EBP (EBP cholestenol delta-isomerase) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: EBP (EBP cholestenol delta-isomerase) Homo sapiens
Analyze
Symbol: EBP
Name: EBP cholestenol delta-isomerase
RGD ID: 1345811
HGNC Page HGNC
Description: Exhibits identical protein binding activity and steroid delta-isomerase activity. Involved in cholesterol biosynthetic process. Localizes to endoplasmic reticulum and nuclear envelope. Implicated in MEND syndrome; X-linked chondrodysplasia punctata 2; and chondrodysplasia punctata.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 3-beta-hydroxysteroid-delta-8,delta-7-isomerase; CDPX2; CHO2; cholestenol Delta-isomerase; Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome); CPX; CPXD; D8-D7 sterol isomerase; delta(8)-Delta(7) sterol isomerase; EBP, cholestenol delta-isomerase; emopamil binding protein (sterol isomerase); emopamil-binding protein (sterol isomerase); MEND; sterol 8-isomerase
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 EnsemblX48,521,799 - 48,528,716 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,521,808 - 48,528,716 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,380,196 - 48,387,104 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X48,379,306 - 48,387,104 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,265,201 - 48,272,048 (+)NCBINCBI36hg18NCBI36
Build 34X48,136,510 - 48,143,356NCBI
CeleraX53,278,627 - 53,285,567 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,043,290 - 46,050,391 (+)NCBIHuRef
CHM1_1X48,411,425 - 48,418,366 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
arachidonic acid  (EXP)
avobenzone  (EXP)
benzalkonium chloride  (EXP)
benzo[a]pyrene  (EXP)
bicalutamide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Butylbenzyl phthalate  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cerium trichloride  (ISO)
chlordecone  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (ISO)
dibutyl phthalate  (ISO)
dichloromethane  (ISO)
diethyl phthalate  (ISO)
dipentyl phthalate  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
Erionite  (ISO)
ethyl methanesulfonate  (EXP)
flusilazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (EXP)
isobutanol  (EXP)
isotretinoin  (EXP)
ketamine  (ISO)
methyl methanesulfonate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
nefazodone  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
progesterone  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
tolcapone  (ISO)
triacsin C  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
Yessotoxin  (EXP)
zoledronic acid  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal auditory evoked potentials  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal social behavior  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of epiphysis morphology  (IAGP)
Abnormality of hair texture  (IAGP)
Abnormality of pelvic girdle bone morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the pinna  (IAGP)
Aggressive behavior  (IAGP)
Alopecia  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Asymmetry of the mouth  (IAGP)
Bilateral talipes equinovarus  (IAGP)
Broad hallux  (IAGP)
Calcific stippling  (IAGP)
Cataract  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Concave nasal ridge  (IAGP)
Congenital ichthyosiform erythroderma  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Downslanted palpebral fissures  (IAGP)
Edema  (IAGP)
Elevated 8(9)-cholestenol  (IAGP)
Elevated 8-dehydrocholesterol  (IAGP)
Epicanthus  (IAGP)
Epiphyseal stippling  (IAGP)
Erythema  (IAGP)
Erythroderma  (IAGP)
Failure to thrive  (IAGP)
Flat face  (IAGP)
Foot polydactyly  (IAGP)
Frontal bossing  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Hearing impairment  (IAGP)
Hemiatrophy  (IAGP)
Hemivertebrae  (IAGP)
High palate  (IAGP)
Hip dysplasia  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperactivity  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Ichthyosis  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Joint dislocation  (IAGP)
Kyphosis  (IAGP)
Limb hypertonia  (IAGP)
Long fingers  (IAGP)
Long neck  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Microretrognathia  (IAGP)
Midface retrusion  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Overlapping fingers  (IAGP)
Overlapping toe  (IAGP)
Patellar dislocation  (IAGP)
Polydactyly  (IAGP)
Polyhydramnios  (IAGP)
Postaxial polydactyly  (IAGP)
Postnatal growth retardation  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Punctate vertebral calcifications  (IAGP)
Rhizomelia  (IAGP)
Sacral dimple  (IAGP)
Scarring alopecia of scalp  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Sparse and thin eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Spotty hypopigmentation  (IAGP)
Stippled calcification in carpal bones  (IAGP)
Talipes equinovarus  (IAGP)
Tarsal stippling  (IAGP)
Telecanthus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Tracheal calcification  (IAGP)
Tracheal stenosis  (IAGP)
Upslanted palpebral fissure  (IAGP)
Variable expressivity  (IAGP)
Wide anterior fontanel  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7706302   PMID:8938429   PMID:9894009   PMID:10391219   PMID:10406945   PMID:10942423   PMID:11038443   PMID:11493318   PMID:12477932   PMID:12483303   PMID:12509714   PMID:12569389  
PMID:12760743   PMID:15489334   PMID:15604093   PMID:15772651   PMID:16344560   PMID:17378690   PMID:17498944   PMID:17949453   PMID:18029348   PMID:18573709   PMID:18660489   PMID:19322201  
PMID:21103663   PMID:21634086   PMID:21832049   PMID:21873635   PMID:21931045   PMID:21988832   PMID:22121851   PMID:22658674   PMID:24106871   PMID:24459067   PMID:24493593   PMID:24700572  
PMID:24915996   PMID:25659154   PMID:25910212   PMID:25959826   PMID:26186194   PMID:26496610   PMID:26514267   PMID:26638075   PMID:26972000   PMID:27173435   PMID:28380382   PMID:28514442  
PMID:28597972   PMID:28685749   PMID:29180619   PMID:29507755   PMID:30021884   PMID:31056421   PMID:31165728   PMID:31381990   PMID:32105736   PMID:32296183  


Genomics

Comparative Map Data
EBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,521,799 - 48,528,716 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,521,808 - 48,528,716 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,380,196 - 48,387,104 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X48,379,306 - 48,387,104 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,265,201 - 48,272,048 (+)NCBINCBI36hg18NCBI36
Build 34X48,136,510 - 48,143,356NCBI
CeleraX53,278,627 - 53,285,567 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,043,290 - 46,050,391 (+)NCBIHuRef
CHM1_1X48,411,425 - 48,418,366 (+)NCBICHM1_1
Ebp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X8,051,568 - 8,059,751 (-)NCBIGRCm39mm39
GRCm38X8,185,329 - 8,193,512 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX8,185,329 - 8,193,512 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,762,457 - 7,770,638 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X7,342,290 - 7,350,471 (-)NCBImm8
CeleraX3,276,541 - 3,284,699 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.7NCBI
Ebp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,299,427 - 14,305,826 (+)NCBI
Rnor_6.0 EnsemblX15,049,462 - 15,055,781 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,049,394 - 15,055,782 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X15,832,710 - 15,839,093 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,331,199 - 26,337,542 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X26,384,667 - 26,391,010 (+)NCBI
CeleraX14,384,941 - 14,391,269 (+)NCBICelera
Cytogenetic MapXq12NCBI
Ebp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495554392,553 - 98,370 (+)NCBIChiLan1.0ChiLan1.0
EBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X48,683,531 - 48,690,829 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X40,820,042 - 40,826,957 (+)NCBIMhudiblu_PPA_v0panPan3
EBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblX41,762,692 - 41,779,476 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1X41,774,857 - 41,779,474 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ebp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936721508,716 - 515,968 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X42,670,592 - 42,678,571 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,619,482 - 47,627,465 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103231927
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X45,652,398 - 45,660,551 (+)NCBI
ChlSab1.1 EnsemblX45,653,356 - 45,660,291 (+)Ensembl
Ebp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893340,843 - 346,560 (+)NCBI

Position Markers
SGC38390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,380,702 - 48,380,978UniSTSGRCh37
Build 36X48,265,646 - 48,265,922RGDNCBI36
CeleraX53,284,753 - 53,285,029RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,043,828 - 46,044,104UniSTS
GeneMap99-GB4 RH MapX139.21UniSTS
Whitehead-RH MapX70.4UniSTS
NCBI RH MapX268.1UniSTS
RH46098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,380,810 - 48,380,978UniSTSGRCh37
Build 36X48,265,754 - 48,265,922RGDNCBI36
CeleraX53,284,753 - 53,284,921RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,043,936 - 46,044,104UniSTS
GeneMap99-GB4 RH MapX139.21UniSTS
NCBI RH MapX268.1UniSTS
RH36014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,386,828 - 48,387,043UniSTSGRCh37
Build 36X48,271,772 - 48,271,987RGDNCBI36
CeleraX53,278,688 - 53,278,903RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,050,115 - 46,050,330UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
NCBI RH MapX197.4UniSTS
RH93495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,386,766 - 48,386,899UniSTSGRCh37
Build 36X48,271,710 - 48,271,843RGDNCBI36
CeleraX53,278,832 - 53,278,965RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,050,053 - 46,050,186UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
DXS7465E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,378,935 - 48,379,045UniSTSGRCh37
Build 36X48,263,879 - 48,263,989RGDNCBI36
CeleraX53,286,686 - 53,286,796RGD
Cytogenetic MapXp11.23-p11.22UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX46,042,061 - 46,042,171UniSTS
RH16246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,382,191 - 48,382,318UniSTSGRCh37
Build 36X48,267,135 - 48,267,262RGDNCBI36
CeleraX53,283,413 - 53,283,540RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,045,292 - 46,045,419UniSTS
GeneMap99-GB4 RH MapX142.51UniSTS
NCBI RH MapX197.4UniSTS
EBP_9167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,386,696 - 48,387,137UniSTSGRCh37
Build 36X48,271,640 - 48,272,081RGDNCBI36
CeleraX53,278,594 - 53,279,035RGD
HuRefX46,049,983 - 46,050,424UniSTS
RH17606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,378,765 - 48,378,920UniSTSGRCh37
Build 36X48,263,709 - 48,263,864RGDNCBI36
CeleraX53,286,811 - 53,286,966RGD
Cytogenetic MapXp11.23-p11.22UniSTS
Cytogenetic MapXp11.23UniSTS
HuRefX46,041,891 - 46,042,046UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
NCBI RH MapX198.6UniSTS
SHGC-34488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,382,141 - 48,382,290UniSTSGRCh37
Build 36X48,267,085 - 48,267,234RGDNCBI36
CeleraX53,283,441 - 53,283,590RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX46,045,242 - 46,045,391UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
Whitehead-RH MapX71.7UniSTS
NCBI RH MapX198.6UniSTS
PORCN_3674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,378,838 - 48,379,324UniSTSGRCh37
Build 36X48,263,782 - 48,264,268RGDNCBI36
CeleraX53,286,407 - 53,286,893RGD
HuRefX46,041,964 - 46,042,450UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1459
Count of miRNA genes:777
Interacting mature miRNAs:906
Transcripts:ENST00000276096, ENST00000414061, ENST00000446158, ENST00000466461, ENST00000495186, ENST00000498425
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
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 2005 1802 1713 621 1541 464 3073 961 2545 407 1407 1600 171 883 1614 4
Low 434 1189 13 3 410 1 1284 1236 1189 12 53 13 4 1 321 1174 2 2
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000276096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,521,799 - 48,528,710 (+)Ensembl
RefSeq Acc Id: ENST00000414061   ⟹   ENSP00000405832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,521,869 - 48,527,253 (+)Ensembl
RefSeq Acc Id: ENST00000446158   ⟹   ENSP00000390031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,521,856 - 48,528,245 (+)Ensembl
RefSeq Acc Id: ENST00000466461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,526,849 - 48,527,671 (+)Ensembl
RefSeq Acc Id: ENST00000495186   ⟹   ENSP00000417052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,521,808 - 48,528,716 (+)Ensembl
RefSeq Acc Id: ENST00000498425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,521,805 - 48,528,439 (+)Ensembl
RefSeq Acc Id: NM_006579   ⟹   NP_006570
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,521,808 - 48,528,716 (+)NCBI
GRCh37X48,379,306 - 48,387,104 (+)NCBI
Build 36X48,265,201 - 48,272,048 (+)NCBI Archive
HuRefX46,043,290 - 46,050,391 (+)ENTREZGENE
CHM1_1X48,411,425 - 48,418,366 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006570   ⟸   NM_006579
- UniProtKB: Q15125 (UniProtKB/Swiss-Prot),   A0A024QYX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000405832   ⟸   ENST00000414061
RefSeq Acc Id: ENSP00000417052   ⟸   ENST00000495186
RefSeq Acc Id: ENSP00000390031   ⟸   ENST00000446158
Protein Domains
EXPERA

Promoters
RGD ID:6808642
Promoter ID:HG_KWN:66676
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000083369,   OTTHUMT00000083370,   OTTHUMT00000083372,   OTTHUMT00000144533,   UC004DJY.2,   UC004DJZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,264,981 - 48,265,502 (+)MPROMDB
RGD ID:6808641
Promoter ID:HG_KWN:66677
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000144534
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,270,089 - 48,270,589 (+)MPROMDB
RGD ID:13605220
Promoter ID:EPDNEW_H28794
Type:initiation region
Name:EBP_1
Description:emopamil binding protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,523,731 - 48,523,791EPDNEW

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_006579.3(EBP):c.650C>T (p.Thr217Met) single nucleotide variant not specified [RCV000727892] ChrX:48528414 [GRCh38]
ChrX:48386802 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006579.3(EBP):c.87G>A (p.Trp29Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000012238] ChrX:48523858 [GRCh38]
ChrX:48382246 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.187C>T (p.Arg63Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000012239] ChrX:48523958 [GRCh38]
ChrX:48382346 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000012240] ChrX:48524009 [GRCh38]
ChrX:48382397 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.338+1G>T single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000012241] ChrX:48527026 [GRCh38]
ChrX:48385414 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.390del (p.Pro131fs) deletion Chondrodysplasia punctata 2 X-linked dominant [RCV000012242] ChrX:48527206 [GRCh38]
ChrX:48385594 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.586_587insA (p.Trp196Ter) insertion Chondrodysplasia punctata 2 X-linked dominant [RCV000012243] ChrX:48528350..48528351 [GRCh38]
ChrX:48386738..48386739 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.386G>A (p.Trp129Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000012244] ChrX:48527202 [GRCh38]
ChrX:48385590 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.523C>T (p.Gln175Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000012245] ChrX:48528287 [GRCh38]
ChrX:48386675 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.587G>A (p.Trp196Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000012246] ChrX:48528351 [GRCh38]
ChrX:48386739 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.440G>A (p.Arg147His) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000012247] ChrX:48527256 [GRCh38]
ChrX:48385644 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.53T>C (p.Leu18Pro) single nucleotide variant MEND syndrome [RCV000012248] ChrX:48523824 [GRCh38]
ChrX:48382212 [GRCh37]
ChrX:Xp11.23
pathogenic
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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
NM_006579.3(EBP):c.141G>T (p.Trp47Cys) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145922]|MEND syndrome [RCV000190980] ChrX:48523912 [GRCh38]
ChrX:48382300 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.15G>T (p.Ala5=) single nucleotide variant not specified [RCV000145923] ChrX:48523786 [GRCh38]
ChrX:48382174 [GRCh37]
ChrX:Xp11.23
benign
NM_006579.3(EBP):c.182G>A (p.Trp61Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145924] ChrX:48523953 [GRCh38]
ChrX:48382341 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.204G>T (p.Trp68Cys) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145925] ChrX:48523975 [GRCh38]
ChrX:48382363 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.214T>C (p.Cys72Arg) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145926] ChrX:48523985 [GRCh38]
ChrX:48382373 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.218G>A (p.Gly73Glu) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145927] ChrX:48523989 [GRCh38]
ChrX:48382377 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.292_296del (p.Ser98fs) deletion Chondrodysplasia punctata 2 X-linked dominant [RCV000145928] ChrX:48524062..48524066 [GRCh38]
ChrX:48382450..48382454 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.299T>C (p.Leu100Pro) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145929] ChrX:48524070 [GRCh38]
ChrX:48382458 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.301+2T>A single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145930] ChrX:48524074 [GRCh38]
ChrX:48382462 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.303G>T (p.Trp101Cys) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145931] ChrX:48526990 [GRCh38]
ChrX:48385378 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.304A>T (p.Lys102Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145932] ChrX:48526991 [GRCh38]
ChrX:48385379 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.310T>C (p.Tyr104His) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145933] ChrX:48526997 [GRCh38]
ChrX:48385385 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145934] ChrX:48526998 [GRCh38]
ChrX:48385386 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.314C>A (p.Ala105Asp) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145935] ChrX:48527001 [GRCh38]
ChrX:48385389 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.320G>A (p.Gly107Glu) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145936] ChrX:48527007 [GRCh38]
ChrX:48385395 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.328C>T (p.Arg110Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145937] ChrX:48527015 [GRCh38]
ChrX:48385403 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.331T>C (p.Tyr111His) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145938] ChrX:48527018 [GRCh38]
ChrX:48385406 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.382C>T (p.Leu128=) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145939]|not provided [RCV000882695]|not specified [RCV000594172] ChrX:48527198 [GRCh38]
ChrX:48385586 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_006579.3(EBP):c.462_463CT[1] (p.Ser155fs) microsatellite Chondrodysplasia punctata 2 X-linked dominant [RCV000145940] ChrX:48527277..48527278 [GRCh38]
ChrX:48385665..48385666 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145941] ChrX:48528244 [GRCh38]
ChrX:48386632 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.481G>A (p.Gly161Arg) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145942] ChrX:48528245 [GRCh38]
ChrX:48386633 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145943]|not provided [RCV000171436]|not specified [RCV000439113] ChrX:48528275 [GRCh38]
ChrX:48386663 [GRCh37]
ChrX:Xp11.23
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_006579.3(EBP):c.527A>G (p.His176Arg) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145944] ChrX:48528291 [GRCh38]
ChrX:48386679 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.632T>G (p.Leu211Arg) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000145945] ChrX:48528396 [GRCh38]
ChrX:48386784 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.684_686GAA[1] (p.Lys229del) microsatellite Chondrodysplasia punctata 2 X-linked dominant [RCV000145946] ChrX:48528446..48528448 [GRCh38]
ChrX:48386834..48386836 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 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 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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
NM_006579.3(EBP):c.13G>A (p.Ala5Thr) single nucleotide variant not specified [RCV000203041] ChrX:48523784 [GRCh38]
ChrX:48382172 [GRCh37]
ChrX:Xp11.23
benign
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
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 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
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 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
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 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
NM_006579.3(EBP):c.201_203dup (p.Cys67dup) duplication Chondrodysplasia punctata 2 X-linked dominant [RCV000192563] ChrX:48523969..48523970 [GRCh38]
ChrX:48382357..48382358 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly) indel Chondrodysplasia punctata 2 X-linked dominant [RCV000192822] ChrX:48527185..48527195 [GRCh38]
ChrX:48385573..48385583 [GRCh37]
ChrX:Xp11.23
likely pathogenic
EBP, TRP47CYS variation MEND SYNDROME [RCV000190980]|MEND syndrome [RCV000190980]   pathogenic
NM_006579.3(EBP):c.33C>A (p.Tyr11Ter) single nucleotide variant Chondrodysplasia punctata 2, X-linked dominant, atypical [RCV000190981] ChrX:48523804 [GRCh38]
ChrX:48382192 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.139T>C (p.Trp47Arg) single nucleotide variant MEND syndrome [RCV000190983] ChrX:48523910 [GRCh38]
ChrX:48382298 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.224T>A (p.Ile75Asn) single nucleotide variant MEND syndrome [RCV000190982] ChrX:48523995 [GRCh38]
ChrX:48382383 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) indel Chondrodysplasia punctata 2 X-linked dominant [RCV000193635] ChrX:48527239..48527243 [GRCh38]
ChrX:48385627..48385631 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_006579.3(EBP):c.225dup (p.His76fs) duplication Chondrodysplasia punctata 2 X-linked dominant [RCV000193764] ChrX:48523994..48523995 [GRCh38]
ChrX:48382382..48382383 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter) duplication Chondrodysplasia punctata 2 X-linked dominant [RCV000194606] ChrX:48527015..48527016 [GRCh38]
ChrX:48385403..48385404 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.484dup (p.Asp162fs) duplication Chondrodysplasia punctata 2 X-linked dominant [RCV000194874] ChrX:48528244..48528245 [GRCh38]
ChrX:48386632..48386633 [GRCh37]
ChrX:Xp11.23
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
NM_006579.3(EBP):c.439C>T (p.Arg147Cys) single nucleotide variant not provided [RCV000255335] ChrX:48527255 [GRCh38]
ChrX:48385643 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.512G>A (p.Arg171His) single nucleotide variant not provided [RCV000757204] ChrX:48528276 [GRCh38]
ChrX:48386664 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006579.3(EBP):c.445A>G (p.Ile149Val) single nucleotide variant not provided [RCV000757205] ChrX:48527261 [GRCh38]
ChrX:48385649 [GRCh37]
ChrX:Xp11.23
likely benign
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 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-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: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 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006579.3(EBP):c.301+5G>C single nucleotide variant not specified [RCV000254310] ChrX:48524077 [GRCh38]
ChrX:48382465 [GRCh37]
ChrX:Xp11.23
likely benign
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 Xp11.23(chrX:48336513-48554390)x2 copy number gain See cases [RCV000240388] ChrX:48336513..48554390 [GRCh37]
ChrX:Xp11.23
uncertain significance
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
NM_006579.3(EBP):c.219G>A (p.Gly73=) single nucleotide variant not provided [RCV000585107] ChrX:48523990 [GRCh38]
ChrX:48382378 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006579.3(EBP):c.-43del deletion not specified [RCV000599703] ChrX:48523712 [GRCh38]
ChrX:48382100 [GRCh37]
ChrX:Xp11.23
benign
NM_006579.3(EBP):c.419T>G (p.Phe140Cys) single nucleotide variant not provided [RCV000722921] ChrX:48527235 [GRCh38]
ChrX:48385623 [GRCh37]
ChrX:Xp11.23
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
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 Xp11.23(chrX:48300928-48578333)x3 copy number gain See cases [RCV000447325] ChrX:48300928..48578333 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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
NM_006579.3(EBP):c.-19G>A single nucleotide variant not specified [RCV000434734] ChrX:48523753 [GRCh38]
ChrX:48382141 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_006579.3(EBP):c.-49T>C single nucleotide variant not specified [RCV000437590] ChrX:48523723 [GRCh38]
ChrX:48382111 [GRCh37]
ChrX:Xp11.23
likely benign
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
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 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006579.3(EBP):c.128_140del (p.Val43fs) deletion not provided [RCV000487135] ChrX:48523898..48523910 [GRCh38]
ChrX:48382286..48382298 [GRCh37]
ChrX:Xp11.23
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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
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
NM_006579.3(EBP):c.-74+3G>C single nucleotide variant not specified [RCV000507998] ChrX:48521910 [GRCh38]
ChrX:48380298 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
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
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
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 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [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
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 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_006579.3(EBP):c.278A>G (p.Asp93Gly) single nucleotide variant not provided [RCV000762632] ChrX:48524049 [GRCh38]
ChrX:48382437 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006579.3(EBP):c.129C>T (p.Val43=) single nucleotide variant not provided [RCV000899660] ChrX:48523900 [GRCh38]
ChrX:48382288 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006579.3(EBP):c.336C>T (p.Ile112=) single nucleotide variant not provided [RCV000944637] ChrX:48527023 [GRCh38]
ChrX:48385411 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
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
NM_006579.3(EBP):c.435C>T (p.Pro145=) single nucleotide variant not provided [RCV000978398] ChrX:48527251 [GRCh38]
ChrX:48385639 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006579.3(EBP):c.282A>C (p.Gln94His) single nucleotide variant not provided [RCV000942566] ChrX:48524053 [GRCh38]
ChrX:48382441 [GRCh37]
ChrX:Xp11.23
benign
NM_006579.3(EBP):c.396C>A (p.Leu132=) single nucleotide variant not provided [RCV000894965] ChrX:48527212 [GRCh38]
ChrX:48385600 [GRCh37]
ChrX:Xp11.23
likely benign
NM_006579.3(EBP):c.414C>T (p.Ile138=) single nucleotide variant not provided [RCV000937852] ChrX:48527230 [GRCh38]
ChrX:48385618 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_006579.3(EBP):c.666C>T (p.Ala222=) single nucleotide variant not provided [RCV000891808] ChrX:48528430 [GRCh38]
ChrX:48386818 [GRCh37]
ChrX:Xp11.23
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
NM_006579.3(EBP):c.504_505AG[1] (p.Glu169fs) microsatellite Chondrodysplasia punctata 2 X-linked dominant [RCV000990809] ChrX:48528268..48528269 [GRCh38]
ChrX:48386656..48386657 [GRCh37]
ChrX:Xp11.23
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:48182541-48630992)x3 copy number gain not provided [RCV000848540] ChrX:48182541..48630992 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_006579.3(EBP):c.301+154C>T single nucleotide variant not provided [RCV000840424] ChrX:48524226 [GRCh38]
ChrX:48382614 [GRCh37]
ChrX:Xp11.23
benign
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000990808] ChrX:48524032 [GRCh38]
ChrX:48382420 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_006579.3(EBP):c.329G>A (p.Arg110Gln) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV000995763] ChrX:48527016 [GRCh38]
ChrX:48385404 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.564C>T (p.Tyr188=) single nucleotide variant not provided [RCV000913625] ChrX:48528328 [GRCh38]
ChrX:48386716 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_006579.3(EBP):c.188G>A (p.Arg63Gln) single nucleotide variant not specified [RCV001002375] ChrX:48523959 [GRCh38]
ChrX:48382347 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_006579.3(EBP):c.538G>A (p.Gly180Ser) single nucleotide variant not provided [RCV001058433] ChrX:48528302 [GRCh38]
ChrX:48386690 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23(chrX:48237630-48590047)x2 copy number gain not provided [RCV001007302] ChrX:48237630..48590047 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23(chrX:48225025-48601326)x1 copy number loss not provided [RCV001258949] ChrX:48225025..48601326 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.203G>A (p.Trp68Ter) single nucleotide variant Chondrodysplasia punctata 2 X-linked dominant [RCV001270857] ChrX:48523974 [GRCh38]
ChrX:48382362 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_006579.3(EBP):c.469G>A (p.Gly157Ser) single nucleotide variant not provided [RCV001269598] ChrX:48527285 [GRCh38]
ChrX:48385673 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3133 AgrOrtholog
COSMIC EBP COSMIC
Ensembl Genes ENSG00000147155 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000390031 UniProtKB/TrEMBL
  ENSP00000405832 UniProtKB/TrEMBL
  ENSP00000417052 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000414061 UniProtKB/TrEMBL
  ENST00000446158 UniProtKB/TrEMBL
  ENST00000495186 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147155 GTEx
HGNC ID HGNC:3133 ENTREZGENE
Human Proteome Map EBP Human Proteome Map
InterPro EBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EXPERA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10682 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10682 ENTREZGENE
OMIM 300205 OMIM
  300960 OMIM
  302960 OMIM
PANTHER PTHR14207 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27587 PharmGKB
PROSITE EXPERA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QYX0 ENTREZGENE, UniProtKB/TrEMBL
  C9J719_HUMAN UniProtKB/TrEMBL
  C9JJ78_HUMAN UniProtKB/TrEMBL
  EBP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q6FGL3 UniProtKB/Swiss-Prot
  Q6IBI9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 EBP  EBP cholestenol delta-isomerase  EBP  EBP, cholestenol delta-isomerase  Symbol and/or name change 5135510 APPROVED
2018-05-15 EBP  EBP, cholestenol delta-isomerase  EBP  emopamil binding protein (sterol isomerase)  Symbol and/or name change 5135510 APPROVED