ERAP1 (endoplasmic reticulum aminopeptidase 1) - Rat Genome Database

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Gene: ERAP1 (endoplasmic reticulum aminopeptidase 1) Homo sapiens
Analyze
Symbol: ERAP1
Name: endoplasmic reticulum aminopeptidase 1
RGD ID: 732566
HGNC Page HGNC:18173
Description: Enables interleukin-6 receptor binding activity and peptidase activity. Involved in membrane protein ectodomain proteolysis. Located in extracellular region. Implicated in cervix carcinoma. Biomarker of endometrial carcinoma and severe pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: A-LAP; adipocyte-derived leucine aminopeptidase; ALAP; aminopeptidase PILS; aminopeptidase regulator of TNFR1 shedding; APPILS; ARTS-1; ARTS1; CTD-2260A17.2; endoplasmic reticulum aminopeptidase 1 delta-Exon-11 isoform; endoplasmic reticulum aminopeptidase 1 delta-Exon-13 isoform; endoplasmic reticulum aminopeptidase 1 delta-Exon-14 isoform; endoplasmic reticulum aminopeptidase 1 delta-Exon-15 isoform; endoplasmic reticulum aminopeptidase associated with antigen processing; ERAAP; ERAAP1; KIAA0525; leucyl-specific aminopeptidase pils; PILS-AP; PILSAP; puromycin-insensitive leucyl-specific aminopeptidase; type 1 tumor necrosis factor receptor shedding aminopeptidase regulator
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38596,760,813 - 96,935,854 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl596,760,810 - 96,808,100 (-)EnsemblGRCh38hg38GRCh38
GRCh37596,096,517 - 96,149,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36596,122,270 - 96,169,648 (-)NCBINCBI36Build 36hg18NCBI36
Build 34596,122,276 - 96,169,398NCBI
Celera591,980,937 - 92,028,293 (-)NCBICelera
Cytogenetic Map5q15NCBI
HuRef591,286,769 - 91,340,086 (-)NCBIHuRef
CHM1_1595,529,237 - 95,582,553 (-)NCBICHM1_1
T2T-CHM13v2.0597,261,648 - 97,314,923 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
butanal  (EXP)
cannabidiol  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
cisplatin  (EXP)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
flutamide  (ISO)
gentamycin  (ISO)
haloperidol  (EXP)
irbesartan  (EXP)
ivermectin  (EXP)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
N-nitrosodimethylamine  (ISO)
Nutlin-3  (EXP)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
pentachlorophenol  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propiconazole  (ISO)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sotorasib  (EXP)
succimer  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
titanium dioxide  (ISO)
trametinib  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
AA amyloidosis  (IAGP)
Abdominal pain  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal myocardium morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Acne  (IAGP)
Anorexia  (IAGP)
Aortic regurgitation  (IAGP)
Arterial thrombosis  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Avascular necrosis  (IAGP)
Blindness  (IAGP)
Cataract  (IAGP)
Cerebral ischemia  (IAGP)
Confusion  (IAGP)
Cranial nerve paralysis  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Endocarditis  (IAGP)
Epididymitis  (IAGP)
Erythema nodosum  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Gait disturbance  (IAGP)
Gangrene  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Genital ulcers  (IAGP)
Glomerulonephritis  (IAGP)
Glomerulopathy  (IAGP)
Headache  (IAGP)
Hemiparesis  (IAGP)
Hemoptysis  (IAGP)
Hyperreflexia  (IAGP)
Immunologic hypersensitivity  (IAGP)
Increased inflammatory response  (IAGP)
Increased intracranial pressure  (IAGP)
Infectious encephalitis  (IAGP)
Irritability  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Lymphadenopathy  (IAGP)
Malabsorption  (IAGP)
Memory impairment  (IAGP)
Meningitis  (IAGP)
Migraine  (IAGP)
Mitral regurgitation  (IAGP)
Myalgia  (IAGP)
Myocardial infarction  (IAGP)
Myocarditis  (IAGP)
Myositis  (IAGP)
Nausea and vomiting  (IAGP)
Non-infectious meningitis  (IAGP)
Nongranulomatous uveitis  (IAGP)
Optic neuritis  (IAGP)
Oral ulcer  (IAGP)
Orchitis  (IAGP)
Pancreatitis  (IAGP)
Panuveitis  (IAGP)
Papule  (IAGP)
Paresthesia  (IAGP)
Pericarditis  (IAGP)
Photophobia  (IAGP)
Pleural effusion  (IAGP)
Pleuritis  (IAGP)
Positive pathergy test  (IAGP)
Prolonged QT interval  (IAGP)
Pulmonary embolism  (IAGP)
Pulmonary infiltrates  (IAGP)
Pustule  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent fever  (IAGP)
Renal insufficiency  (IAGP)
Retinopathy  (IAGP)
Retrobulbar optic neuritis  (IAGP)
Seizure  (IAGP)
Splenomegaly  (IAGP)
Subcutaneous nodule  (IAGP)
Superficial thrombophlebitis  (IAGP)
Vasculitis  (IAGP)
Venous thrombosis  (IAGP)
Vertigo  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma. Mehta AM, etal., Genes Chromosomes Cancer. 2009 May;48(5):410-8.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. All the peptides that fit: the beginning, the middle, and the end of the MHC class I antigen-processing pathway. Shastri N, etal., Immunol Rev. 2005 Oct;207:31-41.
5. Possible involvement of adipocyte-derived leucine aminopeptidase via angiotensin II in endometrial carcinoma. Shibata K, etal., Tumour Biol. 2005 Jan-Feb;26(1):9-16. Epub 2005 Feb 28.
6. Increased decidual mRNA expression levels of candidate maternal pre-eclampsia susceptibility genes are associated with clinical severity. Yong HE, etal., Placenta. 2014 Feb;35(2):117-24. doi: 10.1016/j.placenta.2013.11.008. Epub 2013 Nov 25.
Additional References at PubMed
PMID:8125298   PMID:9628581   PMID:10220586   PMID:11056387   PMID:11481040   PMID:11857741   PMID:12168954   PMID:12189246   PMID:12368856   PMID:12436109   PMID:12436110   PMID:12477932  
PMID:12748171   PMID:12975309   PMID:14662887   PMID:14702039   PMID:15314084   PMID:15342556   PMID:15489334   PMID:15691326   PMID:15908954   PMID:16034137   PMID:16054015   PMID:16286653  
PMID:16344560   PMID:16407280   PMID:16502470   PMID:16585582   PMID:17015730   PMID:17088086   PMID:17390085   PMID:17952073   PMID:17999179   PMID:18393273   PMID:18445477   PMID:18593381  
PMID:18987748   PMID:19110536   PMID:19199708   PMID:19404951   PMID:19414429   PMID:19433412   PMID:19578876   PMID:19581569   PMID:19692350   PMID:19828632   PMID:19877036   PMID:19913121  
PMID:19917163   PMID:19946888   PMID:20032103   PMID:20062062   PMID:20103633   PMID:20347630   PMID:20367925   PMID:20379614   PMID:20419298   PMID:20592285   PMID:20595269   PMID:20628086  
PMID:20843824   PMID:20953187   PMID:20953190   PMID:21041274   PMID:21068102   PMID:21078719   PMID:21229357   PMID:21242517   PMID:21281511   PMID:21314638   PMID:21362330   PMID:21424381  
PMID:21478864   PMID:21508329   PMID:21574996   PMID:21743469   PMID:21833528   PMID:21865284   PMID:21873635   PMID:21877190   PMID:22106953   PMID:22253828   PMID:22286212   PMID:22355701  
PMID:22466567   PMID:22512642   PMID:22632381   PMID:22658674   PMID:22896742   PMID:22918227   PMID:22931917   PMID:23093722   PMID:23128233   PMID:23264405   PMID:23281010   PMID:23291587  
PMID:23452840   PMID:23545452   PMID:23656713   PMID:23696916   PMID:23733883   PMID:23800305   PMID:23864143   PMID:23965983   PMID:24028501   PMID:24046467   PMID:24223975   PMID:24352655  
PMID:24504800   PMID:24666027   PMID:24928998   PMID:24957906   PMID:25019531   PMID:25142031   PMID:25187574   PMID:25354578   PMID:25401226   PMID:25422414   PMID:25469497   PMID:25545008  
PMID:25591727   PMID:25592150   PMID:25665737   PMID:25740711   PMID:25817437   PMID:25892735   PMID:25994336   PMID:26002026   PMID:26097239   PMID:26130142   PMID:26146606   PMID:26186194  
PMID:26224046   PMID:26321090   PMID:26350268   PMID:26360328   PMID:26393469   PMID:26399368   PMID:26617903   PMID:26618866   PMID:27095091   PMID:27107845   PMID:27108589   PMID:27217550  
PMID:27375898   PMID:27458846   PMID:27514473   PMID:28049827   PMID:28063628   PMID:28083613   PMID:28083616   PMID:28161768   PMID:28218509   PMID:28366632   PMID:28446606   PMID:28514442  
PMID:28651467   PMID:28746870   PMID:28759104   PMID:28814066   PMID:28867178   PMID:28901420   PMID:29037997   PMID:29108111   PMID:29183862   PMID:29278704   PMID:29278768   PMID:29480940  
PMID:29632046   PMID:29991817   PMID:30021884   PMID:30054427   PMID:30144977   PMID:30215709   PMID:30313118   PMID:30412714   PMID:30461632   PMID:30514861   PMID:30518188   PMID:30680818  
PMID:30711629   PMID:30740926   PMID:30769005   PMID:30794838   PMID:30820838   PMID:31091453   PMID:31332168   PMID:31523044   PMID:31601650   PMID:31672933   PMID:31711818   PMID:31729751  
PMID:31790864   PMID:31873220   PMID:31896552   PMID:32023277   PMID:32161166   PMID:32184355   PMID:32210971   PMID:32235678   PMID:32239976   PMID:32321463   PMID:32409323   PMID:32647953  
PMID:32687490   PMID:32824160   PMID:33216288   PMID:33309189   PMID:33545068   PMID:33617882   PMID:33651148   PMID:33762660   PMID:33794716   PMID:33961781   PMID:34079125   PMID:34389743  
PMID:34395615   PMID:34489420   PMID:34555981   PMID:34580106   PMID:34591612   PMID:34643924   PMID:34686465   PMID:34688668   PMID:34727153   PMID:34917091   PMID:35007762   PMID:35139766  
PMID:35192681   PMID:35216969   PMID:35509820   PMID:35696571   PMID:35831314   PMID:35922122   PMID:35944360   PMID:35954271   PMID:36168628   PMID:36215168   PMID:36228519   PMID:36543142  
PMID:36569828   PMID:36592387   PMID:36716917   PMID:36740089   PMID:36834865   PMID:37101107   PMID:37686141   PMID:37690994   PMID:37827155   PMID:37858978   PMID:37925533   PMID:38342012  
PMID:38551779   PMID:38951078   PMID:39034571  


Genomics

Comparative Map Data
ERAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38596,760,813 - 96,935,854 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl596,760,810 - 96,808,100 (-)EnsemblGRCh38hg38GRCh38
GRCh37596,096,517 - 96,149,848 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36596,122,270 - 96,169,648 (-)NCBINCBI36Build 36hg18NCBI36
Build 34596,122,276 - 96,169,398NCBI
Celera591,980,937 - 92,028,293 (-)NCBICelera
Cytogenetic Map5q15NCBI
HuRef591,286,769 - 91,340,086 (-)NCBIHuRef
CHM1_1595,529,237 - 95,582,553 (-)NCBICHM1_1
T2T-CHM13v2.0597,261,648 - 97,314,923 (-)NCBIT2T-CHM13v2.0
Erap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391374,787,692 - 74,841,321 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1374,787,687 - 74,841,320 (+)EnsemblGRCm39 Ensembl
GRCm381374,639,573 - 74,693,205 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1374,639,568 - 74,693,201 (+)EnsemblGRCm38mm10GRCm38
MGSCv371374,777,320 - 74,829,323 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361375,105,874 - 75,157,877 (+)NCBIMGSCv36mm8
Celera1376,970,386 - 77,021,970 (+)NCBICelera
Cytogenetic Map13C1NCBI
cM Map1340.48NCBI
Erap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr825,666,337 - 5,705,256 (+)NCBIGRCr8
mRatBN7.223,931,817 - 3,970,735 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl23,931,904 - 3,972,447 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx211,040,964 - 11,079,787 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.029,140,189 - 9,179,011 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.023,777,162 - 3,815,982 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.021,410,877 - 1,449,734 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl21,410,934 - 1,449,733 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.021,381,061 - 1,419,645 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.421,453,878 - 1,492,671 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.121,457,924 - 1,492,670 (+)NCBI
Celera2431,649 - 466,037 (+)NCBICelera
Cytogenetic Map2q11NCBI
Erap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541815,830,371 - 15,859,720 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541815,827,560 - 15,859,720 (+)NCBIChiLan1.0ChiLan1.0
ERAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2492,022,595 - 92,056,016 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1590,176,243 - 90,337,794 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0592,061,414 - 92,119,087 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1597,625,811 - 97,799,499 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl597,641,353 - 97,668,365 (-)Ensemblpanpan1.1panPan2
ERAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1312,879,823 - 12,920,710 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl312,879,477 - 12,919,634 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha314,217,433 - 14,261,168 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0312,760,873 - 12,803,107 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl312,760,934 - 12,803,102 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1312,721,683 - 12,764,349 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0312,716,755 - 12,760,524 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0312,916,519 - 12,958,941 (+)NCBIUU_Cfam_GSD_1.0
Erap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213168,475,893 - 168,502,935 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365236,661,315 - 6,690,425 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365236,661,119 - 6,686,988 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2103,378,429 - 103,408,759 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12103,378,428 - 103,415,066 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22107,137,501 - 107,167,876 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1490,591,198 - 90,642,331 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl490,600,690 - 90,637,563 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604939,248,974 - 39,415,702 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Erap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474315,408,485 - 15,431,967 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474315,407,217 - 15,442,610 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ERAP1
251 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3 copy number gain See cases [RCV000051841] Chr5:96454445..114050905 [GRCh38]
Chr5:95790149..113386602 [GRCh37]
Chr5:95815905..113414501 [NCBI36]
Chr5:5q15-22.3		 pathogenic
GRCh38/hg38 5q15(chr5:93405010-97716265)x3 copy number gain See cases [RCV000053285] Chr5:93405010..97716265 [GRCh38]
Chr5:92740716..97051969 [GRCh37]
Chr5:92766472..97077725 [NCBI36]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q15(chr5:96792139-96966998)x3 copy number gain See cases [RCV000053286] Chr5:96792139..96966998 [GRCh38]
Chr5:96127842..96302702 [GRCh37]
Chr5:96153598..96328458 [NCBI36]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 copy number loss See cases [RCV000053516] Chr5:89081352..104687248 [GRCh38]
Chr5:88377169..104022949 [GRCh37]
Chr5:88412925..104050848 [NCBI36]
Chr5:5q14.3-21.2		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 copy number loss See cases [RCV000053519] Chr5:91386552..98365880 [GRCh38]
Chr5:90682369..97701584 [GRCh37]
Chr5:90718125..97729488 [NCBI36]
Chr5:5q14.3-15		 pathogenic
NM_001750.7(CAST):c.2041A>G (p.Lys681Glu) single nucleotide variant Inborn genetic diseases [RCV003200573] Chr5:96766056 [GRCh38]
Chr5:96101760 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1		 pathogenic
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 copy number loss See cases [RCV000141252] Chr5:92899734..119614119 [GRCh38]
Chr5:92235441..118949814 [GRCh37]
Chr5:92261197..118977713 [NCBI36]
Chr5:5q14.3-23.1		 pathogenic
GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 copy number loss See cases [RCV000143249] Chr5:93193104..113287795 [GRCh38]
Chr5:92528810..112623492 [GRCh37]
Chr5:92554566..112651391 [NCBI36]
Chr5:5q15-22.2		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic
NM_001040458.3(ERAP1):c.955A>G (p.Met319Val) single nucleotide variant Long QT syndrome [RCV000190209] Chr5:96793922 [GRCh38]
Chr5:96129625 [GRCh37]
Chr5:5q15		 likely benign
NM_001130140.1(ERAP2):c.1641C>T (p.Ile547=) single nucleotide variant Malignant melanoma [RCV000067050] Chr5:96901574 [GRCh38]
Chr5:96237278 [GRCh37]
Chr5:96263034 [NCBI36]
Chr5:5q15		 not provided
NM_001130140.1(ERAP2):c.1642C>T (p.Pro548Ser) single nucleotide variant Malignant melanoma [RCV000067051] Chr5:96901575 [GRCh38]
Chr5:96237279 [GRCh37]
Chr5:96263035 [NCBI36]
Chr5:5q15		 not provided
NM_001750.7(CAST):c.1873del (p.Val625fs) deletion Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV000169752] Chr5:96762313 [GRCh38]
Chr5:96098017 [GRCh37]
Chr5:5q15		 pathogenic|not provided
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001750.7(CAST):c.2037+26_2037+28del deletion not provided [RCV001692099]|not specified [RCV000454841] Chr5:96765328..96765330 [GRCh38]
Chr5:96101032..96101034 [GRCh37]
Chr5:5q15		 benign
GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1 copy number loss See cases [RCV000510548] Chr5:95049966..103537589 [GRCh37]
Chr5:5q15-21.2		 likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_022350.5(ERAP2):c.1655T>A (p.Val552Asp) single nucleotide variant not specified [RCV004325736] Chr5:96901588 [GRCh38]
Chr5:96237292 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2677G>A (p.Gly893Arg) single nucleotide variant not specified [RCV004303411] Chr5:96776545 [GRCh38]
Chr5:96112249 [GRCh37]
Chr5:5q15		 uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_001040458.3(ERAP1):c.2551C>A (p.Gln851Lys) single nucleotide variant not specified [RCV004293506] Chr5:96781095 [GRCh38]
Chr5:96116799 [GRCh37]
Chr5:5q15		 likely benign
NM_001750.7(CAST):c.2032G>C (p.Val678Leu) single nucleotide variant Inborn genetic diseases [RCV003256706] Chr5:96765320 [GRCh38]
Chr5:96101024 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1 copy number loss not provided [RCV000682580] Chr5:91504101..104858348 [GRCh37]
Chr5:5q14.3-21.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_001750.7(CAST):c.1834-130T>C single nucleotide variant not provided [RCV001643506] Chr5:96762144 [GRCh38]
Chr5:96097848 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2430T>C (p.Asn810=) single nucleotide variant not provided [RCV000916361] Chr5:96781710 [GRCh38]
Chr5:96117414 [GRCh37]
Chr5:5q15		 likely benign
NM_022350.5(ERAP2):c.2207G>A (p.Arg736Lys) single nucleotide variant not specified [RCV004293410] Chr5:96909617 [GRCh38]
Chr5:96245321 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.1835A>G (p.Lys612Arg) single nucleotide variant CAST-related disorder [RCV003930537]|not provided [RCV000881207] Chr5:96762275 [GRCh38]
Chr5:96097979 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.423C>T (p.Val141=) single nucleotide variant not provided [RCV000943754] Chr5:96803504 [GRCh38]
Chr5:96139207 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.1760-4C>G single nucleotide variant not provided [RCV000943442] Chr5:96785975 [GRCh38]
Chr5:96121679 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.204T>C (p.His68=) single nucleotide variant not provided [RCV000946865] Chr5:96803723 [GRCh38]
Chr5:96139426 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1617G>C (p.Gly539=) single nucleotide variant not provided [RCV000884314] Chr5:96788593 [GRCh38]
Chr5:96124296 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2103C>T (p.Tyr701=) single nucleotide variant not provided [RCV000965689] Chr5:96766118 [GRCh38]
Chr5:96101822 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_001040458.3(ERAP1):c.2100+9C>T single nucleotide variant not provided [RCV000923438] Chr5:96783915 [GRCh38]
Chr5:96119619 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.2787C>T (p.Ile929=) single nucleotide variant not provided [RCV000881208] Chr5:96776435 [GRCh38]
Chr5:96112139 [GRCh37]
Chr5:5q15		 benign
NM_022350.5(ERAP2):c.1503+3_1503+102dup duplication not provided [RCV000948703] Chr5:96896864..96896865 [GRCh38]
Chr5:96232568..96232569 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1763T>G (p.Val588Gly) single nucleotide variant not provided [RCV000965690] Chr5:96785968 [GRCh38]
Chr5:96121672 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.216C>T (p.Thr72=) single nucleotide variant not provided [RCV000923412] Chr5:96803711 [GRCh38]
Chr5:96139414 [GRCh37]
Chr5:5q15		 likely benign
NM_001750.7(CAST):c.2181T>G (p.Pro727=) single nucleotide variant not provided [RCV000880240] Chr5:96767912 [GRCh38]
Chr5:96103616 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1540G>A (p.Gly514Arg) single nucleotide variant not provided [RCV000973089] Chr5:96788670 [GRCh38]
Chr5:96124373 [GRCh37]
Chr5:5q15		 likely benign
NM_022350.5(ERAP2):c.2694C>T (p.Ile898=) single nucleotide variant not provided [RCV000894743] Chr5:96915724 [GRCh38]
Chr5:96251428 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.54C>T (p.Ser18=) single nucleotide variant not provided [RCV000906456] Chr5:96803873 [GRCh38]
Chr5:96139576 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.551C>G (p.Pro184Arg) single nucleotide variant not provided [RCV000915290] Chr5:96800974 [GRCh38]
Chr5:96136677 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2229C>T (p.Cys743=) single nucleotide variant not provided [RCV000893592] Chr5:96783107 [GRCh38]
Chr5:96118811 [GRCh37]
Chr5:5q15		 benign
GRCh37/hg19 5q15(chr5:96097916-96840263)x3 copy number gain not provided [RCV000848397] Chr5:96097916..96840263 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3		 pathogenic
NM_022350.5(ERAP2):c.1232T>G (p.Leu411Arg) single nucleotide variant not provided [RCV003422076]|not specified [RCV000179970] Chr5:96895352 [GRCh38]
Chr5:96895352..96895353 [GRCh38]
Chr5:96231056 [GRCh37]
Chr5:96231056..96231057 [GRCh37]
Chr5:5q15		 benign|likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15		 pathogenic
GRCh37/hg19 5q15(chr5:95335480-97832367)x3 copy number gain not provided [RCV000848836] Chr5:95335480..97832367 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2744T>C (p.Ile915Thr) single nucleotide variant not provided [RCV000958818] Chr5:96776478 [GRCh38]
Chr5:96112182 [GRCh37]
Chr5:5q15		 likely benign
NM_022350.5(ERAP2):c.1957C>A (p.Leu653Ile) single nucleotide variant not specified [RCV004319024] Chr5:96903505 [GRCh38]
Chr5:96239209 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.2037+197G>A single nucleotide variant not provided [RCV001641198] Chr5:96765522 [GRCh38]
Chr5:96101226 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2268+96C>G single nucleotide variant not provided [RCV001618163] Chr5:96768095 [GRCh38]
Chr5:96103799 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2037+191A>G single nucleotide variant not provided [RCV001674365] Chr5:96765516 [GRCh38]
Chr5:96765516..96765517 [GRCh38]
Chr5:96101220 [GRCh37]
Chr5:96101220..96101221 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2130+225= single nucleotide variant not provided [RCV001620425] Chr5:96766370 [GRCh38]
Chr5:96102074 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2130+110C>T single nucleotide variant not provided [RCV001714760] Chr5:96766255 [GRCh38]
Chr5:96101959 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2341-326C>T single nucleotide variant not provided [RCV001715006] Chr5:96771318 [GRCh38]
Chr5:96107022 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.1859C>T (p.Ala620Val) single nucleotide variant not provided [RCV000966953] Chr5:96762299 [GRCh38]
Chr5:96098003 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1830G>T (p.Val610=) single nucleotide variant not provided [RCV000939482] Chr5:96785901 [GRCh38]
Chr5:96121605 [GRCh37]
Chr5:5q15		 likely benign
NM_022350.5(ERAP2):c.1262G>A (p.Cys421Tyr) single nucleotide variant not provided [RCV000900412] Chr5:96896395 [GRCh38]
Chr5:96232099 [GRCh37]
Chr5:5q15		 benign
NM_022350.5(ERAP2):c.185T>A (p.Phe62Tyr) single nucleotide variant not provided [RCV000908474] Chr5:96879870 [GRCh38]
Chr5:96215574 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.1938C>T (p.Leu646=) single nucleotide variant not provided [RCV000888229] Chr5:96785793 [GRCh38]
Chr5:96121497 [GRCh37]
Chr5:5q15		 benign
NM_022350.5(ERAP2):c.1288T>C (p.Leu430=) single nucleotide variant not provided [RCV000901529] Chr5:96896421 [GRCh38]
Chr5:96232125 [GRCh37]
Chr5:5q15		 benign
NM_022350.5(ERAP2):c.1668G>A (p.Gly556=) single nucleotide variant not provided [RCV000880071] Chr5:96901601 [GRCh38]
Chr5:96237305 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.357C>T (p.Pro119=) single nucleotide variant not provided [RCV000918117] Chr5:96803570 [GRCh38]
Chr5:96139273 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2367T>C (p.Tyr789=) single nucleotide variant not provided [RCV000886343] Chr5:96781773 [GRCh38]
Chr5:96117477 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2292C>T (p.Ser764=) single nucleotide variant not provided [RCV000910365] Chr5:96770554 [GRCh38]
Chr5:96106258 [GRCh37]
Chr5:5q15		 likely benign
NM_001750.7(CAST):c.1933-3C>T single nucleotide variant ERAP1-related disorder [RCV003920728]|not provided [RCV000888982] Chr5:96765218 [GRCh38]
Chr5:96100922 [GRCh37]
Chr5:5q15		 benign
NM_022350.5(ERAP2):c.716T>C (p.Val239Ala) single nucleotide variant not provided [RCV000965691] Chr5:96886656 [GRCh38]
Chr5:96222360 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.171C>T (p.Tyr57=) single nucleotide variant not provided [RCV000974411] Chr5:96803756 [GRCh38]
Chr5:96139459 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_001040458.3(ERAP1):c.2671-9C>T single nucleotide variant not provided [RCV000888591] Chr5:96776560 [GRCh38]
Chr5:96112264 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.1218C>T (p.Asp406=) single nucleotide variant not provided [RCV000910489] Chr5:96792163 [GRCh38]
Chr5:96127866 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2799G>A (p.Leu933=) single nucleotide variant not provided [RCV000933645] Chr5:96776423 [GRCh38]
Chr5:96112127 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.2447+9G>A single nucleotide variant not provided [RCV000956295] Chr5:96781684 [GRCh38]
Chr5:96117388 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.*321T>C single nucleotide variant not provided [RCV001661173] Chr5:96776075 [GRCh38]
Chr5:96111779 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2038-237_2038-234del deletion not provided [RCV001620219] Chr5:96765815..96765818 [GRCh38]
Chr5:96101519..96101522 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.1933-161G>C single nucleotide variant not provided [RCV001598081] Chr5:96765060 [GRCh38]
Chr5:96100764 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2341-146G>T single nucleotide variant not provided [RCV001595518] Chr5:96771498 [GRCh38]
Chr5:96107202 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.1834-83T>G single nucleotide variant not provided [RCV001685972] Chr5:96762191 [GRCh38]
Chr5:96097895 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2176-22G>A single nucleotide variant not provided [RCV001710813] Chr5:96767885 [GRCh38]
Chr5:96103589 [GRCh37]
Chr5:5q15		 benign
NC_000005.10:g.96875556A>G single nucleotide variant not provided [RCV001694668] Chr5:96875556 [GRCh38]
Chr5:96211259 [GRCh37]
Chr5:5q15		 benign
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 copy number gain See cases [RCV001007415] Chr5:87792844..109221844 [GRCh37]
Chr5:5q14.3-21.3		 likely pathogenic
NM_001040458.3(ERAP1):c.1068T>C (p.Ala356=) single nucleotide variant not provided [RCV001710528]|not specified [RCV003487738] Chr5:96793809 [GRCh38]
Chr5:96129512 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2175+166C>T single nucleotide variant not provided [RCV001684200] Chr5:96767648 [GRCh38]
Chr5:96103352 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2131-32A>G single nucleotide variant not provided [RCV001708493] Chr5:96767406 [GRCh38]
Chr5:96103110 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2037+38dup duplication not provided [RCV001652132] Chr5:96765362..96765363 [GRCh38]
Chr5:96101066..96101067 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.1932+68G>A single nucleotide variant not provided [RCV001641381] Chr5:96762440 [GRCh38]
Chr5:96098144 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2037+27_2037+28del deletion not provided [RCV001609462] Chr5:96765328..96765329 [GRCh38]
Chr5:96101032..96101033 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.1974dup (p.Asp659Ter) duplication Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads [RCV001334710] Chr5:96765261..96765262 [GRCh38]
Chr5:96100965..96100966 [GRCh37]
Chr5:5q15		 pathogenic
NM_001750.7(CAST):c.1932+138G>A single nucleotide variant not provided [RCV001536475] Chr5:96762510 [GRCh38]
Chr5:96098214 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2130+95A>G single nucleotide variant not provided [RCV001688446] Chr5:96766240 [GRCh38]
Chr5:96101944 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1037G>A (p.Gly346Asp) single nucleotide variant not provided [RCV001695337] Chr5:96793840 [GRCh38]
Chr5:96129543 [GRCh37]
Chr5:5q15		 benign
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108) copy number loss not specified [RCV002053511] Chr5:93650000..114969108 [GRCh37]
Chr5:5q15-22.3		 pathogenic
NM_001750.7(CAST):c.2341-19G>A single nucleotide variant not provided [RCV002119918] Chr5:96771625 [GRCh38]
Chr5:96107329 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2325G>A (p.Ala775=) single nucleotide variant not provided [RCV002148112] Chr5:96770587 [GRCh38]
Chr5:96106291 [GRCh37]
Chr5:5q15		 likely benign
NM_001750.7(CAST):c.2037+15A>G single nucleotide variant not provided [RCV002124070] Chr5:96765340 [GRCh38]
Chr5:96101044 [GRCh37]
Chr5:5q15		 benign
NC_000005.9:g.(?_94800311)_(96107383_?)del deletion not provided [RCV003116754] Chr5:94800311..96107383 [GRCh37]
Chr5:5q15		 pathogenic
NC_000005.9:g.(?_95998127)_(96107383_?)del deletion not provided [RCV003122403] Chr5:95998127..96107383 [GRCh37]
Chr5:5q15		 pathogenic
NM_001040458.3(ERAP1):c.1522T>A (p.Ser508Thr) single nucleotide variant not specified [RCV004297776] Chr5:96790298 [GRCh38]
Chr5:96126001 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2012T>A (p.Met671Lys) single nucleotide variant not specified [RCV004222247] Chr5:96784012 [GRCh38]
Chr5:96119716 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1469C>A (p.Ala490Asp) single nucleotide variant not specified [RCV004183258] Chr5:96896829 [GRCh38]
Chr5:96232533 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1296G>T (p.Met432Ile) single nucleotide variant not specified [RCV004207599] Chr5:96792085 [GRCh38]
Chr5:96127788 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.2193A>T (p.Gln731His) single nucleotide variant Inborn genetic diseases [RCV002771579]|not provided [RCV002806237] Chr5:96767924 [GRCh38]
Chr5:96103628 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1177G>A (p.Glu393Lys) single nucleotide variant not specified [RCV004171490] Chr5:96895297 [GRCh38]
Chr5:96231001 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1469G>C (p.Gly490Ala) single nucleotide variant not specified [RCV004104461] Chr5:96790351 [GRCh38]
Chr5:96126054 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2689T>C (p.Ser897Pro) single nucleotide variant not specified [RCV004223707] Chr5:96776533 [GRCh38]
Chr5:96112237 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2362A>G (p.Lys788Glu) single nucleotide variant not specified [RCV004156279] Chr5:96781778 [GRCh38]
Chr5:96117482 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.605G>A (p.Ser202Asn) single nucleotide variant not specified [RCV004242531] Chr5:96800920 [GRCh38]
Chr5:96136623 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1429G>C (p.Gly477Arg) single nucleotide variant not specified [RCV004109680] Chr5:96896789 [GRCh38]
Chr5:96232493 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.805G>C (p.Val269Leu) single nucleotide variant not specified [RCV004215327] Chr5:96795156 [GRCh38]
Chr5:96130859 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.218C>A (p.Thr73Lys) single nucleotide variant not specified [RCV004121257] Chr5:96803709 [GRCh38]
Chr5:96139412 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2431C>G (p.Gln811Glu) single nucleotide variant not specified [RCV004097508] Chr5:96912713 [GRCh38]
Chr5:96248417 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2707G>A (p.Ala903Thr) single nucleotide variant not specified [RCV004116673] Chr5:96915737 [GRCh38]
Chr5:96251441 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.1837T>C (p.Phe613Leu) single nucleotide variant Inborn genetic diseases [RCV002738866] Chr5:96762277 [GRCh38]
Chr5:96097981 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1839G>T (p.Glu613Asp) single nucleotide variant not specified [RCV004198934] Chr5:96785892 [GRCh38]
Chr5:96121596 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.1937G>A (p.Ser646Asn) single nucleotide variant not provided [RCV002953366] Chr5:96765225 [GRCh38]
Chr5:96100929 [GRCh37]
Chr5:5q15		 likely benign
NM_022350.5(ERAP2):c.2873T>G (p.Val958Gly) single nucleotide variant not specified [RCV004242035] Chr5:96917595 [GRCh38]
Chr5:96253299 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.2185G>A (p.Asp729Asn) single nucleotide variant Inborn genetic diseases [RCV002704219] Chr5:96767916 [GRCh38]
Chr5:96103620 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1613T>G (p.Met538Arg) single nucleotide variant not specified [RCV004134439] Chr5:96901546 [GRCh38]
Chr5:96237250 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.835T>G (p.Ser279Ala) single nucleotide variant not specified [RCV004077525] Chr5:96886775 [GRCh38]
Chr5:96222479 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.532G>T (p.Ala178Ser) single nucleotide variant not specified [RCV004124589] Chr5:96800993 [GRCh38]
Chr5:96136696 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2209G>A (p.Val737Met) single nucleotide variant not specified [RCV004177091] Chr5:96783127 [GRCh38]
Chr5:96118831 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2153T>C (p.Ile718Thr) single nucleotide variant not specified [RCV004199621] Chr5:96909101 [GRCh38]
Chr5:96244805 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2296G>A (p.Asp766Asn) single nucleotide variant not specified [RCV004201777] Chr5:96781844 [GRCh38]
Chr5:96117548 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2735A>G (p.Gln912Arg) single nucleotide variant not specified [RCV004211546] Chr5:96915765 [GRCh38]
Chr5:96251469 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.89C>A (p.Pro30His) single nucleotide variant not specified [RCV004171676] Chr5:96879774 [GRCh38]
Chr5:96215478 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1636C>G (p.Gln546Glu) single nucleotide variant not specified [RCV004112434] Chr5:96788574 [GRCh38]
Chr5:96124277 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2437G>A (p.Glu813Lys) single nucleotide variant not specified [RCV004174472] Chr5:96912719 [GRCh38]
Chr5:96248423 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.1898C>T (p.Thr633Met) single nucleotide variant not provided [RCV002982479] Chr5:96762338 [GRCh38]
Chr5:96098042 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1210T>C (p.Cys404Arg) single nucleotide variant not specified [RCV004237181] Chr5:96792171 [GRCh38]
Chr5:96127874 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.877C>T (p.Arg293Trp) single nucleotide variant not specified [RCV004210954] Chr5:96889212 [GRCh38]
Chr5:96224916 [GRCh37]
Chr5:5q15		 likely benign
NM_022350.5(ERAP2):c.858C>G (p.Ile286Met) single nucleotide variant not specified [RCV004073473] Chr5:96889193 [GRCh38]
Chr5:96224897 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1611G>C (p.Met537Ile) single nucleotide variant not specified [RCV004166005] Chr5:96901544 [GRCh38]
Chr5:96237248 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.83T>C (p.Ile28Thr) single nucleotide variant not specified [RCV004229100] Chr5:96879768 [GRCh38]
Chr5:96215472 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.463C>T (p.Leu155Phe) single nucleotide variant not specified [RCV004108015] Chr5:96803464 [GRCh38]
Chr5:96139167 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.128G>C (p.Ser43Thr) single nucleotide variant not specified [RCV004128416] Chr5:96879813 [GRCh38]
Chr5:96215517 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2332A>G (p.Ser778Gly) single nucleotide variant not specified [RCV004142646] Chr5:96781808 [GRCh38]
Chr5:96117512 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.1852C>T (p.Leu618Phe) single nucleotide variant Inborn genetic diseases [RCV002804360] Chr5:96762292 [GRCh38]
Chr5:96097996 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1319C>T (p.Ala440Val) single nucleotide variant not specified [RCV004144692] Chr5:96896452 [GRCh38]
Chr5:96232156 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.1949T>C (p.Leu650Pro) single nucleotide variant Inborn genetic diseases [RCV002877864] Chr5:96765237 [GRCh38]
Chr5:96100941 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2572C>G (p.Leu858Val) single nucleotide variant not specified [RCV004192048] Chr5:96913372 [GRCh38]
Chr5:96249076 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2797A>C (p.Thr933Pro) single nucleotide variant not specified [RCV004158350] Chr5:96917519 [GRCh38]
Chr5:96253223 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2255C>T (p.Ser752Leu) single nucleotide variant not specified [RCV004189150] Chr5:96909665 [GRCh38]
Chr5:96245369 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2594G>A (p.Arg865His) single nucleotide variant not specified [RCV004193498] Chr5:96913394 [GRCh38]
Chr5:96249098 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1946T>C (p.Ile649Thr) single nucleotide variant not specified [RCV004194693] Chr5:96784078 [GRCh38]
Chr5:96119782 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2659C>T (p.Arg887Trp) single nucleotide variant not specified [RCV004123653] Chr5:96780434 [GRCh38]
Chr5:96116138 [GRCh37]
Chr5:5q15		 likely benign
NM_022350.5(ERAP2):c.114C>G (p.Phe38Leu) single nucleotide variant not specified [RCV004190233] Chr5:96879799 [GRCh38]
Chr5:96215503 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2353C>T (p.Leu785Phe) single nucleotide variant not specified [RCV004147170] Chr5:96781787 [GRCh38]
Chr5:96117491 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.292G>A (p.Glu98Lys) single nucleotide variant not specified [RCV004228179] Chr5:96879977 [GRCh38]
Chr5:96215681 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.218C>T (p.Thr73Met) single nucleotide variant not specified [RCV004173256] Chr5:96803709 [GRCh38]
Chr5:96139412 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1885G>A (p.Gly629Ser) single nucleotide variant not specified [RCV004132549] Chr5:96903433 [GRCh38]
Chr5:96239137 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1330A>G (p.Ile444Val) single nucleotide variant not specified [RCV004096790] Chr5:96790634 [GRCh38]
Chr5:96126337 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.769G>A (p.Val257Ile) single nucleotide variant not specified [RCV004257324] Chr5:96886709 [GRCh38]
Chr5:96222413 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1285A>G (p.Ile429Val) single nucleotide variant not specified [RCV004278527] Chr5:96792096 [GRCh38]
Chr5:96127799 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2341A>G (p.Ser781Gly) single nucleotide variant not specified [RCV004267182] Chr5:96909751 [GRCh38]
Chr5:96245455 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2471G>C (p.Gly824Ala) single nucleotide variant not specified [RCV004255815] Chr5:96781175 [GRCh38]
Chr5:96116879 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1904A>G (p.Tyr635Cys) single nucleotide variant not specified [RCV004259966] Chr5:96903452 [GRCh38]
Chr5:96239156 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.614G>A (p.Arg205His) single nucleotide variant not specified [RCV004262531] Chr5:96883830 [GRCh38]
Chr5:96219534 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.122G>A (p.Arg41His) single nucleotide variant not specified [RCV004297630] Chr5:96803805 [GRCh38]
Chr5:96139508 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2342G>C (p.Ser781Thr) single nucleotide variant not specified [RCV004338504] Chr5:96909752 [GRCh38]
Chr5:96245456 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2640T>G (p.Asn880Lys) single nucleotide variant not specified [RCV004347995] Chr5:96780453 [GRCh38]
Chr5:96116157 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1473G>T (p.Lys491Asn) single nucleotide variant not specified [RCV004336159] Chr5:96896833 [GRCh38]
Chr5:96232537 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1474A>T (p.Asn492Tyr) single nucleotide variant not specified [RCV004336160] Chr5:96896834 [GRCh38]
Chr5:96232538 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.329T>C (p.Leu110Ser) single nucleotide variant not specified [RCV004345393] Chr5:96880014 [GRCh38]
Chr5:96215718 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.468G>A (p.Ser156=) single nucleotide variant not provided [RCV003457437] Chr5:96803459 [GRCh38]
Chr5:96139162 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.1714A>G (p.Ser572Gly) single nucleotide variant not specified [RCV004352142] Chr5:96786515 [GRCh38]
Chr5:96122219 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.380G>C (p.Arg127Pro) single nucleotide variant not specified [RCV003490438] Chr5:96803547 [GRCh38]
Chr5:96139250 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.663+40A>G single nucleotide variant not specified [RCV003490308] Chr5:96800822 [GRCh38]
Chr5:96136525 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1524+89G>A single nucleotide variant not specified [RCV003489269] Chr5:96790207 [GRCh38]
Chr5:96125910 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1359T>C (p.Ser453=) single nucleotide variant not specified [RCV003489271] Chr5:96790605 [GRCh38]
Chr5:96126308 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1680-28T>G single nucleotide variant not specified [RCV003489267] Chr5:96786577 [GRCh38]
Chr5:96122281 [GRCh37]
Chr5:5q15		 benign
NM_022350.5(ERAP2):c.909A>G (p.Ser303=) single nucleotide variant not provided [RCV003428562] Chr5:96889244 [GRCh38]
Chr5:96224948 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.1852G>T (p.Asp618Tyr) single nucleotide variant not provided [RCV003429709]|not specified [RCV004621795] Chr5:96785879 [GRCh38]
Chr5:96121583 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_001040458.3(ERAP1):c.2496T>C (p.Phe832=) single nucleotide variant not provided [RCV003428561] Chr5:96781150 [GRCh38]
Chr5:96116854 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1939G>A (p.Val647Ile) single nucleotide variant not provided [RCV003429708] Chr5:96785792 [GRCh38]
Chr5:96121496 [GRCh37]
Chr5:5q15		 benign
NM_022350.5(ERAP2):c.637G>T (p.Glu213Ter) single nucleotide variant not provided [RCV003429710] Chr5:96883853 [GRCh38]
Chr5:96219557 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.35C>T (p.Thr12Ile) single nucleotide variant not specified [RCV003490347] Chr5:96803892 [GRCh38]
Chr5:96139595 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1723G>A (p.Asp575Asn) single nucleotide variant not specified [RCV003490389] Chr5:96786506 [GRCh38]
Chr5:96122210 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.*95G>A single nucleotide variant not specified [RCV003490410] Chr5:96776301 [GRCh38]
Chr5:96112005 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2542C>T (p.Leu848=) single nucleotide variant not specified [RCV003490413] Chr5:96781104 [GRCh38]
Chr5:96116808 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1680-7A>C single nucleotide variant not specified [RCV003489266] Chr5:96786556 [GRCh38]
Chr5:96122260 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2037+14_2037+28del deletion not provided [RCV003849087] Chr5:96765328..96765342 [GRCh38]
Chr5:96101032..96101046 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.1251C>T (p.His417=) single nucleotide variant not specified [RCV003490331] Chr5:96792130 [GRCh38]
Chr5:96127833 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1943+86T>C single nucleotide variant not specified [RCV003490353] Chr5:96785702 [GRCh38]
Chr5:96121406 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2174G>A (p.Arg725Gln) single nucleotide variant not specified [RCV003490399] Chr5:96783162 [GRCh38]
Chr5:96118866 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.*17A>C single nucleotide variant not specified [RCV003490340] Chr5:96776379 [GRCh38]
Chr5:96112083 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.*298_*299insCA insertion not specified [RCV003490407] Chr5:96776097..96776098 [GRCh38]
Chr5:96111801..96111802 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.*295A>C single nucleotide variant not specified [RCV003490408] Chr5:96776101 [GRCh38]
Chr5:96111805 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1189-10A>G single nucleotide variant not specified [RCV003490431] Chr5:96792202 [GRCh38]
Chr5:96127905 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1760-40G>A single nucleotide variant not specified [RCV003489265] Chr5:96786011 [GRCh38]
Chr5:96121715 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1583A>G (p.Lys528Arg) single nucleotide variant not specified [RCV003489268] Chr5:96788627 [GRCh38]
Chr5:96124330 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1452+18T>C single nucleotide variant not specified [RCV003489270] Chr5:96790494 [GRCh38]
Chr5:96126197 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2100+46_2100+47dup duplication not specified [RCV003489218] Chr5:96783876..96783877 [GRCh38]
Chr5:96119580..96119581 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2671-40G>A single nucleotide variant not specified [RCV003490412] Chr5:96776591 [GRCh38]
Chr5:96112295 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1943+121dup duplication not specified [RCV003490346] Chr5:96785666..96785667 [GRCh38]
Chr5:96121370..96121371 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1911G>A (p.Ala637=) single nucleotide variant not specified [RCV003489278] Chr5:96785820 [GRCh38]
Chr5:96121524 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2448-38C>T single nucleotide variant not specified [RCV003490318] Chr5:96781236 [GRCh38]
Chr5:96116940 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.828A>G (p.Ile276Met) single nucleotide variant not specified [RCV003490354] Chr5:96795133 [GRCh38]
Chr5:96130836 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.*157_*172dup duplication not specified [RCV003490363] Chr5:96776223..96776224 [GRCh38]
Chr5:96111927..96111928 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.1045A>G (p.Met349Val) single nucleotide variant not specified [RCV003490390] Chr5:96793832 [GRCh38]
Chr5:96129535 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.524+40G>A single nucleotide variant not specified [RCV003490391] Chr5:96803363 [GRCh38]
Chr5:96139066 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2671-29T>A single nucleotide variant not specified [RCV003490411] Chr5:96776580 [GRCh38]
Chr5:96112284 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2188C>G (p.Gln730Glu) single nucleotide variant not specified [RCV003490426] Chr5:96783148 [GRCh38]
Chr5:96118852 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2447+97C>T single nucleotide variant not specified [RCV003490434] Chr5:96781596 [GRCh38]
Chr5:96117300 [GRCh37]
Chr5:5q15		 benign
NM_001040458.3(ERAP1):c.2100+47_2100+48dup duplication not specified [RCV003490287] Chr5:96783875..96783876 [GRCh38]
Chr5:96119579..96119580 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2058T>C (p.His686=) single nucleotide variant not provided [RCV003559169] Chr5:96766073 [GRCh38]
Chr5:96101777 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.1525-59C>G single nucleotide variant not specified [RCV003490430] Chr5:96788744 [GRCh38]
Chr5:96124447 [GRCh37]
Chr5:5q15		 benign
NM_001750.7(CAST):c.2037+27_2037+28insTAAAAAAAAAAAAAAAAAAAAA microsatellite not provided [RCV003568637] Chr5:96765331..96765332 [GRCh38]
Chr5:96101035..96101036 [GRCh37]
Chr5:5q15		 likely benign
NM_001750.7(CAST):c.2033_2037del (p.Val678fs) microsatellite not provided [RCV003853834] Chr5:96765316..96765320 [GRCh38]
Chr5:96101020..96101024 [GRCh37]
Chr5:5q15		 pathogenic
GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1 copy number loss not specified [RCV003986577] Chr5:93828571..123711334 [GRCh37]
Chr5:5q15-23.2		 pathogenic
GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3 copy number gain See cases [RCV004442826] Chr5:89923199..104256041 [GRCh37]
Chr5:5q14.3-21.2		 uncertain significance
NM_001750.7(CAST):c.2221C>T (p.Leu741=) single nucleotide variant CAST-related disorder [RCV003961831] Chr5:96767952 [GRCh38]
Chr5:96103656 [GRCh37]
Chr5:5q15		 likely benign
NM_001750.7(CAST):c.1956T>C (p.Asp652=) single nucleotide variant not provided [RCV003885542] Chr5:96765244 [GRCh38]
Chr5:96100948 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.2669A>C (p.Glu890Ala) single nucleotide variant not specified [RCV004380457] Chr5:96780424 [GRCh38]
Chr5:96116128 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1162A>G (p.Ser388Gly) single nucleotide variant not specified [RCV004380448] Chr5:96793426 [GRCh38]
Chr5:96129129 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1666G>A (p.Ala556Thr) single nucleotide variant not specified [RCV004380453] Chr5:96788544 [GRCh38]
Chr5:96124247 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.503G>A (p.Arg168Lys) single nucleotide variant not specified [RCV004380458] Chr5:96803424 [GRCh38]
Chr5:96139127 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.658C>A (p.Pro220Thr) single nucleotide variant not specified [RCV004380461] Chr5:96800867 [GRCh38]
Chr5:96136570 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.949G>A (p.Gly317Ser) single nucleotide variant not specified [RCV004380463] Chr5:96793928 [GRCh38]
Chr5:96129631 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2284A>G (p.Asn762Asp) single nucleotide variant not specified [RCV004380469] Chr5:96909694 [GRCh38]
Chr5:96245398 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2317C>A (p.Leu773Ile) single nucleotide variant not specified [RCV004380470] Chr5:96909727 [GRCh38]
Chr5:96245431 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2582C>T (p.Ala861Val) single nucleotide variant not specified [RCV004380471] Chr5:96913382 [GRCh38]
Chr5:96249086 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1486T>C (p.Trp496Arg) single nucleotide variant not specified [RCV004380465] Chr5:96896846 [GRCh38]
Chr5:96232550 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.2138C>G (p.Pro713Arg) single nucleotide variant Inborn genetic diseases [RCV004430007] Chr5:96767445 [GRCh38]
Chr5:96103149 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.2198C>G (p.Pro733Arg) single nucleotide variant Inborn genetic diseases [RCV004430008] Chr5:96767929 [GRCh38]
Chr5:96103633 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1219G>A (p.Ala407Thr) single nucleotide variant not specified [RCV004380450] Chr5:96792162 [GRCh38]
Chr5:96127865 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.538A>G (p.Thr180Ala) single nucleotide variant not specified [RCV004380459] Chr5:96800987 [GRCh38]
Chr5:96136690 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.560C>G (p.Ala187Gly) single nucleotide variant not specified [RCV004380460] Chr5:96800965 [GRCh38]
Chr5:96136668 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.1921C>T (p.Arg641Cys) single nucleotide variant Inborn genetic diseases [RCV004430005] Chr5:96762361 [GRCh38]
Chr5:96098065 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.2086A>G (p.Thr696Ala) single nucleotide variant Inborn genetic diseases [RCV004430006] Chr5:96766101 [GRCh38]
Chr5:96101805 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1216G>A (p.Asp406Asn) single nucleotide variant not specified [RCV004380449] Chr5:96792165 [GRCh38]
Chr5:96127868 [GRCh37]
Chr5:5q15		 likely benign
NM_001040458.3(ERAP1):c.1339A>G (p.Met447Val) single nucleotide variant not specified [RCV004380451] Chr5:96790625 [GRCh38]
Chr5:96126328 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1736G>A (p.Arg579Gln) single nucleotide variant not specified [RCV004380455] Chr5:96786493 [GRCh38]
Chr5:96122197 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.645G>C (p.Leu215Phe) single nucleotide variant not specified [RCV004380472] Chr5:96883861 [GRCh38]
Chr5:96219565 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1482G>A (p.Met494Ile) single nucleotide variant not specified [RCV004380452] Chr5:96790338 [GRCh38]
Chr5:96126041 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001750.7(CAST):c.2324C>T (p.Ala775Val) single nucleotide variant Inborn genetic diseases [RCV004430009] Chr5:96770586 [GRCh38]
Chr5:96106290 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1691A>G (p.His564Arg) single nucleotide variant not specified [RCV004380454] Chr5:96786538 [GRCh38]
Chr5:96122242 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2155G>A (p.Glu719Lys) single nucleotide variant not specified [RCV004380456] Chr5:96783181 [GRCh38]
Chr5:96118885 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.818C>T (p.Pro273Leu) single nucleotide variant not specified [RCV004380462] Chr5:96795143 [GRCh38]
Chr5:96130846 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.16G>A (p.Ala6Thr) single nucleotide variant not specified [RCV004380466] Chr5:96879701 [GRCh38]
Chr5:96215405 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2114C>T (p.Ser705Leu) single nucleotide variant not specified [RCV004380468] Chr5:96909062 [GRCh38]
Chr5:96244766 [GRCh37]
Chr5:5q15		 likely benign
NM_022350.5(ERAP2):c.884A>T (p.Gln295Leu) single nucleotide variant not specified [RCV004380473] Chr5:96889219 [GRCh38]
Chr5:96224923 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.176G>T (p.Gly59Val) single nucleotide variant not specified [RCV004380467] Chr5:96879861 [GRCh38]
Chr5:96215565 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2579T>C (p.Leu860Pro) single nucleotide variant not specified [RCV004617794] Chr5:96781067 [GRCh38]
Chr5:96116771 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2252G>A (p.Arg751His) single nucleotide variant not specified [RCV004617811] Chr5:96909662 [GRCh38]
Chr5:96245366 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.842G>A (p.Gly281Glu) single nucleotide variant not specified [RCV004617812] Chr5:96886782 [GRCh38]
Chr5:96222486 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2803A>G (p.Ser935Gly) single nucleotide variant not specified [RCV004617802] Chr5:96776419 [GRCh38]
Chr5:96112123 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1774T>A (p.Tyr592Asn) single nucleotide variant not specified [RCV004617815] Chr5:96902299 [GRCh38]
Chr5:96238003 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2693T>A (p.Ile898Asn) single nucleotide variant not specified [RCV004617806] Chr5:96915723 [GRCh38]
Chr5:96251427 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.583G>T (p.Ala195Ser) single nucleotide variant not specified [RCV004617807] Chr5:96883799 [GRCh38]
Chr5:96219503 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.797A>G (p.Tyr266Cys) single nucleotide variant not specified [RCV004617814] Chr5:96886737 [GRCh38]
Chr5:96222441 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1694T>C (p.Val565Ala) single nucleotide variant not specified [RCV004617797] Chr5:96786535 [GRCh38]
Chr5:96122239 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.640C>A (p.Leu214Ile) single nucleotide variant not specified [RCV004617800] Chr5:96800885 [GRCh38]
Chr5:96136588 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.236A>T (p.Asp79Val) single nucleotide variant not specified [RCV004617805] Chr5:96879921 [GRCh38]
Chr5:96215625 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2203G>A (p.Ala735Thr) single nucleotide variant not specified [RCV004617792] Chr5:96783133 [GRCh38]
Chr5:96118837 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1837G>C (p.Glu613Gln) single nucleotide variant not specified [RCV004617793] Chr5:96785894 [GRCh38]
Chr5:96121598 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2810A>C (p.Lys937Thr) single nucleotide variant not specified [RCV004617795] Chr5:96776412 [GRCh38]
Chr5:96112116 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.2288T>C (p.Leu763Pro) single nucleotide variant not specified [RCV004617796] Chr5:96781852 [GRCh38]
Chr5:96117556 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2534T>C (p.Met845Thr) single nucleotide variant not specified [RCV004617809] Chr5:96913334 [GRCh38]
Chr5:96249038 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.2177T>A (p.Leu726His) single nucleotide variant not specified [RCV004617813] Chr5:96909587 [GRCh38]
Chr5:96245291 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.91T>C (p.Trp31Arg) single nucleotide variant not specified [RCV004617798] Chr5:96803836 [GRCh38]
Chr5:96139539 [GRCh37]
Chr5:5q15		 uncertain significance
NM_001040458.3(ERAP1):c.1001T>C (p.Phe334Ser) single nucleotide variant not specified [RCV004617801] Chr5:96793876 [GRCh38]
Chr5:96129579 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1382T>A (p.Ile461Asn) single nucleotide variant not specified [RCV004617810] Chr5:96896742 [GRCh38]
Chr5:96232446 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.1685A>C (p.Gln562Pro) single nucleotide variant not specified [RCV004617803] Chr5:96901618 [GRCh38]
Chr5:96237322 [GRCh37]
Chr5:5q15		 uncertain significance
NM_022350.5(ERAP2):c.398C>G (p.Pro133Arg) single nucleotide variant not specified [RCV004617804] Chr5:96880083 [GRCh38]
Chr5:96215787 [GRCh37]
Chr5:5q15		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2279
Count of miRNA genes:1095
Interacting mature miRNAs:1321
Transcripts:ENST00000296754, ENST00000443439, ENST00000503311, ENST00000503921, ENST00000507154, ENST00000507859, ENST00000508227, ENST00000512852, ENST00000514604
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407259206GWAS908182_Hgenomic measurement QTL GWAS908182 (human)2e-15genomic measurement59689515496895155Human
407224647GWAS873623_Hankylosing spondylitis QTL GWAS873623 (human)6e-14ankylosing spondylitis59681203096812031Human
407133510GWAS782486_Hulcerative colitis QTL GWAS782486 (human)0.000004ulcerative colitis59691709996917100Human
406933058GWAS582034_Hsystolic blood pressure QTL GWAS582034 (human)4e-08systolic blood pressuresystolic blood pressure (CMO:0000004)59683451996834520Human
407029572GWAS678548_Hplatelet count QTL GWAS678548 (human)2e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)59679858096798581Human
407245134GWAS894110_Hsystolic blood pressure QTL GWAS894110 (human)4e-09systolic blood pressuresystolic blood pressure (CMO:0000004)59690981496909815Human
407253839GWAS902815_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS902815 (human)3e-198endoplasmic reticulum aminopeptidase 1 measurement59679772496797725Human
406970955GWAS619931_Hgranulysin measurement QTL GWAS619931 (human)5e-13granulysin measurement59689083196890832Human
406959178GWAS608154_Hsystolic blood pressure QTL GWAS608154 (human)4e-08cardiovascular diseasesystolic blood pressure (CMO:0000004)59682382096823821Human
407419204GWAS1068180_Hsystolic blood pressure QTL GWAS1068180 (human)1e-17systolic blood pressuresystolic blood pressure (CMO:0000004)59683848396838484Human
407261258GWAS910234_Hinflammatory bowel disease QTL GWAS910234 (human)7e-11inflammatory bowel disease59691210696912107Human
407133013GWAS781989_Hinflammatory bowel disease QTL GWAS781989 (human)5e-15inflammatory bowel disease59691709996917100Human
407168598GWAS817574_Hprotein measurement QTL GWAS817574 (human)4e-16protein measurement59682079196820792Human
407224656GWAS873632_Hankylosing spondylitis QTL GWAS873632 (human)5e-17ankylosing spondylitis59691688596916886Human
407253840GWAS902816_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS902816 (human)8e-120endoplasmic reticulum aminopeptidase 1 measurement59679858096798581Human
407087963GWAS736939_Hcerebrospinal fluid biomarker measurement QTL GWAS736939 (human)7e-22cerebrospinal fluid biomarker measurementcerebrospinal fluid chemistry measurement (CMO:0001241)59678657796786578Human
406945112GWAS594088_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS594088 (human)1e-2380endoplasmic reticulum aminopeptidase 1 measurement59678745796787458Human
407414865GWAS1063841_Hdiastolic blood pressure QTL GWAS1063841 (human)1e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)59683848396838484Human
406945114GWAS594090_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS594090 (human)1e-16endoplasmic reticulum aminopeptidase 1 measurement59679384096793841Human
406945117GWAS594093_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS594093 (human)1e-38endoplasmic reticulum aminopeptidase 1 measurement59684174796841752Human
406945116GWAS594092_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS594092 (human)1e-18endoplasmic reticulum aminopeptidase 1 measurement59680772596807726Human
406991711GWAS640687_Hsystolic blood pressure QTL GWAS640687 (human)8e-12systolic blood pressuresystolic blood pressure (CMO:0000004)59683848396838484Human
406945118GWAS594094_Hendoplasmic reticulum aminopeptidase 2 measurement QTL GWAS594094 (human)4e-589endoplasmic reticulum aminopeptidase 2 measurement59689514096895141Human
407219044GWAS868020_Hanterior uveitis QTL GWAS868020 (human)0.0000002anterior uveitis59679060596790606Human
407196004GWAS844980_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS844980 (human)4e-17endoplasmic reticulum aminopeptidase 1 measurement59683178296831783Human
407196007GWAS844983_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS844983 (human)3e-115endoplasmic reticulum aminopeptidase 1 measurement59678316296783163Human
407254116GWAS903092_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS903092 (human)1e-22endoplasmic reticulum aminopeptidase 1 measurement59693029796930298Human
407296613GWAS945589_Hsystolic blood pressure QTL GWAS945589 (human)1e-16systolic blood pressuresystolic blood pressure (CMO:0000004)59683848396838484Human
406945122GWAS594098_Hendoplasmic reticulum aminopeptidase 2 measurement QTL GWAS594098 (human)5e-4961endoplasmic reticulum aminopeptidase 2 measurement59691672896916729Human
407286112GWAS935088_Hphysical activity measurement QTL GWAS935088 (human)2e-09physical activity measurementvoluntary body movement measurement (CMO:0000954)59682906896829069Human
407003241GWAS652217_Hprotein measurement QTL GWAS652217 (human)2e-18protein measurement59678796396787964Human
407196008GWAS844984_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS844984 (human)6e-123endoplasmic reticulum aminopeptidase 1 measurement59680217996802180Human
407254123GWAS903099_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS903099 (human)1e-11endoplasmic reticulum aminopeptidase 1 measurement59682602496826025Human
407254120GWAS903096_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS903096 (human)2e-17endoplasmic reticulum aminopeptidase 1 measurement59689515496895155Human
407144564GWAS793540_Hpsoriasis QTL GWAS793540 (human)8e-21psoriasis59678314896783149Human
406893425GWAS542401_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS542401 (human)6e-308endoplasmic reticulum aminopeptidase 1 measurement59679431196794312Human
406893426GWAS542402_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS542402 (human)5e-137endoplasmic reticulum aminopeptidase 1 measurement59682096996820970Human
407339381GWAS988357_Hneutrophil count QTL GWAS988357 (human)1e-10neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)59689352196893522Human
407265653GWAS914629_Hprotein measurement QTL GWAS914629 (human)2e-17protein measurement59683183396831834Human
407297394GWAS946370_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS946370 (human)3e-287endoplasmic reticulum aminopeptidase 1 measurement59680354796803548Human
407214706GWAS863682_Hblood protein measurement QTL GWAS863682 (human)6e-297blood protein measurementblood protein measurement (CMO:0000028)59678544396785444Human
406893432GWAS542408_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS542408 (human)2e-14endoplasmic reticulum aminopeptidase 1 measurement59677119596771196Human
406893434GWAS542410_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS542410 (human)1e-321endoplasmic reticulum aminopeptidase 1 measurement59678316296783163Human
407247997GWAS896973_Hprotein measurement QTL GWAS896973 (human)9e-09protein measurement59682428996824290Human
407217528GWAS866504_Hintelligence QTL GWAS866504 (human)0.000002intelligence59682890896828909Human
406886014GWAS534990_Hautoimmune thyroid disease, systemic lupus erythematosus, type 1 diabetes mellitus, ankylosing spondylitis, psoriasis, common variable immunodeficiency, celiac disease, ulcerative colitis, Crohn's disease, autoimmune disease, juvenile idiopathic arthritis QTL GWAS534990 (human)9e-08autoimmune thyroid disease, systemic lupus erythematosus, type 1 diabetes mellitus, ankylosing spondylitis, psoriasis, common variable immunodeficiency, celiac disease, ulcerative colitis, Crohn's disease, autoimmune disease, juvenile idiopathic arthritis59688817696888177Human
407129467GWAS778443_HCrohn's disease QTL GWAS778443 (human)1e-10Crohn's disease59690884596908846Human
407363079GWAS1012055_HAgents acting on the renin-angiotensin system use measurement QTL GWAS1012055 (human)1e-09Agents acting on the renin-angiotensin system use measurement59678435096784351Human
407206405GWAS855381_Hprotein measurement QTL GWAS855381 (human)2e-13protein measurement59684364396843644Human
407146501GWAS795477_Hanterior uveitis QTL GWAS795477 (human)2e-16anterior uveitis59678544896785449Human
407191558GWAS840534_Hprotein measurement QTL GWAS840534 (human)5e-10protein measurement59686859296868593Human
407251715GWAS900691_Hprotein measurement QTL GWAS900691 (human)6e-12protein measurement59678544896785449Human
407412739GWAS1061715_Hhypertension QTL GWAS1061715 (human)1e-08hypertension59679380996793810Human
407253771GWAS902747_Hgenomic measurement QTL GWAS902747 (human)5e-11genomic measurement59689515496895155Human
407413784GWAS1062760_Hsystolic blood pressure QTL GWAS1062760 (human)0.000002systolic blood pressuresystolic blood pressure (CMO:0000004)59691911396919114Human
407184147GWAS833123_Hblood protein measurement QTL GWAS833123 (human)1e-64blood protein measurementblood protein measurement (CMO:0000028)59690884596908846Human
407227165GWAS876141_Hurate measurement, body mass index QTL GWAS876141 (human)0.000002urate measurement, body mass indexbody mass index (BMI) (CMO:0000105)59685128596851286Human
407419155GWAS1068131_Hpulse pressure measurement QTL GWAS1068131 (human)9e-09pulse pressure measurementpulse pressure (CMO:0000292)59683848396838484Human
406890015GWAS538991_Hpsoriasis QTL GWAS538991 (human)2e-20psoriasis59678356996783570Human
406952736GWAS601712_Hprotein measurement QTL GWAS601712 (human)7e-39protein measurement59683032396830324Human
407347238GWAS996214_Hsystolic blood pressure QTL GWAS996214 (human)5e-12systolic blood pressuresystolic blood pressure (CMO:0000004)59684364396843644Human
407409706GWAS1058682_Hdiastolic blood pressure QTL GWAS1058682 (human)2e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)59678314896783149Human
407055393GWAS704369_Hcolorectal cancer QTL GWAS704369 (human)7e-08colorectal cancer59679416996794171Human
407090471GWAS739447_Hbody mass index QTL GWAS739447 (human)6e-21body mass indexbody mass index (BMI) (CMO:0000105)59676624096766241Human
407016999GWAS665975_HHodgkins lymphoma QTL GWAS665975 (human)0.000007Hodgkins lymphoma59676624096766241Human
407251235GWAS900211_Hfrontal fibrosing alopecia QTL GWAS900211 (human)0.0000004frontal fibrosing alopecia59681203096812031Human
406908198GWAS557174_Hankylosing spondylitis QTL GWAS557174 (human)1e-41ankylosing spondylitis59678862796788628Human
407297070GWAS946046_Hmood instability measurement QTL GWAS946046 (human)0.000009mood instability measurement59678922796789228Human
407090472GWAS739448_Hbody mass index QTL GWAS739448 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)59681035396810354Human
407059245GWAS708221_Hankylosing spondylitis QTL GWAS708221 (human)2e-27ankylosing spondylitis59678862796788628Human
407239211GWAS888187_Hdiastolic blood pressure QTL GWAS888187 (human)1e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)59690981496909815Human
407028027GWAS677003_HBehcet's syndrome QTL GWAS677003 (human)5e-11Behcet's syndrome59678316296783163Human
407104570GWAS753546_Hprotein measurement QTL GWAS753546 (human)1e-21protein measurement59678387596783876Human
407006267GWAS655243_HCrohn's disease QTL GWAS655243 (human)1e-14Crohn's disease59691709996917100Human
407203384GWAS852360_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS852360 (human)5e-11attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement59690287496902875Human
407028028GWAS677004_HBehcet's syndrome QTL GWAS677004 (human)4e-08Behcet's syndrome59678316296783163Human
407408328GWAS1057304_Hsystolic blood pressure QTL GWAS1057304 (human)2e-11systolic blood pressuresystolic blood pressure (CMO:0000004)59678314896783149Human
407265734GWAS914710_Hplatelet count QTL GWAS914710 (human)7e-20platelet quantity (VT:0003179)platelet count (CMO:0000029)59678548096785481Human
407049923GWAS698899_Heducational attainment QTL GWAS698899 (human)2e-08educational attainment59689383896893839Human
407408329GWAS1057305_Hsystolic blood pressure QTL GWAS1057305 (human)8e-10systolic blood pressuresystolic blood pressure (CMO:0000004)59678862796788628Human
407049922GWAS698898_Heducational attainment QTL GWAS698898 (human)0.0000002educational attainment59681808796818088Human
407251908GWAS900884_Huveitis QTL GWAS900884 (human)4e-09uveitis59676551696765517Human
407408330GWAS1057306_Hsystolic blood pressure QTL GWAS1057306 (human)1e-10systolic blood pressuresystolic blood pressure (CMO:0000004)59679380996793810Human
407408331GWAS1057307_Hsystolic blood pressure QTL GWAS1057307 (human)2e-11systolic blood pressuresystolic blood pressure (CMO:0000004)59680354796803548Human
407408332GWAS1057308_Hsystolic blood pressure QTL GWAS1057308 (human)5e-09systolic blood pressuresystolic blood pressure (CMO:0000004)59689529696895297Human
407130560GWAS779536_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS779536 (human)2e-21ankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis59691688596916886Human
407130561GWAS779537_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS779537 (human)4e-12ankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis59683922696839227Human
407408333GWAS1057309_Hsystolic blood pressure QTL GWAS1057309 (human)4e-10systolic blood pressuresystolic blood pressure (CMO:0000004)59690884596908846Human
407408334GWAS1057310_Hsystolic blood pressure QTL GWAS1057310 (human)7e-09systolic blood pressuresystolic blood pressure (CMO:0000004)59690973596909736Human
407408335GWAS1057311_Hsystolic blood pressure QTL GWAS1057311 (human)1e-08systolic blood pressuresystolic blood pressure (CMO:0000004)59691911396919114Human
407179468GWAS828444_Hprotein measurement QTL GWAS828444 (human)9e-19protein measurement59677553696775537Human
407346893GWAS995869_Hdiastolic blood pressure QTL GWAS995869 (human)7e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)59689157496891575Human
407244490GWAS893466_Hanterior uveitis QTL GWAS893466 (human)1e-08anterior uveitis59677552496775525Human
407146697GWAS795673_Hanterior uveitis QTL GWAS795673 (human)0.000009anterior uveitis59678544896785449Human
406893517GWAS542493_Hendoplasmic reticulum aminopeptidase 2 measurement QTL GWAS542493 (human)4e-230endoplasmic reticulum aminopeptidase 2 measurement59690355496903555Human
406893518GWAS542494_Hendoplasmic reticulum aminopeptidase 2 measurement QTL GWAS542494 (human)2e-41endoplasmic reticulum aminopeptidase 2 measurement59689535296895353Human
407100627GWAS749603_Hpsoriasis QTL GWAS749603 (human)1e-09psoriasis59678446696784467Human
407246550GWAS895526_Hserum metabolite measurement QTL GWAS895526 (human)2e-19serum metabolite measurement59685296396852964Human
407000531GWAS649507_Hinflammatory bowel disease QTL GWAS649507 (human)1e-10inflammatory bowel disease59691709996917100Human
406919634GWAS568610_Hsystolic blood pressure QTL GWAS568610 (human)5e-10systolic blood pressuresystolic blood pressure (CMO:0000004)59678475196784752Human
407338705GWAS987681_Hleukocyte count QTL GWAS987681 (human)0.0000002leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)59689352196893522Human
407299281GWAS948257_Hprotein measurement QTL GWAS948257 (human)6e-16protein measurement59678314896783149Human
407178194GWAS827170_Hdiastolic blood pressure change measurement QTL GWAS827170 (human)0.000009diastolic blood pressure change measurementchange in diastolic blood pressure (CMO:0001016)59687746796877468Human
407249894GWAS898870_Haspartate aminotransferase measurement QTL GWAS898870 (human)8e-12aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)59689850896898509Human
407407842GWAS1056818_Hhypertension QTL GWAS1056818 (human)4e-08hypertension59678862796788628Human
407407843GWAS1056819_Hhypertension QTL GWAS1056819 (human)1e-09hypertension59680354796803548Human
407033325GWAS682301_Hpsoriasis vulgaris QTL GWAS682301 (human)0.0000001psoriasis vulgaris59678356996783570Human
407413752GWAS1062728_Hdiastolic blood pressure QTL GWAS1062728 (human)7e-15diastolic blood pressurediastolic blood pressure (CMO:0000005)59690973596909736Human
407413753GWAS1062729_Hdiastolic blood pressure QTL GWAS1062729 (human)2e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)59691911396919114Human
407394812GWAS1043788_Hhigh density lipoprotein cholesterol measurement QTL GWAS1043788 (human)2e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)59677022296770223Human
407229169GWAS878145_Hsystolic blood pressure QTL GWAS878145 (human)0.0000007systolic blood pressuresystolic blood pressure (CMO:0000004)59690981496909815Human
406914294GWAS563270_Halcohol dependence QTL GWAS563270 (human)0.000007alcohol dependence59677566796775668Human
407179517GWAS828493_Hprotein measurement QTL GWAS828493 (human)2e-12protein measurement59676624096766241Human
406955000GWAS603976_Hankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis QTL GWAS603976 (human)6e-54ankylosing spondylitis, psoriasis, ulcerative colitis, Crohn's disease, sclerosing cholangitis59678601196786012Human
407413748GWAS1062724_Hdiastolic blood pressure QTL GWAS1062724 (human)7e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)59678862796788628Human
406908157GWAS557133_Hankylosing spondylitis QTL GWAS557133 (human)4e-45ankylosing spondylitis59678862796788628Human
406999807GWAS648783_Hankylosing spondylitis QTL GWAS648783 (human)1e-09ankylosing spondylitis59679060596790606Human
407413749GWAS1062725_Hdiastolic blood pressure QTL GWAS1062725 (human)8e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)59679380996793810Human
407413750GWAS1062726_Hdiastolic blood pressure QTL GWAS1062726 (human)1e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)59689529696895297Human
407413751GWAS1062727_Hdiastolic blood pressure QTL GWAS1062727 (human)1e-15diastolic blood pressurediastolic blood pressure (CMO:0000005)59690884596908846Human
407310982GWAS959958_Hprotein measurement QTL GWAS959958 (human)3e-10protein measurement59683032396830324Human
407312516GWAS961492_Hneutrophil percentage of leukocytes QTL GWAS961492 (human)2e-09neutrophil percentage of leukocytesblood neutrophil count to total leukocyte count ratio (CMO:0000370)59692929696929297Human
407102087GWAS751063_Hprotein measurement QTL GWAS751063 (human)9e-13protein measurement59678363596783636Human
407345026GWAS994002_Hplatelet count QTL GWAS994002 (human)2e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)59678548096785481Human
407079812GWAS728788_Hprotein measurement QTL GWAS728788 (human)7e-22protein measurement59679220296792203Human
407413632GWAS1062608_Hdiastolic blood pressure QTL GWAS1062608 (human)2e-12diastolic blood pressurediastolic blood pressure (CMO:0000005)59678314896783149Human
407026825GWAS675801_Hankylosing spondylitis QTL GWAS675801 (human)5e-12ankylosing spondylitis59679380996793810Human
407005837GWAS654813_Hpsoriasis QTL GWAS654813 (human)3e-11psoriasis59676624096766241Human
407146389GWAS795365_Hinflammatory bowel disease QTL GWAS795365 (human)6e-13inflammatory bowel disease59691709996917100Human
407413658GWAS1062634_Hsystolic blood pressure QTL GWAS1062634 (human)0.0000002systolic blood pressuresystolic blood pressure (CMO:0000004)59678314896783149Human
407101073GWAS750049_Hprotein measurement QTL GWAS750049 (human)4e-18protein measurement59680698896806990Human
407413659GWAS1062635_Hsystolic blood pressure QTL GWAS1062635 (human)0.000001systolic blood pressuresystolic blood pressure (CMO:0000004)59678862796788628Human
407413660GWAS1062636_Hsystolic blood pressure QTL GWAS1062636 (human)0.0000001systolic blood pressuresystolic blood pressure (CMO:0000004)59679380996793810Human
407413661GWAS1062637_Hsystolic blood pressure QTL GWAS1062637 (human)6e-10systolic blood pressuresystolic blood pressure (CMO:0000004)59680354796803548Human
407413662GWAS1062638_Hsystolic blood pressure QTL GWAS1062638 (human)0.0000006systolic blood pressuresystolic blood pressure (CMO:0000004)59689529696895297Human
407099028GWAS748004_Hpsoriasis QTL GWAS748004 (human)2e-08psoriasis59676624096766241Human
407413663GWAS1062639_Hsystolic blood pressure QTL GWAS1062639 (human)0.0000001systolic blood pressuresystolic blood pressure (CMO:0000004)59690884596908846Human
407218844GWAS867820_Hprotein measurement QTL GWAS867820 (human)4e-10protein measurement59676425496764255Human
407106202GWAS755178_Hpsoriasis, type 2 diabetes mellitus QTL GWAS755178 (human)2e-11psoriasis, type 2 diabetes mellitus59678446696784467Human
407280287GWAS929263_Hprotein measurement QTL GWAS929263 (human)6e-11protein measurement59685296396852964Human
407185054GWAS834030_Hendoplasmic reticulum aminopeptidase 1 measurement QTL GWAS834030 (human)6e-79endoplasmic reticulum aminopeptidase 1 measurement59678655696786557Human
407014302GWAS663278_Hmean platelet volume QTL GWAS663278 (human)2e-11mean platelet volumemean platelet volume (CMO:0001348)59678862796788628Human
407204517GWAS853493_Hprotein measurement QTL GWAS853493 (human)3e-08protein measurement59677637996776380Human
407409832GWAS1058808_Hdiastolic blood pressure QTL GWAS1058808 (human)2e-12diastolic blood pressurediastolic blood pressure (CMO:0000005)59690884596908846Human
407409833GWAS1058809_Hdiastolic blood pressure QTL GWAS1058809 (human)2e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)59690973596909736Human
407329189GWAS978165_Hbody mass index QTL GWAS978165 (human)0.0000008body mass indexbody mass index (BMI) (CMO:0000105)59681605796816058Human
407409834GWAS1058810_Hdiastolic blood pressure QTL GWAS1058810 (human)4e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)59691911396919114Human
406995361GWAS644337_Hlevel of endoplasmic reticulum aminopeptidase 2 in blood serum QTL GWAS644337 (human)7e-161level of endoplasmic reticulum aminopeptidase 2 in blood serum59691672896916729Human
407270818GWAS919794_Hbody height QTL GWAS919794 (human)3e-37body height (VT:0001253)body height (CMO:0000106)59679020796790208Human
407263651GWAS912627_Hjuvenile idiopathic arthritis QTL GWAS912627 (human)3e-09juvenile idiopathic arthritis59689352196893522Human
407413664GWAS1062640_Hsystolic blood pressure QTL GWAS1062640 (human)0.000001systolic blood pressuresystolic blood pressure (CMO:0000004)59690973596909736Human
407211695GWAS860671_Hneutrophil count QTL GWAS860671 (human)4e-14neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)59691688596916886Human
407409829GWAS1058805_Hdiastolic blood pressure QTL GWAS1058805 (human)0.0000005diastolic blood pressurediastolic blood pressure (CMO:0000005)59678862796788628Human
407336362GWAS985338_Hsystolic blood pressure QTL GWAS985338 (human)3e-09systolic blood pressuremean arterial blood pressure (CMO:0000009)59684708396847092Human
407409830GWAS1058806_Hdiastolic blood pressure QTL GWAS1058806 (human)0.000002diastolic blood pressurediastolic blood pressure (CMO:0000005)59679380996793810Human
407409831GWAS1058807_Hdiastolic blood pressure QTL GWAS1058807 (human)3e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)59689529696895297Human
407087281GWAS736257_Hblood protein measurement QTL GWAS736257 (human)1e-375blood protein measurementblood protein measurement (CMO:0000028)59679847296798473Human
407015352GWAS664328_HCalcium channel blocker use measurement QTL GWAS664328 (human)3e-09Calcium channel blocker use measurement59678001796780018Human
406940347GWAS589323_Hprotein measurement QTL GWAS589323 (human)7e-70protein measurement59678675496786755Human
407131582GWAS780558_HCrohn's disease QTL GWAS780558 (human)4e-16Crohn's disease59691709996917100Human
407230142GWAS879118_Hdiastolic blood pressure QTL GWAS879118 (human)3e-11diastolic blood pressurediastolic blood pressure (CMO:0000005)59690981496909815Human
406893502GWAS542478_Hendoplasmic reticulum aminopeptidase 2 measurement QTL GWAS542478 (human)7e-858endoplasmic reticulum aminopeptidase 2 measurement59691672896916729Human
407317944GWAS966920_Hplatelet crit QTL GWAS966920 (human)1e-10platelet critplateletcrit (CMO:0001349)59678548096785481Human
407225018GWAS873994_Hpsoriasis QTL GWAS873994 (human)2e-08psoriasis59691688596916886Human

Markers in Region
D5S2413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,105,184 - 96,105,458UniSTSGRCh37
Build 36596,130,940 - 96,131,214RGDNCBI36
Celera591,989,606 - 91,989,880RGD
Cytogenetic Map5q15UniSTS
HuRef591,295,436 - 91,295,710UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH47549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,096,577 - 96,096,739UniSTSGRCh37
Build 36596,122,333 - 96,122,495RGDNCBI36
Celera591,981,000 - 91,981,162RGD
Cytogenetic Map5q15UniSTS
HuRef591,286,832 - 91,286,994UniSTS
GeneMap99-GB4 RH Map5415.35UniSTS
NCBI RH Map5597.9UniSTS
RH45579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,112,412 - 96,112,577UniSTSGRCh37
Build 36596,138,168 - 96,138,333RGDNCBI36
Celera591,996,826 - 91,996,991RGD
Cytogenetic Map5q15UniSTS
HuRef591,302,671 - 91,302,836UniSTS
GeneMap99-GB4 RH Map5417.89UniSTS
NCBI RH Map5591.4UniSTS
RH80470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,112,368 - 96,112,576UniSTSGRCh37
Build 36596,138,124 - 96,138,332RGDNCBI36
Celera591,996,782 - 91,996,990RGD
Cytogenetic Map5q15UniSTS
HuRef591,302,627 - 91,302,835UniSTS
GeneMap99-GB4 RH Map5415.74UniSTS
D5S1787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,110,842 - 96,110,959UniSTSGRCh37
Build 36596,136,598 - 96,136,715RGDNCBI36
Celera591,995,264 - 91,995,381RGD
Cytogenetic Map5q15UniSTS
HuRef591,301,093 - 91,301,210UniSTS
RH69827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,108,761 - 96,108,895UniSTSGRCh37
Build 36596,134,517 - 96,134,651RGDNCBI36
Celera591,993,183 - 91,993,317RGD
Cytogenetic Map5q15UniSTS
HuRef591,299,012 - 91,299,146UniSTS
GeneMap99-GB4 RH Map5419.82UniSTS
NCBI RH Map5591.4UniSTS
ARTS-1__4376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,096,487 - 96,097,274UniSTSGRCh37
Build 36596,122,243 - 96,123,030RGDNCBI36
Celera591,980,910 - 91,981,697RGD
HuRef591,286,742 - 91,287,529UniSTS
G16055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,141,506 - 96,141,733UniSTSGRCh37
Build 36596,167,262 - 96,167,489RGDNCBI36
Celera592,025,914 - 92,026,141RGD
Cytogenetic Map5q15UniSTS
HuRef591,331,752 - 91,331,979UniSTS
WI-18741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,115,047 - 96,115,174UniSTSGRCh37
Build 36596,140,803 - 96,140,930RGDNCBI36
Celera591,999,461 - 91,999,588RGD
Cytogenetic Map5q15UniSTS
HuRef591,305,306 - 91,305,433UniSTS
GeneMap99-GB4 RH Map5417.89UniSTS
Whitehead-RH Map5315.1UniSTS
D5S2667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,108,762 - 96,108,891UniSTSGRCh37
Build 36596,134,518 - 96,134,647RGDNCBI36
Celera591,993,184 - 91,993,313RGD
Cytogenetic Map5q15UniSTS
HuRef591,299,013 - 91,299,142UniSTS
SHGC-60474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,111,489 - 96,111,578UniSTSGRCh37
Build 36596,137,245 - 96,137,334RGDNCBI36
Celera591,995,903 - 91,995,992RGD
Cytogenetic Map5q15UniSTS
HuRef591,301,732 - 91,301,821UniSTS
TNG Radiation Hybrid Map543194.0UniSTS
D5S1571E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,110,184 - 96,110,309UniSTSGRCh37
Build 36596,135,940 - 96,136,065RGDNCBI36
Celera591,994,606 - 91,994,731RGD
Cytogenetic Map5q15UniSTS
HuRef591,300,435 - 91,300,560UniSTS
GeneMap99-GB4 RH Map5419.82UniSTS
NCBI RH Map5591.4UniSTS
D5S2629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,105,274 - 96,105,411UniSTSGRCh37
Build 36596,131,030 - 96,131,167RGDNCBI36
Celera591,989,696 - 91,989,833RGD
Cytogenetic Map5q15UniSTS
HuRef591,295,526 - 91,295,663UniSTS
Stanford-G3 RH Map53519.0UniSTS
NCBI RH Map5591.4UniSTS
GeneMap99-G3 RH Map53514.0UniSTS
RH70772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37596,110,228 - 96,110,311UniSTSGRCh37
Build 36596,135,984 - 96,136,067RGDNCBI36
Celera591,994,650 - 91,994,733RGD
Cytogenetic Map5q15UniSTS
HuRef591,300,479 - 91,300,562UniSTS
GeneMap99-GB4 RH Map5419.82UniSTS
NCBI RH Map5591.4UniSTS
STS-D29461  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q15UniSTS
HuRef591,300,327 - 91,300,557UniSTS
GeneMap99-GB4 RH Map5421.04UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047417312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001742119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF106037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF183569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF222340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI291936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP358233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA327238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA704693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC398730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX962699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX962700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX962701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX962702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM357891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR857680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY471637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY491660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK140632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK252970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA988423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000296754   ⟹   ENSP00000296754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,760,810 - 96,808,100 (-)Ensembl
Ensembl Acc Id: ENST00000443439   ⟹   ENSP00000406304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,774,484 - 96,807,945 (-)Ensembl
Ensembl Acc Id: ENST00000503311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,790,585 - 96,793,671 (-)Ensembl
Ensembl Acc Id: ENST00000503921   ⟹   ENSP00000427025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,797,247 - 96,807,922 (-)Ensembl
Ensembl Acc Id: ENST00000507154   ⟹   ENSP00000421697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,803,540 - 96,807,922 (-)Ensembl
Ensembl Acc Id: ENST00000507859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,785,639 - 96,790,626 (-)Ensembl
Ensembl Acc Id: ENST00000508227   ⟹   ENSP00000422631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,800,934 - 96,807,922 (-)Ensembl
Ensembl Acc Id: ENST00000512852   ⟹   ENSP00000425381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,775,917 - 96,781,181 (-)Ensembl
Ensembl Acc Id: ENST00000514604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,781,694 - 96,786,760 (-)Ensembl
RefSeq Acc Id: NM_001040458   ⟹   NP_001035548
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,774,484 - 96,807,945 (-)NCBI
GRCh37596,096,514 - 96,149,848 (-)ENTREZGENE
Build 36596,135,944 - 96,169,648 (-)NCBI Archive
HuRef591,286,769 - 91,340,086 (-)ENTREZGENE
CHM1_1595,542,907 - 95,576,603 (-)NCBI
T2T-CHM13v2.0597,275,315 - 97,308,744 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001198541   ⟹   NP_001185470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,774,484 - 96,814,145 (-)NCBI
GRCh37596,096,514 - 96,149,848 (-)ENTREZGENE
HuRef591,286,769 - 91,340,086 (-)ENTREZGENE
CHM1_1595,542,907 - 95,582,553 (-)NCBI
T2T-CHM13v2.0597,275,315 - 97,314,923 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349244   ⟹   NP_001336173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,760,813 - 96,807,945 (-)NCBI
T2T-CHM13v2.0597,261,648 - 97,308,744 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016442   ⟹   NP_057526
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,760,813 - 96,807,945 (-)NCBI
GRCh37596,096,514 - 96,149,848 (-)ENTREZGENE
Build 36596,122,270 - 96,169,648 (-)NCBI Archive
HuRef591,286,769 - 91,340,086 (-)ENTREZGENE
CHM1_1595,529,237 - 95,576,603 (-)NCBI
T2T-CHM13v2.0597,261,648 - 97,308,744 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272015   ⟹   XP_005272072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,767,798 - 96,814,145 (-)NCBI
GRCh37596,096,514 - 96,149,848 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272016   ⟹   XP_005272073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,767,798 - 96,807,945 (-)NCBI
GRCh37596,096,514 - 96,149,848 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543484   ⟹   XP_011541786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,767,798 - 96,935,854 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543485   ⟹   XP_011541787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,767,798 - 96,935,854 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543486   ⟹   XP_011541788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,774,484 - 96,935,854 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009581   ⟹   XP_016865070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,767,798 - 96,935,854 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009583   ⟹   XP_016865072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,767,798 - 96,794,046 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047417305   ⟹   XP_047273261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,767,798 - 96,807,945 (-)NCBI
RefSeq Acc Id: XM_047417306   ⟹   XP_047273262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,767,798 - 96,807,945 (-)NCBI
RefSeq Acc Id: XM_047417307   ⟹   XP_047273263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,767,798 - 96,807,945 (-)NCBI
RefSeq Acc Id: XM_047417308   ⟹   XP_047273264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,760,813 - 96,807,945 (-)NCBI
RefSeq Acc Id: XM_047417309   ⟹   XP_047273265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,760,813 - 96,807,945 (-)NCBI
RefSeq Acc Id: XM_047417310   ⟹   XP_047273266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,760,813 - 96,935,854 (-)NCBI
RefSeq Acc Id: XM_047417311   ⟹   XP_047273267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,785,868 - 96,807,945 (-)NCBI
RefSeq Acc Id: XM_047417312   ⟹   XP_047273268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,785,868 - 96,807,945 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001035548 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185470 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336173 (Get FASTA)   NCBI Sequence Viewer  
  NP_057526 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272072 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272073 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541786 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541787 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541788 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865070 (Get FASTA)   NCBI Sequence Viewer  
  XP_016865072 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273261 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273262 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273263 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273264 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273265 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273266 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273267 (Get FASTA)   NCBI Sequence Viewer  
  XP_047273268 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF07395 (Get FASTA)   NCBI Sequence Viewer  
  AAF20384 (Get FASTA)   NCBI Sequence Viewer  
  AAF34664 (Get FASTA)   NCBI Sequence Viewer  
  AAH30775 (Get FASTA)   NCBI Sequence Viewer  
  AAK37777 (Get FASTA)   NCBI Sequence Viewer  
  AAK37778 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88953 (Get FASTA)   NCBI Sequence Viewer  
  AGR86647 (Get FASTA)   NCBI Sequence Viewer  
  AGR86648 (Get FASTA)   NCBI Sequence Viewer  
  AGR86649 (Get FASTA)   NCBI Sequence Viewer  
  AGR86650 (Get FASTA)   NCBI Sequence Viewer  
  AIY60612 (Get FASTA)   NCBI Sequence Viewer  
  AIY60613 (Get FASTA)   NCBI Sequence Viewer  
  AIY60614 (Get FASTA)   NCBI Sequence Viewer  
  AIY60615 (Get FASTA)   NCBI Sequence Viewer  
  AIY60616 (Get FASTA)   NCBI Sequence Viewer  
  AIY60617 (Get FASTA)   NCBI Sequence Viewer  
  AIY60618 (Get FASTA)   NCBI Sequence Viewer  
  AIY60619 (Get FASTA)   NCBI Sequence Viewer  
  AIY60620 (Get FASTA)   NCBI Sequence Viewer  
  AIY60621 (Get FASTA)   NCBI Sequence Viewer  
  AIY60622 (Get FASTA)   NCBI Sequence Viewer  
  AIY60623 (Get FASTA)   NCBI Sequence Viewer  
  AIY60624 (Get FASTA)   NCBI Sequence Viewer  
  AIY60625 (Get FASTA)   NCBI Sequence Viewer  
  AIY60626 (Get FASTA)   NCBI Sequence Viewer  
  AIY60627 (Get FASTA)   NCBI Sequence Viewer  
  AIY60628 (Get FASTA)   NCBI Sequence Viewer  
  AIY60629 (Get FASTA)   NCBI Sequence Viewer  
  AIY60630 (Get FASTA)   NCBI Sequence Viewer  
  AIY60631 (Get FASTA)   NCBI Sequence Viewer  
  AIY60632 (Get FASTA)   NCBI Sequence Viewer  
  AIY60633 (Get FASTA)   NCBI Sequence Viewer  
  ALK82303 (Get FASTA)   NCBI Sequence Viewer  
  AQT03317 (Get FASTA)   NCBI Sequence Viewer  
  AUN35149 (Get FASTA)   NCBI Sequence Viewer  
  AZZ69200 (Get FASTA)   NCBI Sequence Viewer  
  BAA25451 (Get FASTA)   NCBI Sequence Viewer  
  BAD96593 (Get FASTA)   NCBI Sequence Viewer  
  BAF84325 (Get FASTA)   NCBI Sequence Viewer  
  EAW96077 (Get FASTA)   NCBI Sequence Viewer  
  EAW96078 (Get FASTA)   NCBI Sequence Viewer  
  EAW96079 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000296754
  ENSP00000296754.3
  ENSP00000406304
  ENSP00000406304.2
  ENSP00000421697.1
  ENSP00000422631.1
  ENSP00000425381.1
GenBank Protein Q9NZ08 (Get FASTA)   NCBI Sequence Viewer  
  QBA86131 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_057526   ⟸   NM_016442
- Peptide Label: isoform a precursor
- UniProtKB: A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185470   ⟸   NM_001198541
- Peptide Label: isoform b precursor
- UniProtKB: Q9UHF8 (UniProtKB/Swiss-Prot),   Q8TAD0 (UniProtKB/Swiss-Prot),   Q8NEL4 (UniProtKB/Swiss-Prot),   Q6UWY6 (UniProtKB/Swiss-Prot),   O60278 (UniProtKB/Swiss-Prot),   Q9UKY2 (UniProtKB/Swiss-Prot),   Q9NZ08 (UniProtKB/Swiss-Prot),   A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035548   ⟸   NM_001040458
- Peptide Label: isoform b precursor
- UniProtKB: Q9UHF8 (UniProtKB/Swiss-Prot),   Q8TAD0 (UniProtKB/Swiss-Prot),   Q8NEL4 (UniProtKB/Swiss-Prot),   Q6UWY6 (UniProtKB/Swiss-Prot),   O60278 (UniProtKB/Swiss-Prot),   Q9UKY2 (UniProtKB/Swiss-Prot),   Q9NZ08 (UniProtKB/Swiss-Prot),   A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272072   ⟸   XM_005272015
- Peptide Label: isoform X1
- UniProtKB: A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272073   ⟸   XM_005272016
- Peptide Label: isoform X1
- UniProtKB: A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541787   ⟸   XM_011543485
- Peptide Label: isoform X1
- UniProtKB: A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541786   ⟸   XM_011543484
- Peptide Label: isoform X1
- UniProtKB: A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541788   ⟸   XM_011543486
- Peptide Label: isoform X2
- UniProtKB: Q9UHF8 (UniProtKB/Swiss-Prot),   Q8TAD0 (UniProtKB/Swiss-Prot),   Q8NEL4 (UniProtKB/Swiss-Prot),   Q6UWY6 (UniProtKB/Swiss-Prot),   O60278 (UniProtKB/Swiss-Prot),   Q9UKY2 (UniProtKB/Swiss-Prot),   Q9NZ08 (UniProtKB/Swiss-Prot),   A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865070   ⟸   XM_017009581
- Peptide Label: isoform X1
- UniProtKB: A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865072   ⟸   XM_017009583
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001336173   ⟸   NM_001349244
- Peptide Label: isoform a precursor
- UniProtKB: A0A0A7E7X3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000427025   ⟸   ENST00000503921
Ensembl Acc Id: ENSP00000296754   ⟸   ENST00000296754
Ensembl Acc Id: ENSP00000421697   ⟸   ENST00000507154
Ensembl Acc Id: ENSP00000422631   ⟸   ENST00000508227
Ensembl Acc Id: ENSP00000406304   ⟸   ENST00000443439
Ensembl Acc Id: ENSP00000425381   ⟸   ENST00000512852
RefSeq Acc Id: XP_047273266   ⟸   XM_047417310
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047273265   ⟸   XM_047417309
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047273264   ⟸   XM_047417308
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047273261   ⟸   XM_047417305
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047273262   ⟸   XM_047417306
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047273263   ⟸   XM_047417307
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047273268   ⟸   XM_047417312
- Peptide Label: isoform X5
- UniProtKB: A0A075BTL2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047273267   ⟸   XM_047417311
- Peptide Label: isoform X5
- UniProtKB: A0A075BTL2 (UniProtKB/TrEMBL)
Protein Domains
Aminopeptidase N-like N-terminal   ERAP1-like C-terminal   Peptidase M1 membrane alanine aminopeptidase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZ08-F1-model_v2 AlphaFold Q9NZ08 1-941 view protein structure

Promoters
RGD ID:6803168
Promoter ID:HG_KWN:50710
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001040458,   NM_016442
Position:
Human AssemblyChrPosition (strand)Source
Build 36596,169,286 - 96,169,977 (-)MPROMDB
RGD ID:6870148
Promoter ID:EPDNEW_H8239
Type:initiation region
Name:ERAP1_1
Description:endoplasmic reticulum aminopeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8240  EPDNEW_H8241  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,807,945 - 96,808,005EPDNEW
RGD ID:6870150
Promoter ID:EPDNEW_H8240
Type:initiation region
Name:ERAP1_3
Description:endoplasmic reticulum aminopeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8239  EPDNEW_H8241  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,808,108 - 96,808,168EPDNEW
RGD ID:6870152
Promoter ID:EPDNEW_H8241
Type:multiple initiation site
Name:ERAP1_2
Description:endoplasmic reticulum aminopeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8239  EPDNEW_H8240  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,808,352 - 96,808,412EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18173 AgrOrtholog
COSMIC ERAP1 COSMIC
Ensembl Genes ENSG00000164307 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296754 ENTREZGENE
  ENST00000296754.7 UniProtKB/Swiss-Prot
  ENST00000443439 ENTREZGENE
  ENST00000443439.7 UniProtKB/Swiss-Prot
  ENST00000507154.1 UniProtKB/TrEMBL
  ENST00000508227.5 UniProtKB/TrEMBL
  ENST00000512852.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.3480.20 UniProtKB/TrEMBL
  1.10.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.50.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1910 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164307 GTEx
HGNC ID HGNC:18173 ENTREZGENE
Human Proteome Map ERAP1 Human Proteome Map
InterPro Aminopeptidase_N-like_N UniProtKB/Swiss-Prot
  Aminopeptidase_N-like_N UniProtKB/Swiss-Prot
  Aminopeptidase_N-like_N UniProtKB/TrEMBL
  Aminopeptidase_N-like_N UniProtKB/TrEMBL
  ERAP1-like_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M1_APN-typ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1_aminopeptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M4/M1_CTD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51752 UniProtKB/Swiss-Prot
NCBI Gene 51752 ENTREZGENE
OMIM 606832 OMIM
PANTHER PROTEASE M1 ZINC METALLOPROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11533:SF156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ERAP1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162385163 PharmGKB
PRINTS ALADIPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ZINC_PROTEASE UniProtKB/Swiss-Prot
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63737 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075BSP6_HUMAN UniProtKB/TrEMBL
  A0A075BTL2 ENTREZGENE, UniProtKB/TrEMBL
  A0A075BV59_HUMAN UniProtKB/TrEMBL
  A0A075BW43_HUMAN UniProtKB/TrEMBL
  A0A0A7E6D4_HUMAN UniProtKB/TrEMBL
  A0A0A7E6D8_HUMAN UniProtKB/TrEMBL
  A0A0A7E6I2_HUMAN UniProtKB/TrEMBL
  A0A0A7E6J5_HUMAN UniProtKB/TrEMBL
  A0A0A7E6K0_HUMAN UniProtKB/TrEMBL
  A0A0A7E6P0_HUMAN UniProtKB/TrEMBL
  A0A0A7E6P4_HUMAN UniProtKB/TrEMBL
  A0A0A7E6P9_HUMAN UniProtKB/TrEMBL
  A0A0A7E7S5_HUMAN UniProtKB/TrEMBL
  A0A0A7E7T3_HUMAN UniProtKB/TrEMBL
  A0A0A7E7W5_HUMAN UniProtKB/TrEMBL
  A0A0A7E7W9_HUMAN UniProtKB/TrEMBL
  A0A0A7E7X3 ENTREZGENE, UniProtKB/TrEMBL
  A0A1D5RMR7_HUMAN UniProtKB/TrEMBL
  A0A1S6KJG9_HUMAN UniProtKB/TrEMBL
  A0A2I6QG18_HUMAN UniProtKB/TrEMBL
  A0A411F1U7_HUMAN UniProtKB/TrEMBL
  A0A451F4J3_HUMAN UniProtKB/TrEMBL
  D6RAL9_HUMAN UniProtKB/TrEMBL
  ERAP1_HUMAN UniProtKB/Swiss-Prot
  H0Y9X5_HUMAN UniProtKB/TrEMBL
  O60278 ENTREZGENE
  Q6UWY6 ENTREZGENE
  Q8NEL4 ENTREZGENE
  Q8TAD0 ENTREZGENE
  Q9NZ08 ENTREZGENE
  Q9UHF8 ENTREZGENE
  Q9UKY2 ENTREZGENE
UniProt Secondary O60278 UniProtKB/Swiss-Prot
  Q6UWY6 UniProtKB/Swiss-Prot
  Q8NEL4 UniProtKB/Swiss-Prot
  Q8TAD0 UniProtKB/Swiss-Prot
  Q9UHF8 UniProtKB/Swiss-Prot
  Q9UKY2 UniProtKB/Swiss-Prot