EPHA1 (EPH receptor A1) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: EPHA1 (EPH receptor A1) Homo sapiens
Analyze
Symbol: EPHA1
Name: EPH receptor A1
RGD ID: 1312265
HGNC Page HGNC
Description: Exhibits protein kinase binding activity and transmembrane-ephrin receptor activity. Involved in several processes, including activation of GTPase activity; protein phosphorylation; and regulation of cell migration. Localizes to integral component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EPH; EPH tyrosine kinase; eph tyrosine kinase 1; ephrin type-A receptor 1; EPHT; EPHT1; erythropoietin-producing hepatoma amplified sequence; erythropoietin-producing hepatoma receptor; hEpha1; MGC163163; oncogene EPH; soluble EPHA1 variant 1; soluble EPHA1 variant 2; tyrosine-protein kinase receptor EPH
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 Ensembl7143,390,289 - 143,408,856 (-)EnsemblGRCh38hg38GRCh38
GRCh387143,390,813 - 143,408,865 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377143,088,205 - 143,105,985 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,798,327 - 142,816,107 (-)NCBINCBI36hg18NCBI36
Build 347142,605,042 - 142,622,822NCBI
Celera7137,925,469 - 137,943,251 (-)NCBI
Cytogenetic Map7q34-q35NCBI
HuRef7137,425,521 - 137,443,246 (-)NCBIHuRef
CHM1_17143,025,132 - 143,041,700 (-)NCBICHM1_1
CRA_TCAGchr7v27142,490,337 - 142,508,118 (-)NCBI
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
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
amphetamine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
benzopyran  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chrysene  (ISO)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
daidzein  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
fulvestrant  (EXP)
genistein  (EXP)
glycitein  (EXP)
gold atom  (ISO)
gold(0)  (ISO)
indole-3-methanol  (ISO)
methapyrilene  (EXP)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorononanoic acid  (EXP)
pirinixic acid  (ISO)
ponatinib  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
tunicamycin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2825356   PMID:8755474   PMID:9267020   PMID:9530499   PMID:9576626   PMID:10207129   PMID:10369740   PMID:10502115   PMID:10730216   PMID:11128993   PMID:11256076   PMID:11519828  
PMID:12477932   PMID:12775584   PMID:12853948   PMID:14968112   PMID:15146197   PMID:15761153   PMID:15951569   PMID:16344560   PMID:16737551   PMID:16862074   PMID:16964243   PMID:17980912  
PMID:18308734   PMID:18566674   PMID:18590698   PMID:18593464   PMID:18728013   PMID:18802966   PMID:18990944   PMID:19011600   PMID:19118217   PMID:19277044   PMID:19525919   PMID:19913121  
PMID:19949912   PMID:20043122   PMID:20628086   PMID:20804422   PMID:21042754   PMID:21460840   PMID:21460841   PMID:21503576   PMID:21873635   PMID:22261062   PMID:22362770   PMID:22688511  
PMID:22939624   PMID:23030051   PMID:23429488   PMID:24040450   PMID:24162737   PMID:25025847   PMID:25182741   PMID:25260751   PMID:25286141   PMID:25391265   PMID:25451169   PMID:26261568  
PMID:26977017   PMID:27533087   PMID:28065597   PMID:28514442   PMID:28739735   PMID:29117863   PMID:29332039   PMID:29393455   PMID:29491103   PMID:29513927   PMID:30401746   PMID:30639242  
PMID:30898150   PMID:31659653   PMID:32218416   PMID:32266818  


Genomics

Comparative Map Data
EPHA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7143,390,289 - 143,408,856 (-)EnsemblGRCh38hg38GRCh38
GRCh387143,390,813 - 143,408,865 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377143,088,205 - 143,105,985 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,798,327 - 142,816,107 (-)NCBINCBI36hg18NCBI36
Build 347142,605,042 - 142,622,822NCBI
Celera7137,925,469 - 137,943,251 (-)NCBI
Cytogenetic Map7q34-q35NCBI
HuRef7137,425,521 - 137,443,246 (-)NCBIHuRef
CHM1_17143,025,132 - 143,041,700 (-)NCBICHM1_1
CRA_TCAGchr7v27142,490,337 - 142,508,118 (-)NCBI
Epha1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39642,335,421 - 42,350,249 (-)NCBIGRCm39mm39
GRCm38642,358,487 - 42,373,314 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl642,358,487 - 42,373,268 (-)EnsemblGRCm38mm10GRCm38
MGSCv37642,308,486 - 42,323,267 (-)NCBIGRCm37mm9NCBIm37
MGSCv36642,288,094 - 42,302,875 (-)NCBImm8
Celera642,303,129 - 42,317,914 (-)NCBICelera
Cytogenetic Map6B2.1NCBI
Epha1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0471,749,100 - 71,763,681 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl471,749,242 - 71,763,679 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04136,553,640 - 136,568,077 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4470,127,872 - 70,142,309 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1470,404,001 - 70,418,438 (-)NCBI
Celera466,176,888 - 66,191,325 (-)NCBICelera
Cytogenetic Map4q24NCBI
Epha1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955494255,162 - 268,777 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955494256,008 - 268,777 (+)NCBIChiLan1.0ChiLan1.0
EPHA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17147,875,028 - 147,892,064 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7147,875,363 - 147,892,745 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v07135,385,894 - 135,403,632 (-)NCBIMhudiblu_PPA_v0panPan3
EPHA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl166,287,910 - 6,304,090 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1166,287,757 - 6,304,082 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Epha1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936527833,578 - 847,824 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPHA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl186,843,299 - 6,860,991 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1186,843,305 - 6,860,976 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2187,081,296 - 7,098,902 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EPHA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121112,276,941 - 112,294,505 (-)NCBI
ChlSab1.1 Ensembl21112,277,427 - 112,294,424 (-)Ensembl
Epha1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480011,364,685 - 11,380,725 (+)NCBI

Position Markers
RH69086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,088,390 - 143,088,532UniSTSGRCh37
Build 367142,798,512 - 142,798,654RGDNCBI36
Celera7137,925,654 - 137,925,796RGD
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q32UniSTS
HuRef7137,425,706 - 137,425,848UniSTS
CRA_TCAGchr7v27142,490,522 - 142,490,664UniSTS
RH102690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,097,627 - 143,097,748UniSTSGRCh37
Build 367142,807,749 - 142,807,870RGDNCBI36
Celera7137,934,891 - 137,935,012RGD
Cytogenetic Map7q34UniSTS
HuRef7137,434,943 - 137,435,064UniSTS
CRA_TCAGchr7v27142,499,759 - 142,499,880UniSTS
GeneMap99-GB4 RH Map7656.69UniSTS
RH12060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,088,029 - 143,088,170UniSTSGRCh37
Build 367142,798,151 - 142,798,292RGDNCBI36
Celera7137,925,293 - 137,925,434RGD
Cytogenetic Map7q32UniSTS
Cytogenetic Map7q34UniSTS
HuRef7137,425,345 - 137,425,486UniSTS
CRA_TCAGchr7v27142,490,161 - 142,490,302UniSTS
GeneMap99-GB4 RH Map7654.89UniSTS
ZYX_3067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,087,768 - 143,088,395UniSTSGRCh37
Build 367142,797,890 - 142,798,517RGDNCBI36
Celera7137,925,032 - 137,925,659RGD
HuRef7137,425,084 - 137,425,711UniSTS
CRA_TCAGchr7v27142,489,900 - 142,490,527UniSTS
D20S1007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,088,340 - 143,088,458UniSTSGRCh37
Build 367142,798,462 - 142,798,580RGDNCBI36
Celera7137,925,604 - 137,925,722RGD
Cytogenetic Map7q32UniSTS
Cytogenetic Map7q34UniSTS
HuRef7137,425,656 - 137,425,774UniSTS
CRA_TCAGchr7v27142,490,472 - 142,490,590UniSTS
TNG Radiation Hybrid Map765102.0UniSTS
G10664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,088,254 - 143,088,521UniSTSGRCh37
Build 367142,798,376 - 142,798,643RGDNCBI36
Celera7137,925,518 - 137,925,785RGD
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q32UniSTS
HuRef7137,425,570 - 137,425,837UniSTS
CRA_TCAGchr7v27142,490,386 - 142,490,653UniSTS
RH47177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,087,964 - 143,088,043UniSTSGRCh37
GRCh378138,436,896 - 138,436,976UniSTSGRCh37
Celera8134,608,249 - 134,608,329UniSTS
Celera7137,925,228 - 137,925,307UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q32UniSTS
HuRef7137,425,280 - 137,425,359UniSTS
CRA_TCAGchr7v27142,490,096 - 142,490,175UniSTS
GeneMap99-GB4 RH Map7654.85UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1811
Count of miRNA genes:812
Interacting mature miRNAs:947
Transcripts:ENST00000275815, ENST00000458129, ENST00000465208, ENST00000479459, ENST00000488068, ENST00000494989, ENST00000497891
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 448 10 844 327 151 219 1482 3 14 93 501 840 121 1 690 1
Low 1965 2388 757 290 1203 239 2067 1081 1776 302 931 683 52 1188 1366 5 2
Below cutoff 20 584 123 7 471 7 805 1099 1910 24 26 60 15 732

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA723562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA723620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA788809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI057542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU131228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD653381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN289899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN289901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M18391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z27409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000275815   ⟹   ENSP00000275815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,391,129 - 143,408,856 (-)Ensembl
RefSeq Acc Id: ENST00000458129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,390,289 - 143,391,391 (-)Ensembl
RefSeq Acc Id: ENST00000465208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,394,210 - 143,395,601 (-)Ensembl
RefSeq Acc Id: ENST00000479459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,397,481 - 143,398,712 (-)Ensembl
RefSeq Acc Id: ENST00000488068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,391,411 - 143,408,805 (-)Ensembl
RefSeq Acc Id: ENST00000494989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,394,807 - 143,396,681 (-)Ensembl
RefSeq Acc Id: ENST00000497891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,400,826 - 143,407,650 (-)Ensembl
RefSeq Acc Id: NM_005232   ⟹   NP_005223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,391,129 - 143,408,856 (-)NCBI
GRCh377143,088,205 - 143,105,985 (-)ENTREZGENE
Build 367142,798,327 - 142,816,107 (-)NCBI Archive
HuRef7137,425,521 - 137,443,246 (-)ENTREZGENE
CHM1_17143,025,132 - 143,041,700 (-)NCBI
CRA_TCAGchr7v27142,490,337 - 142,508,118 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006715880   ⟹   XP_006715943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,390,813 - 143,408,865 (-)NCBI
Sequence:
RefSeq Acc Id: XR_428169
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,391,093 - 143,408,865 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005223   ⟸   NM_005232
- Peptide Label: precursor
- UniProtKB: P21709 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006715943   ⟸   XM_006715880
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000275815   ⟸   ENST00000275815
Protein Domains
Eph LBD   Fibronectin type-III   Protein kinase   SAM

Promoters
RGD ID:6805169
Promoter ID:HG_KWN:60113
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:OTTHUMT00000342150,   OTTHUMT00000342151,   OTTHUMT00000342156
Position:
Human AssemblyChrPosition (strand)Source
Build 367142,815,001 - 142,815,501 (+)MPROMDB
RGD ID:6805638
Promoter ID:HG_KWN:60114
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:OTTHUMT00000342154,   OTTHUMT00000342155
Position:
Human AssemblyChrPosition (strand)Source
Build 367142,815,501 - 142,816,001 (-)MPROMDB
RGD ID:7212177
Promoter ID:EPDNEW_H11835
Type:initiation region
Name:EPHA1_1
Description:EPH receptor A1
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
GRCh387143,408,856 - 143,408,916EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 copy number loss See cases [RCV000050639] Chr7:142578948..144254897 [GRCh38]
Chr7:142528609..143951990 [GRCh37]
Chr7:141967554..143582923 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35
pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35
uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35
benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_005232.5(EPHA1):c.2889C>T (p.His963=) single nucleotide variant not provided [RCV000962305] Chr7:143391499 [GRCh38]
Chr7:143088592 [GRCh37]
Chr7:7q34
benign
NM_005232.5(EPHA1):c.69G>T (p.Ala23=) single nucleotide variant not provided [RCV000947084] Chr7:143408737 [GRCh38]
Chr7:143105830 [GRCh37]
Chr7:7q35
benign
NM_005232.5(EPHA1):c.71G>A (p.Arg24His) single nucleotide variant not provided [RCV000950730] Chr7:143408735 [GRCh38]
Chr7:143105828 [GRCh37]
Chr7:7q35
benign
NM_005232.5(EPHA1):c.835+8C>T single nucleotide variant not provided [RCV000902103] Chr7:143399643 [GRCh38]
Chr7:143096736 [GRCh37]
Chr7:7q34
benign
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
NM_005232.5(EPHA1):c.2071G>A (p.Val691Ile) single nucleotide variant not provided [RCV000895356] Chr7:143395331 [GRCh38]
Chr7:143092424 [GRCh37]
Chr7:7q34
likely benign
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
NM_005232.5(EPHA1):c.942G>A (p.Glu314=) single nucleotide variant not provided [RCV000914322] Chr7:143399307 [GRCh38]
Chr7:143096400 [GRCh37]
Chr7:7q34
benign
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
NM_005232.5(EPHA1):c.690C>T (p.Thr230=) single nucleotide variant not provided [RCV000929809] Chr7:143399796 [GRCh38]
Chr7:143096889 [GRCh37]
Chr7:7q34
likely benign
NM_005232.5(EPHA1):c.282C>T (p.Arg94=) single nucleotide variant not provided [RCV000896732] Chr7:143401474 [GRCh38]
Chr7:143098567 [GRCh37]
Chr7:7q35
likely benign
NM_005232.5(EPHA1):c.2616C>T (p.His872=) single nucleotide variant not provided [RCV000880593] Chr7:143393751 [GRCh38]
Chr7:143090844 [GRCh37]
Chr7:7q34
benign
NM_005232.5(EPHA1):c.2353-10G>A single nucleotide variant not provided [RCV000890172] Chr7:143394353 [GRCh38]
Chr7:143091446 [GRCh37]
Chr7:7q34
likely benign
NM_005232.5(EPHA1):c.1771+7C>T single nucleotide variant not provided [RCV000891428] Chr7:143397297 [GRCh38]
Chr7:143094390 [GRCh37]
Chr7:7q34
benign
NM_005232.5(EPHA1):c.1771+10G>A single nucleotide variant not provided [RCV000911363] Chr7:143397294 [GRCh38]
Chr7:143094387 [GRCh37]
Chr7:7q34
likely benign
NM_005232.5(EPHA1):c.1005C>T (p.Ala335=) single nucleotide variant not provided [RCV000889976] Chr7:143398932 [GRCh38]
Chr7:143096025 [GRCh37]
Chr7:7q34
benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3385 AgrOrtholog
COSMIC EPHA1 COSMIC
Ensembl Genes ENSG00000146904 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000284816 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000275815 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494931 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000275815 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645847 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot
  2.60.120.260 UniProtKB/Swiss-Prot
  2.60.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000146904 GTEx
  ENSG00000284816 GTEx
HGNC ID HGNC:3385 ENTREZGENE
Human Proteome Map EPHA1 Human Proteome Map
InterPro Eph_TM UniProtKB/Swiss-Prot
  EphA1_rcpt_lig-bd UniProtKB/Swiss-Prot
  Ephrin_rcpt_lig-bd_dom UniProtKB/Swiss-Prot
  FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Galactose-bd-like_sf UniProtKB/Swiss-Prot
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  SAM UniProtKB/Swiss-Prot
  SAM/pointed_sf UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr-kin_ephrin_A/B_rcpt-like UniProtKB/Swiss-Prot
  Tyr_kinase_AS UniProtKB/Swiss-Prot
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_ephrin_rcpt UniProtKB/Swiss-Prot
  Tyr_kinase_rcpt_V_CS UniProtKB/Swiss-Prot
KEGG Report hsa:2041 UniProtKB/Swiss-Prot
NCBI Gene 2041 ENTREZGENE
OMIM 179610 OMIM
Pfam EphA2_TM UniProtKB/Swiss-Prot
  Ephrin_lbd UniProtKB/Swiss-Prot
  fn3 UniProtKB/Swiss-Prot
  Pkinase_Tyr UniProtKB/Swiss-Prot
  SAM_1 UniProtKB/Swiss-Prot
PharmGKB PA27817 PharmGKB
PIRSF TyrPK_ephrin_receptor UniProtKB/Swiss-Prot
PRINTS TYRKINASE UniProtKB/Swiss-Prot
PROSITE EGF_2 UniProtKB/Swiss-Prot
  EPH_LBD UniProtKB/Swiss-Prot
  FN3 UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot
  RECEPTOR_TYR_KIN_V_1 UniProtKB/Swiss-Prot
  RECEPTOR_TYR_KIN_V_2 UniProtKB/Swiss-Prot
  SAM_DOMAIN UniProtKB/Swiss-Prot
SMART EPH_lbd UniProtKB/Swiss-Prot
  Ephrin_rec_like UniProtKB/Swiss-Prot
  FN3 UniProtKB/Swiss-Prot
  SAM UniProtKB/Swiss-Prot
  TyrKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot
  SSF49265 UniProtKB/Swiss-Prot
  SSF49785 UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot
  SSF57184 UniProtKB/Swiss-Prot
UniGene Hs.89839 ENTREZGENE
UniProt EPHA1_HUMAN UniProtKB/Swiss-Prot
  L8EAE3_HUMAN UniProtKB/TrEMBL
  P21709 ENTREZGENE
UniProt Secondary A1L3V3 UniProtKB/Swiss-Prot
  B5A966 UniProtKB/Swiss-Prot
  B5A967 UniProtKB/Swiss-Prot
  Q15405 UniProtKB/Swiss-Prot