ENOX2 (ecto-NOX disulfide-thiol exchanger 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ENOX2 (ecto-NOX disulfide-thiol exchanger 2) Homo sapiens
Analyze
Symbol: ENOX2
Name: ecto-NOX disulfide-thiol exchanger 2
RGD ID: 1345108
HGNC Page HGNC
Description: Exhibits protein disulfide oxidoreductase activity. Involved in ultradian rhythm. Localizes to external side of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: APK1; APK1 antigen; COVA1; cytosolic ovarian carcinoma antigen 1; ecto-NADPH oxidase disulfide-thiol exchanger 2; tNOX; tumor-associated hydroquinone oxidase; tumor-associated NADH oxidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX130,622,325 - 130,903,317 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX130,623,369 - 130,903,317 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX130,622,325 - 130,903,234 (-)EnsemblGRCh38hg38GRCh38
GRCh38X130,622,325 - 130,903,317 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,756,299 - 130,037,183 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,585,036 - 129,864,889 (-)NCBINCBI36hg18NCBI36
Build 34X129,482,893 - 129,762,743NCBI
CeleraX130,143,767 - 130,423,625 (-)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX119,152,711 - 119,430,022 (-)NCBIHuRef
CHM1_1X129,669,026 - 129,948,992 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:1888291   PMID:8150545   PMID:9046026   PMID:9932650   PMID:10354495   PMID:11412089   PMID:11437345   PMID:11488599   PMID:11825610   PMID:11888291   PMID:11941450   PMID:12356293  
PMID:12477932   PMID:14702039   PMID:15489334   PMID:15706060   PMID:15772651   PMID:16189514   PMID:16344560   PMID:18023414   PMID:18029348   PMID:18351130   PMID:18789934   PMID:19734125  
PMID:20345278   PMID:20922471   PMID:21571040   PMID:21625959   PMID:21988832   PMID:22658674   PMID:22659163   PMID:23602568   PMID:23667531   PMID:24457600   PMID:24906676   PMID:25416956  
PMID:27107014   PMID:27271588   PMID:27609421   PMID:28122359   PMID:29507755   PMID:32296183  


Genomics

Comparative Map Data
ENOX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX130,622,325 - 130,903,317 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX130,623,369 - 130,903,317 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX130,622,325 - 130,903,234 (-)EnsemblGRCh38hg38GRCh38
GRCh38X130,622,325 - 130,903,317 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X129,756,299 - 130,037,183 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,585,036 - 129,864,889 (-)NCBINCBI36hg18NCBI36
Build 34X129,482,893 - 129,762,743NCBI
CeleraX130,143,767 - 130,423,625 (-)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX119,152,711 - 119,430,022 (-)NCBIHuRef
CHM1_1X129,669,026 - 129,948,992 (-)NCBICHM1_1
Enox2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X48,098,584 - 48,377,126 (-)NCBIGRCm39mm39
GRCm39 EnsemblX48,098,584 - 48,377,136 (-)Ensembl
GRCm38X49,009,707 - 49,288,243 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX49,009,707 - 49,288,259 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X46,363,699 - 46,641,419 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X45,255,149 - 45,532,869 (-)NCBImm8
CeleraX36,501,417 - 36,780,515 (-)NCBICelera
Cytogenetic MapXA5NCBI
Enox2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X128,270,941 - 128,593,074 (-)NCBI
Rnor_6.0 EnsemblX135,918,929 - 136,303,249 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X135,918,938 - 136,303,267 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X135,987,081 - 136,369,913 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X135,486,042 - 135,572,216 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX127,210,884 - 127,530,006 (-)NCBICelera
Cytogenetic MapXq36NCBI
Enox2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554734,358,232 - 4,455,268 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554734,123,403 - 4,455,268 (+)NCBIChiLan1.0ChiLan1.0
ENOX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X130,051,402 - 130,354,729 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX130,049,580 - 130,236,931 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X119,761,641 - 120,039,567 (-)NCBIMhudiblu_PPA_v0panPan3
ENOX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X101,742,417 - 102,023,786 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX101,745,195 - 102,006,484 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX87,918,023 - 88,198,057 (-)NCBI
ROS_Cfam_1.0X103,599,988 - 103,880,291 (-)NCBI
UMICH_Zoey_3.1X101,014,538 - 101,294,795 (-)NCBI
UNSW_CanFamBas_1.0X102,859,890 - 103,144,054 (-)NCBI
UU_Cfam_GSD_1.0X102,638,580 - 102,922,792 (-)NCBI
Enox2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X99,939,241 - 100,237,088 (-)NCBI
SpeTri2.0NW_004936479750,699 - 1,048,255 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENOX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX107,084,384 - 107,368,473 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X107,084,378 - 107,368,520 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X122,802,401 - 123,034,855 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ENOX2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X105,868,617 - 106,159,012 (-)NCBI
ChlSab1.1 EnsemblX105,868,615 - 106,158,153 (-)Ensembl
Vero_WHO_p1.0NW_02366606543,292,811 - 43,580,556 (-)NCBI
Enox2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247979,921,112 - 10,285,984 (-)NCBI

Position Markers
DXS7139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,907,898 - 129,908,102UniSTSGRCh37
Build 36X129,735,579 - 129,735,783RGDNCBI36
CeleraX130,294,316 - 130,294,520RGD
Cytogenetic MapXq25UniSTS
HuRefX119,301,784 - 119,301,988UniSTS
Whitehead-RH MapX284.0UniSTS
Whitehead-YAC Contig MapX UniSTS
DXS7406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,863,266 - 129,863,376UniSTSGRCh37
Build 36X129,690,947 - 129,691,057RGDNCBI36
CeleraX130,249,683 - 130,249,793RGD
Cytogenetic MapXq25UniSTS
HuRefX119,258,847 - 119,258,957UniSTS
L77640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,012,287 - 130,012,397UniSTSGRCh37
Build 36X129,839,968 - 129,840,078RGDNCBI36
CeleraX130,398,705 - 130,398,815RGD
Cytogenetic MapXq25UniSTS
HuRefX119,405,215 - 119,405,325UniSTS
AL023931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,031,308 - 130,031,427UniSTSGRCh37
Build 36X129,858,989 - 129,859,108RGDNCBI36
CeleraX130,417,725 - 130,417,844RGD
Cytogenetic MapXq25UniSTS
HuRefX119,424,122 - 119,424,241UniSTS
DXS6756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,858,660 - 129,858,936UniSTSGRCh37
Build 36X129,686,341 - 129,686,617RGDNCBI36
CeleraX130,245,077 - 130,245,353RGD
Cytogenetic MapXq25UniSTS
HuRefX119,254,147 - 119,254,423UniSTS
Whitehead-RH MapX284.0UniSTS
Whitehead-YAC Contig MapX UniSTS
AL032617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,800,901 - 129,801,023UniSTSGRCh37
Build 36X129,628,582 - 129,628,704RGDNCBI36
CeleraX130,187,317 - 130,187,439RGD
Cytogenetic MapXq25UniSTS
HuRefX119,196,248 - 119,196,370UniSTS
AL032587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,037,907 - 130,038,055UniSTSGRCh37
Build 36X129,865,588 - 129,865,736RGDNCBI36
CeleraX130,424,324 - 130,424,472RGD
Cytogenetic MapXq25UniSTS
HuRefX119,430,713 - 119,430,861UniSTS
AL032598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,868,100 - 129,868,278UniSTSGRCh37
Build 36X129,695,781 - 129,695,959RGDNCBI36
CeleraX130,254,517 - 130,254,695RGD
Cytogenetic MapXq25UniSTS
HuRefX119,263,682 - 119,263,860UniSTS
RH119214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,825,936 - 129,826,210UniSTSGRCh37
Build 36X129,653,617 - 129,653,891RGDNCBI36
CeleraX130,212,352 - 130,212,626RGD
Cytogenetic MapXq25UniSTS
HuRefX119,221,147 - 119,221,421UniSTS
TNG Radiation Hybrid MapX28499.0UniSTS
L78119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,891,053 - 129,891,192UniSTSGRCh37
Build 36X129,718,734 - 129,718,873RGDNCBI36
CeleraX130,277,471 - 130,277,610RGD
Cytogenetic MapXq25UniSTS
HuRefX119,284,932 - 119,285,071UniSTS
RH65046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371044,225,015 - 44,225,130UniSTSGRCh37
GRCh37X129,781,131 - 129,781,244UniSTSGRCh37
Build 36X129,608,812 - 129,608,925RGDNCBI36
Celera1040,228,624 - 40,228,739UniSTS
CeleraX130,167,547 - 130,167,660RGD
Cytogenetic MapXq25UniSTS
HuRefX119,176,417 - 119,176,530UniSTS
HuRef1040,752,001 - 40,752,116UniSTS
GeneMap99-GB4 RH Map10262.03UniSTS
NCBI RH Map10591.5UniSTS
AL008918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,844,849 - 129,844,968UniSTSGRCh37
Build 36X129,672,530 - 129,672,649RGDNCBI36
CeleraX130,231,265 - 130,231,384RGD
Cytogenetic MapXq25UniSTS
HuRefX119,240,334 - 119,240,453UniSTS
RH16270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,757,967 - 129,758,089UniSTSGRCh37
Build 36X129,585,648 - 129,585,770RGDNCBI36
CeleraX130,144,379 - 130,144,501RGD
Cytogenetic MapXq25UniSTS
HuRefX119,153,323 - 119,153,445UniSTS
GeneMap99-GB4 RH MapX306.65UniSTS
DXS8261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,826,247 - 129,826,336UniSTSGRCh37
Build 36X129,653,928 - 129,654,017RGDNCBI36
CeleraX130,212,663 - 130,212,752RGD
Cytogenetic MapXq25UniSTS
HuRefX119,221,458 - 119,221,547UniSTS
DXS7676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,970,639 - 129,970,698UniSTSGRCh37
Build 36X129,798,320 - 129,798,379RGDNCBI36
CeleraX130,357,057 - 130,357,116RGD
Cytogenetic MapXq25UniSTS
HuRefX119,363,611 - 119,363,670UniSTS
DXS7648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,832,552 - 129,832,675UniSTSGRCh37
Build 36X129,660,233 - 129,660,356RGDNCBI36
CeleraX130,218,968 - 130,219,091RGD
Cytogenetic MapXq25UniSTS
HuRefX119,228,043 - 119,228,166UniSTS
L77627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,847,048 - 129,847,149UniSTSGRCh37
Build 36X129,674,729 - 129,674,830RGDNCBI36
CeleraX130,233,464 - 130,233,565RGD
Cytogenetic MapXq25UniSTS
HuRefX119,242,533 - 119,242,634UniSTS
G18234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,839,104 - 129,839,222UniSTSGRCh37
Build 36X129,666,785 - 129,666,903RGDNCBI36
CeleraX130,225,520 - 130,225,638RGD
Cytogenetic MapXq25UniSTS
HuRefX119,234,656 - 119,234,774UniSTS
SHGC-34380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,757,914 - 129,758,026UniSTSGRCh37
Build 36X129,585,595 - 129,585,707RGDNCBI36
CeleraX130,144,326 - 130,144,438RGD
Cytogenetic MapXq25UniSTS
HuRefX119,153,270 - 119,153,382UniSTS
GeneMap99-GB4 RH MapX306.82UniSTS
Whitehead-RH MapX284.0UniSTS
GeneMap99-G3 RH MapX3981.0UniSTS
AFM319YH5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,759,792 - 129,760,039UniSTSGRCh37
Build 36X129,587,473 - 129,587,720RGDNCBI36
CeleraX130,146,204 - 130,146,451RGD
Cytogenetic MapXq25UniSTS
HuRefX119,155,148 - 119,155,395UniSTS
Whitehead-RH MapX284.0UniSTS
AFM289vf9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,871,164 - 129,871,474UniSTSGRCh37
Build 36X129,698,845 - 129,699,155RGDNCBI36
CeleraX130,257,581 - 130,257,891RGD
Cytogenetic MapXq25UniSTS
HuRefX119,266,746 - 119,267,056UniSTS
Whitehead-RH MapX284.0UniSTS
Whitehead-YAC Contig MapX UniSTS
A009X18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,757,976 - 129,758,125UniSTSGRCh37
Build 36X129,585,657 - 129,585,806RGDNCBI36
CeleraX130,144,388 - 130,144,537RGD
Cytogenetic MapXq25UniSTS
HuRefX119,153,332 - 119,153,481UniSTS
GeneMap99-GB4 RH MapX304.82UniSTS
L77651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,792,645 - 129,792,771UniSTSGRCh37
Build 36X129,620,326 - 129,620,452RGDNCBI36
CeleraX130,179,061 - 130,179,187RGD
Cytogenetic MapXq25UniSTS
HuRefX119,187,692 - 119,187,818UniSTS
D11S982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711121,921,846 - 121,921,967UniSTSGRCh37
GRCh37X129,889,816 - 129,889,881UniSTSGRCh37
Build 36X129,717,497 - 129,717,562RGDNCBI36
CeleraX130,276,234 - 130,276,299RGD
Celera11119,082,557 - 119,082,678UniSTS
Cytogenetic MapXq25UniSTS
HuRefX119,283,695 - 119,283,760UniSTS
HuRef11117,868,429 - 117,868,550UniSTS
GeneMap99-GB4 RH Map11403.56UniSTS
NCBI RH Map111024.0UniSTS
L78004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,762,428 - 129,762,503UniSTSGRCh37
Build 36X129,590,109 - 129,590,184RGDNCBI36
CeleraX130,148,840 - 130,148,915RGD
Cytogenetic MapXq25UniSTS
HuRefX119,157,785 - 119,157,860UniSTS
DXS8305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,014,931 - 130,015,040UniSTSGRCh37
Build 36X129,842,612 - 129,842,721RGDNCBI36
CeleraX130,401,349 - 130,401,458RGD
Cytogenetic MapXq25UniSTS
HuRefX119,407,859 - 119,407,968UniSTS
L78005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X130,013,824 - 130,014,029UniSTSGRCh37
Build 36X129,841,505 - 129,841,710RGDNCBI36
CeleraX130,400,242 - 130,400,447RGD
Cytogenetic MapXq25UniSTS
HuRefX119,406,752 - 119,406,957UniSTS
G32942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,757,976 - 129,758,125UniSTSGRCh37
CeleraX130,144,388 - 130,144,537UniSTS
Cytogenetic MapXq25UniSTS
HuRefX119,153,332 - 119,153,481UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4481
Count of miRNA genes:990
Interacting mature miRNAs:1190
Transcripts:ENST00000338144, ENST00000370927, ENST00000370935, ENST00000394363, ENST00000432489, ENST00000492263
Prediction methods:Miranda, Pita, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 409 1210 242 43 566 47 1173 123 264 116 439 405 8 244 719 2
Low 2030 1715 1484 581 1325 418 3183 2067 3469 303 1021 1208 167 1 960 2069 4 2
Below cutoff 66 60 7 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001281736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF207881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI540639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU160341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS461240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB128861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z80232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000338144   ⟹   ENSP00000337146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,623,385 - 130,903,317 (-)Ensembl
RefSeq Acc Id: ENST00000370927   ⟹   ENSP00000359965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,623,381 - 130,709,313 (-)Ensembl
RefSeq Acc Id: ENST00000370935   ⟹   ENSP00000359973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,623,369 - 130,903,234 (-)Ensembl
RefSeq Acc Id: ENST00000394363   ⟹   ENSP00000377890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,623,385 - 130,903,317 (-)Ensembl
RefSeq Acc Id: ENST00000432489   ⟹   ENSP00000400304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,656,581 - 130,903,204 (-)Ensembl
RefSeq Acc Id: ENST00000492263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,679,646 - 130,903,192 (-)Ensembl
RefSeq Acc Id: ENST00000610637   ⟹   ENSP00000478608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX130,623,902 - 130,667,701 (-)Ensembl
RefSeq Acc Id: NM_001281736   ⟹   NP_001268665
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
HuRefX119,152,709 - 119,430,105 (-)NCBI
CHM1_1X129,669,026 - 129,948,992 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382516   ⟹   NP_001369445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
RefSeq Acc Id: NM_001382517   ⟹   NP_001369446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
RefSeq Acc Id: NM_001382518   ⟹   NP_001369447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
RefSeq Acc Id: NM_001382519   ⟹   NP_001369448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
RefSeq Acc Id: NM_001382520   ⟹   NP_001369449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
RefSeq Acc Id: NM_001382521   ⟹   NP_001369450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
RefSeq Acc Id: NM_001382522   ⟹   NP_001369451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
RefSeq Acc Id: NM_006375   ⟹   NP_006366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
GRCh37X129,757,355 - 130,037,219 (-)NCBI
Build 36X129,585,036 - 129,864,889 (-)NCBI Archive
HuRefX119,152,709 - 119,430,105 (-)NCBI
CHM1_1X129,669,026 - 129,948,992 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182314   ⟹   NP_872114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,325 - 130,903,209 (-)NCBI
GRCh37X129,757,355 - 130,037,219 (-)NCBI
Build 36X129,585,036 - 129,864,889 (-)NCBI Archive
HuRefX119,152,709 - 119,430,105 (-)NCBI
CHM1_1X129,669,026 - 129,948,992 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531245   ⟹   XP_011529547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,622,330 - 130,903,317 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531247   ⟹   XP_011529549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,623,900 - 130,903,317 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531249   ⟹   XP_011529551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,623,900 - 130,715,544 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531251   ⟹   XP_011529553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,623,900 - 130,886,149 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029227   ⟹   XP_016884716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,623,900 - 130,887,355 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029228   ⟹   XP_016884717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,623,900 - 130,784,390 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001268665 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369445 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369446 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369447 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369448 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369449 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369451 (Get FASTA)   NCBI Sequence Viewer  
  NP_006366 (Get FASTA)   NCBI Sequence Viewer  
  NP_872114 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529547 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529549 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529551 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529553 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884716 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884717 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB30428 (Get FASTA)   NCBI Sequence Viewer  
  AAF20934 (Get FASTA)   NCBI Sequence Viewer  
  AAH19254 (Get FASTA)   NCBI Sequence Viewer  
  AAI08714 (Get FASTA)   NCBI Sequence Viewer  
  AAI39782 (Get FASTA)   NCBI Sequence Viewer  
  AAI40875 (Get FASTA)   NCBI Sequence Viewer  
  BAF82501 (Get FASTA)   NCBI Sequence Viewer  
  BAF82526 (Get FASTA)   NCBI Sequence Viewer  
  CAB61581 (Get FASTA)   NCBI Sequence Viewer  
  CAM12255 (Get FASTA)   NCBI Sequence Viewer  
  EAX11796 (Get FASTA)   NCBI Sequence Viewer  
  EAX11797 (Get FASTA)   NCBI Sequence Viewer  
  Q16206 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_006366   ⟸   NM_006375
- Peptide Label: isoform a
- UniProtKB: Q16206 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_872114   ⟸   NM_182314
- Peptide Label: isoform b
- UniProtKB: Q16206 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001268665   ⟸   NM_001281736
- Peptide Label: isoform a
- UniProtKB: Q16206 (UniProtKB/Swiss-Prot),   Q32ND0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529547   ⟸   XM_011531245
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529549   ⟸   XM_011531247
- Peptide Label: isoform X3
- UniProtKB: Q16206 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529553   ⟸   XM_011531251
- Peptide Label: isoform X4
- UniProtKB: Q16206 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529551   ⟸   XM_011531249
- Peptide Label: isoform X3
- UniProtKB: Q16206 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884716   ⟸   XM_017029227
- Peptide Label: isoform X3
- UniProtKB: Q16206 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884717   ⟸   XM_017029228
- Peptide Label: isoform X3
- UniProtKB: Q16206 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001369450   ⟸   NM_001382521
- Peptide Label: isoform e
RefSeq Acc Id: NP_001369449   ⟸   NM_001382520
- Peptide Label: isoform d
RefSeq Acc Id: NP_001369446   ⟸   NM_001382517
- Peptide Label: isoform b
RefSeq Acc Id: NP_001369451   ⟸   NM_001382522
- Peptide Label: isoform e
RefSeq Acc Id: NP_001369448   ⟸   NM_001382519
- Peptide Label: isoform d
RefSeq Acc Id: NP_001369447   ⟸   NM_001382518
- Peptide Label: isoform c
RefSeq Acc Id: NP_001369445   ⟸   NM_001382516
- Peptide Label: isoform b
RefSeq Acc Id: ENSP00000359965   ⟸   ENST00000370927
RefSeq Acc Id: ENSP00000359973   ⟸   ENST00000370935
RefSeq Acc Id: ENSP00000478608   ⟸   ENST00000610637
RefSeq Acc Id: ENSP00000337146   ⟸   ENST00000338144
RefSeq Acc Id: ENSP00000400304   ⟸   ENST00000432489
RefSeq Acc Id: ENSP00000377890   ⟸   ENST00000394363
Protein Domains
RRM

Promoters
RGD ID:6808654
Promoter ID:HG_KWN:68045
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000338144,   ENST00000370935,   ENST00000394363,   OTTHUMT00000058274,   OTTHUMT00000058275
Position:
Human AssemblyChrPosition (strand)Source
Build 36X129,864,629 - 129,865,129 (-)MPROMDB
RGD ID:13628106
Promoter ID:EPDNEW_H29327
Type:multiple initiation site
Name:ENOX2_2
Description:ecto-NOX disulfide-thiol exchanger 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29328  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,821,763 - 130,821,823EPDNEW
RGD ID:13628104
Promoter ID:EPDNEW_H29328
Type:initiation region
Name:ENOX2_1
Description:ecto-NOX disulfide-thiol exchanger 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29327  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,903,209 - 130,903,269EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_182314.2(ENOX2):c.1101+2343C>T single nucleotide variant Lung cancer [RCV000102316] ChrX:130663300 [GRCh38]
ChrX:129797274 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain See cases [RCV000052446] ChrX:128395951..132383344 [GRCh38]
ChrX:127529929..131517372 [GRCh37]
ChrX:127357610..131345053 [NCBI36]
ChrX:Xq25-26.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129760788-132675352)x0 copy number loss See cases [RCV000239967] ChrX:129760788..132675352 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129796796-132686500)x0 copy number loss See cases [RCV000240002] ChrX:129796796..132686500 [GRCh37]
ChrX:Xq26.1-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1-26.2(chrX:129863980-130725078)x2 copy number gain See cases [RCV000240266] ChrX:129863980..130725078 [GRCh37]
ChrX:Xq26.1-26.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1(chrX:129681013-130305495) copy number gain Abnormality of esophagus morphology [RCV000416931] ChrX:129681013..130305495 [GRCh37]
ChrX:Xq26.1
likely benign
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq26.1(chrX:129770027-130160458)x3 copy number gain not provided [RCV000684390] ChrX:129770027..130160458 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_182314.2(ENOX2):c.1216+6G>A single nucleotide variant not provided [RCV000971839] ChrX:130656575 [GRCh38]
ChrX:129790549 [GRCh37]
ChrX:Xq26.1
benign
NM_182314.2(ENOX2):c.1557T>C (p.Pro519=) single nucleotide variant not provided [RCV000892551] ChrX:130631526 [GRCh38]
ChrX:129765500 [GRCh37]
ChrX:Xq26.1
benign
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_182314.2(ENOX2):c.1275C>T (p.Leu425=) single nucleotide variant not provided [RCV000943130] ChrX:130637352 [GRCh38]
ChrX:129771326 [GRCh37]
ChrX:Xq26.1
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.1(chrX:129769236-130228660)x2 copy number gain not provided [RCV001007346] ChrX:129769236..130228660 [GRCh37]
ChrX:Xq26.1
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2259 AgrOrtholog
COSMIC ENOX2 COSMIC
Ensembl Genes ENSG00000165675 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000337146 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359965 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359973 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377890 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000400304 UniProtKB/TrEMBL
  ENSP00000478608 UniProtKB/TrEMBL
Ensembl Transcript ENST00000338144 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370927 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370935 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394363 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000432489 UniProtKB/TrEMBL
  ENST00000610637 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165675 GTEx
HGNC ID HGNC:2259 ENTREZGENE
Human Proteome Map ENOX2 Human Proteome Map
InterPro ENOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENOX_RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10495 UniProtKB/Swiss-Prot
NCBI Gene 10495 ENTREZGENE
OMIM 300282 OMIM
PANTHER PTHR16001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162385106 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGT9_HUMAN UniProtKB/TrEMBL
  A4QPE1_HUMAN UniProtKB/TrEMBL
  B1AKF7_HUMAN UniProtKB/TrEMBL
  ENOX2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q32ND0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K197 UniProtKB/Swiss-Prot
  A8K1C2 UniProtKB/Swiss-Prot
  Q5VTJ1 UniProtKB/Swiss-Prot
  Q5VTJ2 UniProtKB/Swiss-Prot
  Q8WUX0 UniProtKB/Swiss-Prot
  Q9NTP6 UniProtKB/Swiss-Prot
  Q9UH82 UniProtKB/Swiss-Prot