build 368107,779,178 - 107,779,375RGDNCBI36
Celera1132,958,006 - 132,958,697UniSTS
Celera8103,896,971 - 103,897,168RGD
HuRef8103,031,365 - 103,031,562UniSTS
HuRef1131,246,278 - 131,246,969UniSTS
SHGC-110387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,725,226 - 107,725,517UniSTSGRCh37
Build 368107,794,402 - 107,794,693RGDNCBI36
Celera8103,912,193 - 103,912,484RGD
Cytogenetic Map8q23UniSTS
HuRef8103,046,574 - 103,046,865UniSTS
TNG Radiation Hybrid Map853479.0UniSTS
SHGC-111864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,428,951 - 107,429,240UniSTSGRCh37
Build 368107,498,127 - 107,498,416RGDNCBI36
Celera8103,616,209 - 103,616,498RGD
Cytogenetic Map8q23UniSTS
HuRef8102,750,676 - 102,750,965UniSTS
TNG Radiation Hybrid Map853898.0UniSTS
SHGC-147677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,287,995 - 107,288,303UniSTSGRCh37
Build 368107,357,171 - 107,357,479RGDNCBI36
Celera8103,475,294 - 103,475,602RGD
Cytogenetic Map8q23UniSTS
HuRef8102,609,866 - 102,610,174UniSTS
TNG Radiation Hybrid Map853866.0UniSTS
SHGC-85774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,631,364 - 107,631,655UniSTSGRCh37
Build 368107,700,540 - 107,700,831RGDNCBI36
Celera8103,818,327 - 103,818,618RGD
Cytogenetic Map8q23UniSTS
HuRef8102,952,680 - 102,952,971UniSTS
TNG Radiation Hybrid Map853969.0UniSTS
GDB:314569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,502,348 - 107,502,640UniSTSGRCh37
Build 368107,571,524 - 107,571,816RGDNCBI36
Celera8103,689,600 - 103,689,892RGD
Cytogenetic Map8q23UniSTS
HuRef8102,824,082 - 102,824,374UniSTS
D8S446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,704,437 - 107,704,677UniSTSGRCh37
Build 368107,773,613 - 107,773,853RGDNCBI36
Celera8103,891,406 - 103,891,646RGD
Cytogenetic Map8q23UniSTS
HuRef8103,025,823 - 103,026,063UniSTS
SHGC-31183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,318,544 - 107,318,694UniSTSGRCh37
Build 368107,387,720 - 107,387,870RGDNCBI36
Celera8103,505,838 - 103,505,988RGD
Cytogenetic Map8q23UniSTS
HuRef8102,640,316 - 102,640,466UniSTS
TNG Radiation Hybrid Map853876.0UniSTS
GeneMap99-GB4 RH Map8439.71UniSTS
Whitehead-RH Map8587.4UniSTS
G31477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,661,477 - 107,661,601UniSTSGRCh37
Build 368107,730,653 - 107,730,777RGDNCBI36
Celera8103,848,447 - 103,848,571RGD
Cytogenetic Map8q23UniSTS
HuRef8102,982,848 - 102,982,972UniSTS
EST14A2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378107,764,623 - 107,764,815UniSTSGRCh37
Build 368107,833,799 - 107,833,991RGDNCBI36
Celera8103,951,606 - 103,951,798RGD
HuRef8103,085,673 - 103,085,865UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
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Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4845
Count of miRNA genes:814
Interacting mature miRNAs:969
Transcripts:ENST00000297447, ENST00000312046, ENST00000435082, ENST00000438229, ENST00000442977, ENST00000445937, ENST00000449762, ENST00000452423, ENST00000497705, ENST00000517455, ENST00000517566, ENST00000517686, ENST00000519415, ENST00000521592, ENST00000521864, ENST00000521963, ENST00000531443
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1936 1484 1225 293 895 136 4023 1488 2546 299 1317 1398 168 1113 2566 3
Low 496 1462 498 331 1013 328 332 703 1162 118 133 208 3 91 222 1 2
Below cutoff 1 38 39 1 2 3 2 6 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001198532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB075503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF309387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM472225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM668428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM682193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA232248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA544318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC366184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ020202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN650108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN650109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297447   ⟹   ENSP00000297447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,726,107 - 106,752,016 (+)Ensembl
RefSeq Acc Id: ENST00000312046   ⟹   ENSP00000311026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,657,854 - 106,752,694 (+)Ensembl
RefSeq Acc Id: ENST00000435082   ⟹   ENSP00000387886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,657,668 - 106,751,861 (+)Ensembl
RefSeq Acc Id: ENST00000438229   ⟹   ENSP00000414992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,657,891 - 106,706,982 (+)Ensembl
RefSeq Acc Id: ENST00000442977   ⟹   ENSP00000405424
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,447,924 - 106,751,173 (+)Ensembl
RefSeq Acc Id: ENST00000449762   ⟹   ENSP00000408659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,726,012 - 106,752,679 (+)Ensembl
RefSeq Acc Id: ENST00000497705   ⟹   ENSP00000431014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,618,126 - 106,707,690 (+)Ensembl
RefSeq Acc Id: ENST00000517455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,682,493 - 106,703,087 (+)Ensembl
RefSeq Acc Id: ENST00000517566   ⟹   ENSP00000429205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,359,476 - 106,752,682 (+)Ensembl
RefSeq Acc Id: ENST00000517686   ⟹   ENSP00000429438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,580,974 - 106,684,340 (+)Ensembl
RefSeq Acc Id: ENST00000519415   ⟹   ENSP00000430701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,706,381 - 106,751,861 (+)Ensembl
RefSeq Acc Id: ENST00000521369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,270,144 - 106,272,899 (+)Ensembl
RefSeq Acc Id: ENST00000521592   ⟹   ENSP00000435104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,726,185 - 106,751,195 (+)Ensembl
RefSeq Acc Id: ENST00000521864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,740,243 - 106,742,484 (+)Ensembl
RefSeq Acc Id: ENST00000521963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,581,004 - 106,605,204 (+)Ensembl
RefSeq Acc Id: ENST00000531443   ⟹   ENSP00000431966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,359,476 - 106,751,861 (+)Ensembl
RefSeq Acc Id: ENST00000577661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,270,236 - 106,272,206 (+)Ensembl
RefSeq Acc Id: ENST00000658832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,270,290 - 106,272,774 (+)Ensembl
RefSeq Acc Id: ENST00000661818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8106,270,291 - 106,272,902 (+)Ensembl
RefSeq Acc Id: NM_001198532   ⟹   NP_001185461
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,447,924 - 106,752,694 (+)NCBI
GRCh378107,282,406 - 107,764,922 (+)ENTREZGENE
HuRef8102,604,276 - 103,085,972 (+)ENTREZGENE
CHM1_18107,500,637 - 107,805,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198533   ⟹   NP_001185462
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,270,190 - 106,752,694 (+)NCBI
GRCh378107,282,406 - 107,764,922 (+)ENTREZGENE
HuRef8102,604,276 - 103,085,972 (+)ENTREZGENE
CHM1_18107,322,938 - 107,805,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198534   ⟹   NP_001185463
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,726,107 - 106,752,694 (+)NCBI
GRCh378107,282,406 - 107,764,922 (+)ENTREZGENE
HuRef8102,604,276 - 103,085,972 (+)ENTREZGENE
CHM1_18107,778,792 - 107,805,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198535   ⟹   NP_001185464
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,726,107 - 106,752,694 (+)NCBI
GRCh378107,282,406 - 107,764,922 (+)ENTREZGENE
HuRef8102,604,276 - 103,085,972 (+)ENTREZGENE
CHM1_18107,778,792 - 107,805,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018002   ⟹   NP_060472
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,270,178 - 106,752,694 (+)NCBI
GRCh378107,282,406 - 107,764,922 (+)ENTREZGENE
Celera8103,469,771 - 103,951,905 (+)RGD
HuRef8102,604,276 - 103,085,972 (+)ENTREZGENE
CHM1_18107,322,938 - 107,805,369 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181354   ⟹   NP_851999
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,657,808 - 106,752,694 (+)NCBI
GRCh378107,282,406 - 107,764,922 (+)ENTREZGENE
Build 368107,739,270 - 107,834,097 (+)NCBI Archive
Celera8103,469,771 - 103,951,905 (+)RGD
HuRef8102,604,276 - 103,085,972 (+)ENTREZGENE
CHM1_18107,710,517 - 107,805,369 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716595   ⟹   XP_006716658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,447,929 - 106,752,690 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013589   ⟹   XP_016869078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,657,842 - 106,752,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013590   ⟹   XP_016869079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,617,996 - 106,752,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013591   ⟹   XP_016869080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,580,974 - 106,752,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013592   ⟹   XP_016869081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,659,291 - 106,752,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013593   ⟹   XP_016869082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,657,892 - 106,752,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013594   ⟹   XP_016869083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,657,892 - 106,752,690 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013595   ⟹   XP_016869084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,657,842 - 106,752,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013596   ⟹   XP_016869085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,270,206 - 106,752,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013597   ⟹   XP_016869086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,618,003 - 106,752,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013598   ⟹   XP_016869087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,657,892 - 106,752,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013599   ⟹   XP_016869088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,657,842 - 106,752,694 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013600   ⟹   XP_016869089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,657,892 - 106,752,694 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745546
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,447,929 - 106,740,433 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745547
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,447,929 - 106,739,527 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745548
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,270,179 - 106,752,694 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001185461 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185462 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185463 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185464 (Get FASTA)   NCBI Sequence Viewer  
  NP_060472 (Get FASTA)   NCBI Sequence Viewer  
  NP_851999 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716658 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869078 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869079 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869080 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869081 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869082 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869083 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869084 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869085 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869086 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869087 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869088 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869089 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG25715 (Get FASTA)   NCBI Sequence Viewer  
  AAH19691 (Get FASTA)   NCBI Sequence Viewer  
  AAH32710 (Get FASTA)   NCBI Sequence Viewer  
  AAY26396 (Get FASTA)   NCBI Sequence Viewer  
  BAA91456 (Get FASTA)   NCBI Sequence Viewer  
  BAC04711 (Get FASTA)   NCBI Sequence Viewer  
  BAC85852 (Get FASTA)   NCBI Sequence Viewer  
  BAE45753 (Get FASTA)   NCBI Sequence Viewer  
  BAF85588 (Get FASTA)   NCBI Sequence Viewer  
  BAH12388 (Get FASTA)   NCBI Sequence Viewer  
  BAH13819 (Get FASTA)   NCBI Sequence Viewer  
  BAH14021 (Get FASTA)   NCBI Sequence Viewer  
  BAH14524 (Get FASTA)   NCBI Sequence Viewer  
  CAI46186 (Get FASTA)   NCBI Sequence Viewer  
  CBI84064 (Get FASTA)   NCBI Sequence Viewer  
  CBI84065 (Get FASTA)   NCBI Sequence Viewer  
  EAW91903 (Get FASTA)   NCBI Sequence Viewer  
  EAW91904 (Get FASTA)   NCBI Sequence Viewer  
  EAW91905 (Get FASTA)   NCBI Sequence Viewer  
  Q8N573 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_060472   ⟸   NM_018002
- Peptide Label: isoform 1
- UniProtKB: Q8N573 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_851999   ⟸   NM_181354
- Peptide Label: isoform 2
- UniProtKB: Q8N573 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185462   ⟸   NM_001198533
- Peptide Label: isoform 4
- UniProtKB: Q8N573 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185461   ⟸   NM_001198532
- Peptide Label: isoform 3
- UniProtKB: Q8N573 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185463   ⟸   NM_001198534
- Peptide Label: isoform 5
- UniProtKB: Q8N573 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185464   ⟸   NM_001198535
- Peptide Label: isoform 6
- UniProtKB: Q8N573 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716658   ⟸   XM_006716595
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869085   ⟸   XM_017013596
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016869080   ⟸   XM_017013591
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869079   ⟸   XM_017013590
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869086   ⟸   XM_017013597
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016869083   ⟸   XM_017013594
- Peptide Label: isoform X7
- UniProtKB: Q8N573 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869082   ⟸   XM_017013593
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016869087   ⟸   XM_017013598
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016869088   ⟸   XM_017013599
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016869078   ⟸   XM_017013589
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869084   ⟸   XM_017013595
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016869089   ⟸   XM_017013600
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016869081   ⟸   XM_017013592
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000414992   ⟸   ENST00000438229
RefSeq Acc Id: ENSP00000429438   ⟸   ENST00000517686
RefSeq Acc Id: ENSP00000429205   ⟸   ENST00000517566
RefSeq Acc Id: ENSP00000430701   ⟸   ENST00000519415
RefSeq Acc Id: ENSP00000431966   ⟸   ENST00000531443
RefSeq Acc Id: ENSP00000297447   ⟸   ENST00000297447
RefSeq Acc Id: ENSP00000405424   ⟸   ENST00000442977
RefSeq Acc Id: ENSP00000435104   ⟸   ENST00000521592
RefSeq Acc Id: ENSP00000311026   ⟸   ENST00000312046
RefSeq Acc Id: ENSP00000431014   ⟸   ENST00000497705
RefSeq Acc Id: ENSP00000387886   ⟸   ENST00000435082
RefSeq Acc Id: ENSP00000408659   ⟸   ENST00000449762
Protein Domains
GRAM   LysM   TLDc

Promoters
RGD ID:7213969
Promoter ID:EPDNEW_H12730
Type:initiation region
Name:OXR1_2
Description:oxidation resistance 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12731  EPDNEW_H12732  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,270,245 - 106,270,305EPDNEW
RGD ID:7213971
Promoter ID:EPDNEW_H12731
Type:initiation region
Name:OXR1_1
Description:oxidation resistance 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12730  EPDNEW_H12732  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,657,856 - 106,657,916EPDNEW
RGD ID:7213973
Promoter ID:EPDNEW_H12732
Type:initiation region
Name:OXR1_3
Description:oxidation resistance 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12730  EPDNEW_H12731  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388106,726,153 - 106,726,213EPDNEW
RGD ID:6806899
Promoter ID:HG_KWN:61901
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000336821,   OTTHUMT00000343925,   UC003YMI.1,   UC010MCG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368107,738,791 - 107,739,372 (+)MPROMDB
RGD ID:6806900
Promoter ID:HG_KWN:61904
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:UC003YMK.1,   UC003YML.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368107,807,326 - 107,807,826 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1 copy number loss See cases [RCV000051020] Chr8:105053530..107803535 [GRCh38]
Chr8:106065758..108815763 [GRCh37]
Chr8:106134934..108884939 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_001198532.1(OXR1):c.560C>T (p.Pro187Leu) single nucleotide variant Malignant melanoma [RCV000068078] Chr8:106692759 [GRCh38]
Chr8:107704987 [GRCh37]
Chr8:107774163 [NCBI36]
Chr8:8q23.1
not provided
NM_001198532.1(OXR1):c.2113C>T (p.Arg705Ter) single nucleotide variant Malignant melanoma [RCV000068079] Chr8:106739530 [GRCh38]
Chr8:107751758 [GRCh37]
Chr8:107820934 [NCBI36]
Chr8:8q23.1
not provided
NM_001198533.1(OXR1):c.-138-12479C>T single nucleotide variant Lung cancer [RCV000106774] Chr8:106346997 [GRCh38]
Chr8:107359225 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_001198532.1(OXR1):c.1960-11515A>T single nucleotide variant Lung cancer [RCV000106775] Chr8:106726005 [GRCh38]
Chr8:107738233 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_001198533.2(OXR1):c.2163+5G>A single nucleotide variant Congenital cerebellar hypoplasia [RCV001291778] Chr8:106739588 [GRCh38]
Chr8:107751816 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q23.1(chr8:106295584-106657774)x3 copy number gain See cases [RCV000135856] Chr8:106295584..106657774 [GRCh38]
Chr8:107307812..107670002 [GRCh37]
Chr8:107376988..107739178 [NCBI36]
Chr8:8q23.1
benign
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q23.1(chr8:105380252-106481199)x3 copy number gain See cases [RCV000137805] Chr8:105380252..106481199 [GRCh38]
Chr8:106392480..107493427 [GRCh37]
Chr8:106461656..107562603 [NCBI36]
Chr8:8q23.1
pathogenic|likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q23.1(chr8:105374298-106481199)x3 copy number gain See cases [RCV000138266] Chr8:105374298..106481199 [GRCh38]
Chr8:106386526..107493427 [GRCh37]
Chr8:106455702..107562603 [NCBI36]
Chr8:8q23.1
uncertain significance
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8q23.1(chr8:106377557-107502955)x3 copy number gain See cases [RCV000511608] Chr8:106377557..107502955 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.1(chr8:107509850-107773415)x0 copy number loss not provided [RCV000585120] Chr8:107509850..107773415 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1(chr8:106385049-107502130)x3 copy number gain not provided [RCV000747752] Chr8:106385049..107502130 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8q23.1(chr8:107535798-107546500)x3 copy number gain not provided [RCV000747760] Chr8:107535798..107546500 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_018002.3(OXR1):c.2082+1G>T single nucleotide variant Congenital cerebellar hypoplasia [RCV000993803] Chr8:106739584 [GRCh38]
Chr8:107751812 [GRCh37]
Chr8:8q23.1
pathogenic
NM_018002.3(OXR1):c.1100C>G (p.Ser367Ter) single nucleotide variant Congenital cerebellar hypoplasia [RCV000993804] Chr8:106706621 [GRCh38]
Chr8:107718849 [GRCh37]
Chr8:8q23.1
pathogenic
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3
uncertain significance
NM_018002.3:c.1324delA deletion Congenital cerebellar hypoplasia [RCV000993805] Chr8:8q23.1 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_018002.3:c.2236-1G>C single nucleotide variant Congenital cerebellar hypoplasia [RCV000993806] Chr8:8q23.1 pathogenic
NM_018002.3(OXR1):c.1459C>G (p.Gln487Glu) single nucleotide variant not provided [RCV001172191] Chr8:106706980 [GRCh38]
Chr8:107719208 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_018002.3(OXR1):c.2479C>T (p.Arg827Cys) single nucleotide variant not provided [RCV001172192] Chr8:106750879 [GRCh38]
Chr8:107763107 [GRCh37]
Chr8:8q23.1
uncertain significance
NM_018002.3(OXR1):c.1324del (p.Ser442fs) deletion Congenital cerebellar hypoplasia [RCV000993805]|Seizures [RCV000856834] Chr8:106706844 [GRCh38]
Chr8:107719072 [GRCh37]
Chr8:8q23.1
pathogenic|likely pathogenic
NM_018002.3(OXR1):c.2236-1G>C single nucleotide variant Congenital cerebellar hypoplasia [RCV000993806]|Seizures [RCV000856835] Chr8:106742221 [GRCh38]
Chr8:107754449 [GRCh37]
Chr8:8q23.1
pathogenic|likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15822 AgrOrtholog
COSMIC OXR1 COSMIC
Ensembl Genes ENSG00000164830 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297447 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000311026 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387886 UniProtKB/TrEMBL
  ENSP00000405424 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000408659 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000414992 UniProtKB/TrEMBL
  ENSP00000429205 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429438 UniProtKB/TrEMBL
  ENSP00000430701 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000431014 UniProtKB/Swiss-Prot
  ENSP00000431966 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435104 UniProtKB/TrEMBL
Ensembl Transcript ENST00000297447 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000312046 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000435082 UniProtKB/TrEMBL
  ENST00000438229 UniProtKB/TrEMBL
  ENST00000442977 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000449762 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000497705 UniProtKB/Swiss-Prot
  ENST00000517566 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517686 UniProtKB/TrEMBL
  ENST00000519415 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000521592 UniProtKB/TrEMBL
  ENST00000531443 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.350.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164830 GTEx
HGNC ID HGNC:15822 ENTREZGENE
Human Proteome Map OXR1 Human Proteome Map
InterPro LysM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LysM_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TLDc_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55074 UniProtKB/Swiss-Prot
NCBI Gene 55074 ENTREZGENE
OMIM 213000 OMIM
  605609 OMIM
Pfam LysM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32856 PharmGKB
PROSITE LYSM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TLDC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LysM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TLDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JY63_HUMAN UniProtKB/TrEMBL
  E5RFD1_HUMAN UniProtKB/TrEMBL
  E5RII8_HUMAN UniProtKB/TrEMBL
  E9PLW2_HUMAN UniProtKB/TrEMBL
  H0YC07_HUMAN UniProtKB/TrEMBL
  OXR1_HUMAN UniProtKB/Swiss-Prot
  Q05CY8_HUMAN UniProtKB/TrEMBL
  Q8N573 ENTREZGENE
UniProt Secondary A6NK11 UniProtKB/Swiss-Prot
  A8KA34 UniProtKB/Swiss-Prot
  B3KXL1 UniProtKB/Swiss-Prot
  B7Z402 UniProtKB/Swiss-Prot
  B7Z8N5 UniProtKB/Swiss-Prot
  D3HIS6 UniProtKB/Swiss-Prot
  Q3LIB5 UniProtKB/Swiss-Prot
  Q6ZVK9 UniProtKB/Swiss-Prot
  Q8N8V0 UniProtKB/Swiss-Prot
  Q9H266 UniProtKB/Swiss-Prot
  Q9NWC7 UniProtKB/Swiss-Prot