HEPH (hephaestin) - Rat Genome Database

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Gene: HEPH (hephaestin) Homo sapiens
Analyze
Symbol: HEPH
Name: hephaestin
RGD ID: 734284
HGNC Page HGNC
Description: Exhibits copper ion binding activity; ferrous iron binding activity; and ferroxidase activity. Involved in iron ion transport. Localizes to basolateral plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CPL; KIAA0698
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 EnsemblX66,162,549 - 66,268,867 (+)EnsemblGRCh38hg38GRCh38
GRCh38X66,162,526 - 66,268,863 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X65,382,513 - 65,488,705 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X65,299,388 - 65,403,956 (+)NCBINCBI36hg18NCBI36
Build 34X65,165,683 - 65,270,249NCBI
CeleraX65,729,951 - 65,834,741 (+)NCBI
Cytogenetic MapXq12NCBI
HuRefX59,211,026 - 59,315,881 (+)NCBIHuRef
CHM1_1X65,275,228 - 65,380,018 (+)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
(-)-demecolcine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
asbestos  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bilirubin IXalpha  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
carbonyl sulfide  (ISO)
chromium(6+)  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
dextran sulfate  (ISO)
dibenz[a,h]anthracene  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (ISO)
etoposide  (EXP)
furan  (ISO)
hydrogen peroxide  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
isoprenaline  (ISO)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
menadione  (EXP)
mercaptopurine  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
oxidopamine  (ISO)
progesterone  (ISO)
purine-6-thiol  (ISO)
quercetin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tebuconazole  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vincristine  (EXP)
zinc atom  (ISO)
zinc dichloride  (EXP)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:9734811   PMID:9988272   PMID:10843811   PMID:11891802   PMID:11932491   PMID:12168954   PMID:12477932   PMID:12949720   PMID:12975309   PMID:14702039   PMID:15146197   PMID:15342556  
PMID:15489334   PMID:16137899   PMID:16274220   PMID:17486601   PMID:18022819   PMID:19452451   PMID:20019163   PMID:20587610   PMID:20932654   PMID:21802403   PMID:21873635   PMID:22170436  
PMID:22268729   PMID:22503983   PMID:22666411   PMID:22961397   PMID:23640881   PMID:24988611   PMID:30442766   PMID:30647129   PMID:31495888   PMID:31973819  


Genomics

Comparative Map Data
HEPH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX66,162,549 - 66,268,867 (+)EnsemblGRCh38hg38GRCh38
GRCh38X66,162,526 - 66,268,863 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X65,382,513 - 65,488,705 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X65,299,388 - 65,403,956 (+)NCBINCBI36hg18NCBI36
Build 34X65,165,683 - 65,270,249NCBI
CeleraX65,729,951 - 65,834,741 (+)NCBI
Cytogenetic MapXq12NCBI
HuRefX59,211,026 - 59,315,881 (+)NCBIHuRef
CHM1_1X65,275,228 - 65,380,018 (+)NCBICHM1_1
Heph
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X95,499,042 - 95,618,091 (+)NCBIGRCm39mm39
GRCm39 EnsemblX95,498,965 - 95,618,091 (+)Ensembl
GRCm38X96,455,436 - 96,574,485 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX96,455,359 - 96,574,485 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X93,650,775 - 93,769,824 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X92,658,180 - 92,777,204 (+)NCBImm8
CeleraX83,458,771 - 83,577,333 (+)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX42.69NCBI
Heph
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X61,151,131 - 61,402,980 (+)NCBI
Rnor_6.0 EnsemblX65,563,122 - 65,658,516 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X65,377,313 - 65,658,479 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X66,388,085 - 66,488,433 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X84,033,540 - 84,138,728 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X84,106,831 - 84,212,018 (+)NCBI
CeleraX61,712,172 - 61,814,411 (+)NCBICelera
Cytogenetic MapXq22NCBI
Heph
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554755,625,150 - 5,704,234 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554755,625,177 - 5,704,234 (+)NCBIChiLan1.0ChiLan1.0
HEPH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X65,349,638 - 65,448,388 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX65,349,546 - 65,448,388 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X55,276,887 - 55,375,719 (+)NCBIMhudiblu_PPA_v0panPan3
HEPH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X50,989,918 - 51,102,777 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX50,989,700 - 51,101,189 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX41,826,463 - 41,936,925 (+)NCBI
ROS_Cfam_1.0X51,952,884 - 52,063,364 (+)NCBI
UMICH_Zoey_3.1X49,917,808 - 50,028,260 (+)NCBI
UNSW_CanFamBas_1.0X51,265,268 - 51,375,764 (+)NCBI
UU_Cfam_GSD_1.0X51,180,615 - 51,291,064 (+)NCBI
Heph
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X51,189,534 - 51,267,810 (-)NCBI
SpeTri2.0NW_0049366351,954,771 - 2,022,061 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEPH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX52,314,935 - 52,397,380 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X52,314,911 - 52,397,384 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X58,896,080 - 58,975,042 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEPH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X56,093,899 - 56,186,284 (+)NCBI
ChlSab1.1 EnsemblX56,092,407 - 56,187,931 (+)Ensembl
Heph
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248981,031,859 - 1,122,391 (-)NCBI

Position Markers
DXS1194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,420,048 - 65,420,195UniSTSGRCh37
GRCh37X65,420,022 - 65,420,288UniSTSGRCh37
Build 36X65,336,747 - 65,337,013RGDNCBI36
CeleraX65,767,539 - 65,767,805RGD
CeleraX65,767,565 - 65,767,712UniSTS
Cytogenetic MapXq11-q12UniSTS
HuRefX59,248,915 - 59,249,181UniSTS
HuRefX59,248,941 - 59,249,088UniSTS
Marshfield Genetic MapX52.5RGD
Genethon Genetic MapX87.6UniSTS
Stanford-G3 RH MapX2530.0UniSTS
GeneMap99-GB4 RH MapX212.68UniSTS
Whitehead-RH MapX147.2UniSTS
NCBI RH MapX356.3UniSTS
GeneMap99-G3 RH MapX1764.0UniSTS
RH99071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,486,914 - 65,487,089UniSTSGRCh37
Build 36X65,403,639 - 65,403,814RGDNCBI36
CeleraX65,834,424 - 65,834,599RGD
Cytogenetic MapXq11-q12UniSTS
HuRefX59,315,564 - 59,315,739UniSTS
GeneMap99-GB4 RH MapX212.99UniSTS
DXS1159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,421,002 - 65,421,154UniSTSGRCh37
Build 36X65,337,727 - 65,337,879RGDNCBI36
CeleraX65,768,519 - 65,768,671RGD
Cytogenetic MapXq11-q12UniSTS
HuRefX59,249,809 - 59,249,961UniSTS
G64132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,420,421 - 65,420,585UniSTSGRCh37
Build 36X65,337,146 - 65,337,310RGDNCBI36
CeleraX65,767,938 - 65,768,102RGD
Cytogenetic MapXq11-q12UniSTS
HuRefX59,249,314 - 59,249,478UniSTS
G64106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,469,746 - 65,469,860UniSTSGRCh37
Build 36X65,386,471 - 65,386,585RGDNCBI36
CeleraX65,817,258 - 65,817,372RGD
Cytogenetic MapXq11-q12UniSTS
HuRefX59,298,772 - 59,298,886UniSTS
HEPH__6713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,486,498 - 65,487,340UniSTSGRCh37
Build 36X65,403,223 - 65,404,065RGDNCBI36
CeleraX65,834,008 - 65,834,850RGD
HuRefX59,315,148 - 59,315,990UniSTS
AL031099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,471,457 - 65,471,593UniSTSGRCh37
Build 36X65,388,182 - 65,388,318RGDNCBI36
CeleraX65,818,969 - 65,819,105RGD
Cytogenetic MapXq11-q12UniSTS
HuRefX59,300,484 - 59,300,620UniSTS
HEPH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X65,486,315 - 65,486,493UniSTSGRCh37
CeleraX65,833,825 - 65,834,003UniSTS
HuRefX59,314,965 - 59,315,143UniSTS
DXS1194  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq11-q12UniSTS
Marshfield Genetic MapX52.5UniSTS
Genethon Genetic MapX87.6UniSTS
GeneMap99-GB4 RH MapX212.68UniSTS
Whitehead-RH MapX147.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3305
Count of miRNA genes:847
Interacting mature miRNAs:990
Transcripts:ENST00000336279, ENST00000343002, ENST00000374727, ENST00000419594, ENST00000425114, ENST00000429547, ENST00000441993, ENST00000458621, ENST00000471121, ENST00000519389
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 2064 1637 324 8 250 10 1577 883 978 82 614 554 212 1204
Low 335 614 1261 490 703 327 2106 643 2703 277 735 840 165 1 992 977 3 2
Below cutoff 14 709 119 111 781 110 631 639 23 26 28 45 3 607 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF075034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF148860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ296162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL030998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP282214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN361718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ496100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336279   ⟹   ENSP00000337418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,164,267 - 66,267,386 (+)Ensembl
RefSeq Acc Id: ENST00000343002   ⟹   ENSP00000343939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,169,907 - 66,267,385 (+)Ensembl
RefSeq Acc Id: ENST00000419594   ⟹   ENSP00000413211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,164,365 - 66,267,346 (+)Ensembl
RefSeq Acc Id: ENST00000425114   ⟹   ENSP00000398078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,170,546 - 66,208,246 (+)Ensembl
RefSeq Acc Id: ENST00000429547   ⟹   ENSP00000392319
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,164,298 - 66,172,428 (+)Ensembl
RefSeq Acc Id: ENST00000441993   ⟹   ENSP00000411687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,164,359 - 66,267,383 (+)Ensembl
RefSeq Acc Id: ENST00000458621   ⟹   ENSP00000396907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,164,270 - 66,173,800 (+)Ensembl
RefSeq Acc Id: ENST00000471121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,200,452 - 66,208,261 (+)Ensembl
RefSeq Acc Id: ENST00000519389   ⟹   ENSP00000430620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX66,162,549 - 66,268,867 (+)Ensembl
RefSeq Acc Id: NM_001130860   ⟹   NP_001124332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,267,389 (+)NCBI
GRCh37X65,382,433 - 65,487,231 (+)ENTREZGENE
HuRefX59,210,984 - 59,315,881 (+)NCBI
CHM1_1X65,276,909 - 65,380,018 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282141   ⟹   NP_001269070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
HuRefX59,210,984 - 59,315,881 (+)NCBI
CHM1_1X65,276,909 - 65,380,018 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367232   ⟹   NP_001354161
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
RefSeq Acc Id: NM_001367233   ⟹   NP_001354162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
RefSeq Acc Id: NM_001367234   ⟹   NP_001354163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,167,750 - 66,267,389 (+)NCBI
RefSeq Acc Id: NM_001367236   ⟹   NP_001354165
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
RefSeq Acc Id: NM_001367238   ⟹   NP_001354167
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
RefSeq Acc Id: NM_001367239   ⟹   NP_001354168
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,267,389 (+)NCBI
RefSeq Acc Id: NM_001367240   ⟹   NP_001354169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
RefSeq Acc Id: NM_001367241   ⟹   NP_001354170
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,267,389 (+)NCBI
RefSeq Acc Id: NM_001367242   ⟹   NP_001354171
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
RefSeq Acc Id: NM_001367243   ⟹   NP_001354172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
RefSeq Acc Id: NM_014799   ⟹   NP_055614
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
GRCh37X65,382,433 - 65,487,231 (+)ENTREZGENE
Build 36X65,300,834 - 65,403,956 (+)NCBI Archive
HuRefX59,210,984 - 59,315,881 (+)NCBI
CHM1_1X65,276,909 - 65,380,018 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138737   ⟹   NP_620074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,162,671 - 66,268,863 (+)NCBI
GRCh37X65,382,433 - 65,487,231 (+)ENTREZGENE
Build 36X65,299,388 - 65,403,956 (+)NCBI Archive
HuRefX59,210,984 - 59,315,881 (+)NCBI
CHM1_1X65,275,228 - 65,380,018 (+)NCBI
Sequence:
RefSeq Acc Id: NR_159800
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,267,389 (+)NCBI
RefSeq Acc Id: NR_159801
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
RefSeq Acc Id: NR_159802
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,268,863 (+)NCBI
RefSeq Acc Id: XM_011531073   ⟹   XP_011529375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,162,526 - 66,266,855 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531074   ⟹   XP_011529376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,162,527 - 66,267,389 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531075   ⟹   XP_011529377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,162,527 - 66,267,389 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029998   ⟹   XP_016885487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,162,526 - 66,267,383 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001124332 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354161 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354162 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354163 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354165 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354167 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354168 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354169 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354170 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354171 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354172 (Get FASTA)   NCBI Sequence Viewer  
  NP_055614 (Get FASTA)   NCBI Sequence Viewer  
  NP_620074 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529375 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529376 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529377 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885487 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH11561 (Get FASTA)   NCBI Sequence Viewer  
  AAK08131 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89349 (Get FASTA)   NCBI Sequence Viewer  
  ABF47089 (Get FASTA)   NCBI Sequence Viewer  
  BAA31673 (Get FASTA)   NCBI Sequence Viewer  
  BAG57564 (Get FASTA)   NCBI Sequence Viewer  
  BAG58390 (Get FASTA)   NCBI Sequence Viewer  
  BAH14602 (Get FASTA)   NCBI Sequence Viewer  
  CAC35365 (Get FASTA)   NCBI Sequence Viewer  
  EAX05384 (Get FASTA)   NCBI Sequence Viewer  
  EAX05385 (Get FASTA)   NCBI Sequence Viewer  
  EAX05386 (Get FASTA)   NCBI Sequence Viewer  
  EAX05387 (Get FASTA)   NCBI Sequence Viewer  
  EAX05388 (Get FASTA)   NCBI Sequence Viewer  
  Q9BQS7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_620074   ⟸   NM_138737
- Peptide Label: isoform a
- UniProtKB: Q9BQS7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124332   ⟸   NM_001130860
- Peptide Label: isoform c precursor
- UniProtKB: Q9BQS7 (UniProtKB/Swiss-Prot),   A0A0C4DG76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055614   ⟸   NM_014799
- Peptide Label: isoform b
- UniProtKB: Q9BQS7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269070   ⟸   NM_001282141
- Peptide Label: isoform d precursor
- UniProtKB: Q9BQS7 (UniProtKB/Swiss-Prot),   E7ES21 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529375   ⟸   XM_011531073
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529377   ⟸   XM_011531075
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011529376   ⟸   XM_011531074
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885487   ⟸   XM_017029998
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001354161   ⟸   NM_001367232
- Peptide Label: isoform e precursor
RefSeq Acc Id: NP_001354171   ⟸   NM_001367242
- Peptide Label: isoform b
RefSeq Acc Id: NP_001354162   ⟸   NM_001367233
- Peptide Label: isoform e precursor
RefSeq Acc Id: NP_001354169   ⟸   NM_001367240
- Peptide Label: isoform i precursor
RefSeq Acc Id: NP_001354167   ⟸   NM_001367238
- Peptide Label: isoform g precursor
RefSeq Acc Id: NP_001354172   ⟸   NM_001367243
- Peptide Label: isoform k precursor
RefSeq Acc Id: NP_001354165   ⟸   NM_001367236
- Peptide Label: isoform f precursor
RefSeq Acc Id: NP_001354170   ⟸   NM_001367241
- Peptide Label: isoform j precursor
RefSeq Acc Id: NP_001354168   ⟸   NM_001367239
- Peptide Label: isoform h precursor
RefSeq Acc Id: NP_001354163   ⟸   NM_001367234
- Peptide Label: isoform e precursor
RefSeq Acc Id: ENSP00000398078   ⟸   ENST00000425114
RefSeq Acc Id: ENSP00000430620   ⟸   ENST00000519389
RefSeq Acc Id: ENSP00000337418   ⟸   ENST00000336279
RefSeq Acc Id: ENSP00000392319   ⟸   ENST00000429547
RefSeq Acc Id: ENSP00000411687   ⟸   ENST00000441993
RefSeq Acc Id: ENSP00000396907   ⟸   ENST00000458621
RefSeq Acc Id: ENSP00000413211   ⟸   ENST00000419594
RefSeq Acc Id: ENSP00000343939   ⟸   ENST00000343002
Protein Domains
Plastocyanin-like

Promoters
RGD ID:6808912
Promoter ID:HG_KWN:67075
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000056994
Position:
Human AssemblyChrPosition (strand)Source
Build 36X65,298,911 - 65,299,411 (+)MPROMDB
RGD ID:6808910
Promoter ID:HG_KWN:67076
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000336279,   NM_001130860,   OTTHUMT00000056998,   OTTHUMT00000346500,   UC010NKR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X65,300,361 - 65,300,861 (+)MPROMDB
RGD ID:6808915
Promoter ID:HG_KWN:67077
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000056997,   UC004DWP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X65,307,026 - 65,307,526 (+)MPROMDB
RGD ID:6808914
Promoter ID:HG_KWN:67078
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000346501
Position:
Human AssemblyChrPosition (strand)Source
Build 36X65,336,836 - 65,337,336 (+)MPROMDB
RGD ID:6808916
Promoter ID:HG_KWN:67079
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC010NKS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X65,339,836 - 65,340,336 (+)MPROMDB
RGD ID:13627323
Promoter ID:EPDNEW_H28937
Type:initiation region
Name:HEPH_4
Description:hephaestin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28939  EPDNEW_H28938  EPDNEW_H28940  EPDNEW_H28941  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,162,505 - 66,162,565EPDNEW
RGD ID:13627325
Promoter ID:EPDNEW_H28938
Type:initiation region
Name:HEPH_3
Description:hephaestin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28939  EPDNEW_H28937  EPDNEW_H28940  EPDNEW_H28941  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,162,671 - 66,162,731EPDNEW
RGD ID:13627321
Promoter ID:EPDNEW_H28939
Type:initiation region
Name:HEPH_1
Description:hephaestin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28937  EPDNEW_H28938  EPDNEW_H28940  EPDNEW_H28941  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,247 - 66,164,307EPDNEW
RGD ID:13627327
Promoter ID:EPDNEW_H28940
Type:initiation region
Name:HEPH_2
Description:hephaestin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28939  EPDNEW_H28937  EPDNEW_H28938  EPDNEW_H28941  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,164,376 - 66,164,436EPDNEW
RGD ID:13627329
Promoter ID:EPDNEW_H28941
Type:initiation region
Name:HEPH_5
Description:hephaestin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28939  EPDNEW_H28937  EPDNEW_H28938  EPDNEW_H28940  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X66,169,901 - 66,169,961EPDNEW

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_014799.3(HEPH):c.1763-21635T>C single nucleotide variant Lung cancer [RCV000102714] ChrX:66233400 [GRCh38]
ChrX:65453242 [GRCh37]
ChrX:Xq12
uncertain significance
NM_014799.3(HEPH):c.1763-1624C>T single nucleotide variant Lung cancer [RCV000102715] ChrX:66253411 [GRCh38]
ChrX:65473253 [GRCh37]
ChrX:Xq12
uncertain significance
NM_014799.3(HEPH):c.2398+1237C>T single nucleotide variant Lung cancer [RCV000102716] ChrX:66261499 [GRCh38]
ChrX:65481341 [GRCh37]
ChrX:Xq12
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 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 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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
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 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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
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
NM_014799.3(HEPH):c.483C>T (p.Tyr161=) single nucleotide variant Malignant melanoma [RCV000073238] ChrX:66193553 [GRCh38]
ChrX:65413395 [GRCh37]
ChrX:65330120 [NCBI36]
ChrX:Xq12
not provided
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: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 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: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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
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 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
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 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 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
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 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xq12(chrX:66077618-67113715)x3 copy number gain See cases [RCV000138066] ChrX:66077618..67113715 [GRCh38]
ChrX:65297460..66333557 [GRCh37]
ChrX:65214185..66250282 [NCBI36]
ChrX:Xq12
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
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 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 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-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xq12(chrX:66049830-66301774)x1 copy number loss See cases [RCV000139040] ChrX:66049830..66301774 [GRCh38]
ChrX:65269672..65521616 [GRCh37]
ChrX:65186397..65438341 [NCBI36]
ChrX:Xq12
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 Xq12(chrX:65901792-66733457)x2 copy number gain See cases [RCV000141544] ChrX:65901792..66733457 [GRCh38]
ChrX:65121634..65953299 [GRCh37]
ChrX:65038359..65870024 [NCBI36]
ChrX:Xq12
uncertain significance
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
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 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 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xq12(chrX:66069949-67124285)x2 copy number gain See cases [RCV000143736] ChrX:66069949..67124285 [GRCh38]
ChrX:65289791..66344127 [GRCh37]
ChrX:65206516..66260852 [NCBI36]
ChrX:Xq12
uncertain significance
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3 copy number gain See cases [RCV000239973] ChrX:64927267..69276852 [GRCh37]
ChrX:Xq12-13.1
uncertain significance
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 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
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 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..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 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
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 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
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 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 Xq12(chrX:65057519-66020568)x3 copy number gain See cases [RCV000447036] ChrX:65057519..66020568 [GRCh37]
ChrX:Xq12
uncertain significance
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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
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 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
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 Xq12(chrX:65461088-66523361)x2 copy number gain not provided [RCV000684340] ChrX:65461088..66523361 [GRCh37]
ChrX:Xq12
likely benign
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
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 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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 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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_014799.4(HEPH):c.1307G>A (p.Ser436Asn) single nucleotide variant not provided [RCV000880359] ChrX:66203394 [GRCh38]
ChrX:65423236 [GRCh37]
ChrX:Xq12
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 copy number loss not provided [RCV000849932] ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_014799.4(HEPH):c.895G>A (p.Gly299Ser) single nucleotide variant not provided [RCV000953117] ChrX:66197877 [GRCh38]
ChrX:65417719 [GRCh37]
ChrX:Xq12
benign
GRCh37/hg19 Xq12(chrX:65255929-65894285)x3 copy number gain not provided [RCV001259000] ChrX:65255929..65894285 [GRCh37]
ChrX:Xq12
likely benign
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 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:4866 AgrOrtholog
COSMIC HEPH COSMIC
Ensembl Genes ENSG00000089472 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000337418 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000343939 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392319 UniProtKB/TrEMBL
  ENSP00000396907 UniProtKB/TrEMBL
  ENSP00000398078 UniProtKB/TrEMBL
  ENSP00000411687 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000413211 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000430620 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000336279 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000343002 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419594 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000425114 UniProtKB/TrEMBL
  ENST00000429547 UniProtKB/TrEMBL
  ENST00000441993 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000458621 UniProtKB/TrEMBL
  ENST00000519389 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000089472 GTEx
HGNC ID HGNC:4866 ENTREZGENE
Human Proteome Map HEPH Human Proteome Map
InterPro Cu-oxidase_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu-oxidase_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_oxidase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu_oxidase_Cu_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cupredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9843 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9843 ENTREZGENE
OMIM 300167 OMIM
PANTHER PTHR11709:SF221 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cu-oxidase_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu-oxidase_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29241 PharmGKB
PROSITE MULTICOPPER_OXIDASE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MULTICOPPER_OXIDASE2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49503 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DG76 ENTREZGENE, UniProtKB/TrEMBL
  E7ES21 ENTREZGENE, UniProtKB/TrEMBL
  F8WBZ8_HUMAN UniProtKB/TrEMBL
  HEPH_HUMAN UniProtKB/Swiss-Prot
  Q1HE23_HUMAN UniProtKB/TrEMBL
  Q5JZ07_HUMAN UniProtKB/TrEMBL
  Q5JZ08_HUMAN UniProtKB/TrEMBL
  Q9BQS7 ENTREZGENE
UniProt Secondary B1AJX8 UniProtKB/Swiss-Prot
  D3DVT7 UniProtKB/Swiss-Prot
  E9PHN8 UniProtKB/Swiss-Prot
  O75180 UniProtKB/Swiss-Prot
  Q6UW45 UniProtKB/Swiss-Prot
  Q9C058 UniProtKB/Swiss-Prot