ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit) - Rat Genome Database
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Gene: ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit) Homo sapiens
Analyze
Symbol: ERCC1
Name: ERCC excision repair 1, endonuclease non-catalytic subunit
RGD ID: 1315921
HGNC Page HGNC
Description: Exhibits DNA binding activity; protein C-terminus binding activity; and protein domain specific binding activity. Contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity and DNA binding activity. Involved in DNA metabolic process; negative regulation of protection from non-homologous end joining at telomere; and response to oxidative stress. Localizes to nucleus. Implicated in several diseases, including bone cancer (multiple); carcinoma (multiple); hematologic cancer (multiple); kidney failure; and transient cerebral ischemia. Biomarker of gastrointestinal system cancer (multiple); hematologic cancer (multiple); lung non-small cell carcinoma; ovarian cancer; and transient cerebral ischemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: COFS4; DNA excision repair protein ERCC-1; excision repair cross-complementation group 1; excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence); RAD10; UV20
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1945,407,334 - 45,478,828 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1945,407,333 - 45,478,828 (-)EnsemblGRCh38hg38GRCh38
GRCh381945,407,334 - 45,451,547 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371945,910,591 - 45,982,241 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh371945,910,592 - 45,954,805 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,604,712 - 50,619,017 (-)NCBINCBI36hg18NCBI36
Build 341950,608,532 - 50,618,642NCBI
Celera1942,716,697 - 42,733,283 (-)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1942,340,919 - 42,357,653 (-)NCBIHuRef
CHM1_11945,913,883 - 45,930,469 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute lymphoblastic leukemia  (IAGP)
acute myeloid leukemia  (IAGP,IEP)
alcohol use disorder  (ISO)
anemia  (IAGP)
Arsenic Poisoning  (EXP)
azoospermia  (IAGP)
breast cancer  (IAGP)
Cerebrooculofacioskeletal Syndrome 4  (IAGP)
Chromosome Aberrations  (EXP)
Cockayne syndrome  (IAGP)
Colorectal Neoplasms  (IAGP)
degenerative disc disease  (ISO)
disease of cellular proliferation  (EXP)
Drug-induced Neutropenia  (IAGP)
Drug-Related Side Effects and Adverse Reactions  (IAGP)
esophagus adenocarcinoma  (IAGP)
esophagus squamous cell carcinoma  (IEP)
Experimental Diabetes Mellitus  (ISO)
Failure to Thrive  (IAGP)
Gastrointestinal Neoplasms  (IEP)
Genetic Predisposition to Disease  (EXP)
Germ Cell and Embryonal Neoplasms  (EXP)
high grade glioma  (IAGP)
Inflammation  (ISO)
kidney failure  (IAGP)
Laryngeal Neoplasms  (IAGP)
lipodystrophy  (ISO)
lung adenocarcinoma  (EXP)
lung carcinoma  (ISO)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (EXP,IAGP,IEP)
melanoma  (EXP)
multiple myeloma  (IAGP)
myelofibrosis  (IEP)
Myeloid Leukemia, Chronic-Phase  (IAGP)
Neoplasm Metastasis  (EXP,IEP)
osteoarthritis  (ISO)
osteoporosis  (ISO)
osteosarcoma  (IAGP)
ovarian cancer  (IEP)
ovary epithelial cancer  (IAGP)
pancreatic cancer  (IAGP)
peripheral nervous system disease  (EXP)
Premature Aging  (ISO)
Prostatic Neoplasms  (ISO)
Reperfusion Injury  (ISO)
stomach cancer  (IAGP,IEP)
Stomach Neoplasms  (EXP)
Testicular Neoplasms  (EXP)
transient cerebral ischemia  (IEP,IMP)
Uterine Cervical Neoplasms  (EXP)
xeroderma pigmentosum group D  (IAGP)
XFE progeroid syndrome  (ISS)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(-)-quinic acid  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-aminobenzamide  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-formyltetrahydrofolic acid  (EXP)
7,12-dimethyltetraphene  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
alpha-pinene  (EXP)
amphibole asbestos  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
azathioprine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
cadmium dichloride  (EXP,ISO)
camptothecin  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt atom  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
curcumin  (EXP,ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
D-glucose  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fonofos  (EXP)
furan  (ISO)
gefitinib  (EXP)
glucose  (EXP)
hydrogen peroxide  (EXP)
irinotecan  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
lead nitrate  (ISO)
lipopolysaccharide  (EXP)
lithium chloride  (EXP)
lovastatin  (ISO)
MeIQx  (EXP)
melatonin  (EXP)
methylseleninic acid  (EXP)
microcystin RR  (EXP)
myristicin  (EXP)
oxaliplatin  (EXP)
ozone  (EXP)
paracetamol  (ISO)
paraquat  (EXP)
PD 0325901  (EXP)
pemetrexed  (EXP)
PhIP  (EXP)
pinosylvin  (EXP)
pirinixic acid  (EXP)
platinum  (EXP)
platinum(0)  (EXP)
prochloraz  (ISO)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
quercitrin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP)
streptozocin  (ISO)
sunitinib  (EXP)
Tanshinone I  (EXP)
tetrachloromethane  (ISO)
tetraphene  (EXP)
theaflavin  (ISO)
trans-pinosylvin  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
usnic acid  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
veliparib  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
Y-27632  (EXP)
zinc atom  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cell development  (ISO)
cell population proliferation  (IEA,ISO)
cellular response to DNA damage stimulus  (ISO)
chromosome organization  (ISO)
DNA recombination  (IGI,ISO)
DNA repair  (IEA,IMP,ISO)
double-strand break repair  (ISO)
double-strand break repair via nonhomologous end joining  (IMP)
embryonic organ development  (IEA,ISO)
germ cell development  (ISO)
global genome nucleotide-excision repair  (TAS)
interstrand cross-link repair  (ISO,TAS)
isotype switching  (IEA,ISO)
male gonad development  (IEA,ISO)
meiotic mismatch repair  (IBA)
mitotic recombination  (IBA,IMP)
multicellular organism aging  (IEA,ISO)
multicellular organism growth  (IEA,ISO)
negative regulation of protection from non-homologous end joining at telomere  (IMP)
negative regulation of telomere maintenance  (IMP)
nucleic acid phosphodiester bond hydrolysis  (IEA)
nucleotide-excision repair  (IDA,IGI,ISO)
nucleotide-excision repair, DNA incision  (TAS)
nucleotide-excision repair, DNA incision, 3'-to lesion  (IMP,TAS)
nucleotide-excision repair, DNA incision, 5'-to lesion  (IBA,IMP,TAS)
nucleotide-excision repair, preincision complex stabilization  (TAS)
oogenesis  (IEA,ISO)
positive regulation of t-circle formation  (ISO,ISS)
positive regulation of transcription initiation from RNA polymerase II promoter  (IEA,ISO)
post-embryonic hemopoiesis  (IEA,ISO)
pyrimidine dimer repair by nucleotide-excision repair  (IEA,ISO)
replicative senescence  (IEA,ISO)
response to cadmium ion  (IEA,ISO)
response to immobilization stress  (IEA,ISO)
response to nutrient  (IEA,ISO)
response to oxidative stress  (IMP)
response to sucrose  (IEA,ISO)
response to X-ray  (IEA,ISO)
spermatogenesis  (IEA,ISO)
syncytium formation  (IEA,ISO)
t-circle formation  (ISO,ISS)
telomeric DNA-containing double minutes formation  (IMP)
transcription-coupled nucleotide-excision repair  (TAS)
UV protection  (IEA,ISO)
UV-damage excision repair  (IBA)

Cellular Component

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

Human Phenotype
Abnormal neutrophil count  (IAGP)
Abnormal renal physiology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of immune system physiology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Adducted thumb  (IAGP)
Anodontia  (IAGP)
Anophthalmia  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral microphthalmos  (IAGP)
Blepharophimosis  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral calcification  (IAGP)
Cerebral cortical atrophy  (IAGP)
Congenital onset  (IAGP)
Conjunctivitis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Death in infancy  (IAGP)
Deeply set eye  (IAGP)
Delayed eruption of primary teeth  (IAGP)
Developmental cataract  (IAGP)
Difficulty walking  (IAGP)
Dislocated radial head  (IAGP)
EEG abnormality  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flared metaphysis  (IAGP)
Flexion contracture  (IAGP)
Flexion contracture of toe  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hip dislocation  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of dental enamel  (IAGP)
Hypoplasia of the primary teeth  (IAGP)
Hypotonia  (IAGP)
Increased circulating interleukin 6  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint stiffness  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Limb hypertonia  (IAGP)
Long face  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lower limb spasticity  (IAGP)
Macrotia  (IAGP)
Male hypogonadism  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Neurodevelopmental delay  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Patchy demyelination of subcortical white matter  (IAGP)
Peripheral neuropathy  (IAGP)
Photophobia  (IAGP)
Polymicrogyria  (IAGP)
Postural instability  (IAGP)
Premature closure of fontanelles  (IAGP)
Progeroid facial appearance  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent nasal bridge  (IAGP)
Reduced tendon reflexes  (IAGP)
Rocker bottom foot  (IAGP)
Scarring  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short chin  (IAGP)
Short neck  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Simplified gyral pattern  (IAGP)
Slender long bone  (IAGP)
Strabismus  (IAGP)
Subcortical white matter calcifications  (IAGP)
Talipes  (IAGP)
Uveitis  (IAGP)
Variable expressivity  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
Widely spaced primary teeth  (IAGP)
References

References - curated
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Additional References at PubMed
PMID:1372133   PMID:2420469   PMID:2471070   PMID:2821019   PMID:3034490   PMID:3290851   PMID:6462228   PMID:7559382   PMID:7598728   PMID:7657672   PMID:8197174   PMID:8197175  
PMID:8275084   PMID:8432525   PMID:8811092   PMID:9013642   PMID:9256505   PMID:9360634   PMID:9653453   PMID:9722633   PMID:9827920   PMID:10214908   PMID:10320375   PMID:10413517  
PMID:10498399   PMID:10583946   PMID:10675489   PMID:11058119   PMID:11062157   PMID:11160918   PMID:11259578   PMID:11313499   PMID:11707424   PMID:11753647   PMID:11936875   PMID:12164325  
PMID:12189194   PMID:12220217   PMID:12477932   PMID:12643788   PMID:12645871   PMID:12800797   PMID:12865926   PMID:12869411   PMID:14690602   PMID:14702039   PMID:14706347   PMID:14734547  
PMID:15095299   PMID:15146197   PMID:15173087   PMID:15213713   PMID:15277258   PMID:15297394   PMID:15489334   PMID:15688021   PMID:15709194   PMID:15734977   PMID:15746040   PMID:15746057  
PMID:15788669   PMID:15849729   PMID:15885892   PMID:15922480   PMID:15932882   PMID:15936590   PMID:16034668   PMID:16076955   PMID:16189514   PMID:16195237   PMID:16212814   PMID:16224397  
PMID:16284373   PMID:16284380   PMID:16308313   PMID:16315315   PMID:16338413   PMID:16341674   PMID:16341770   PMID:16351803   PMID:16364765   PMID:16393248   PMID:16407418   PMID:16491090  
PMID:16510122   PMID:16537713   PMID:16609022   PMID:16622263   PMID:16690207   PMID:16751776   PMID:16756962   PMID:16817948   PMID:16819291   PMID:16875718   PMID:16889989   PMID:16896002  
PMID:16899630   PMID:16916636   PMID:16979838   PMID:16985021   PMID:17055345   PMID:17064812   PMID:17078101   PMID:17131345   PMID:17151930   PMID:17210993   PMID:17222938   PMID:17229776  
PMID:17273966   PMID:17289582   PMID:17299578   PMID:17303907   PMID:17313739   PMID:17314486   PMID:17401013   PMID:17438655   PMID:17502833   PMID:17522621   PMID:17534174   PMID:17549067  
PMID:17606717   PMID:17614221   PMID:17617021   PMID:17685459   PMID:17720715   PMID:17912758   PMID:17925548   PMID:17932351   PMID:17948053   PMID:17961161   PMID:17987380   PMID:18006494  
PMID:18024864   PMID:18026184   PMID:18029348   PMID:18036700   PMID:18081788   PMID:18204222   PMID:18270339   PMID:18289367   PMID:18332046   PMID:18347182   PMID:18358500   PMID:18386788  
PMID:18395930   PMID:18396111   PMID:18425336   PMID:18430179   PMID:18451256   PMID:18483312   PMID:18494946   PMID:18505590   PMID:18509181   PMID:18520795   PMID:18564169   PMID:18594541  
PMID:18597777   PMID:18615480   PMID:18623378   PMID:18635523   PMID:18672388   PMID:18676680   PMID:18683754   PMID:18756932   PMID:18797464   PMID:18812185   PMID:18823676   PMID:18830263  
PMID:18854154   PMID:18854777   PMID:18977553   PMID:18990028   PMID:18990748   PMID:19009659   PMID:19020759   PMID:19029193   PMID:19035454   PMID:19056823   PMID:19064572   PMID:19068092  
PMID:19074750   PMID:19116388   PMID:19124499   PMID:19150580   PMID:19170196   PMID:19173905   PMID:19194123   PMID:19203783   PMID:19235214   PMID:19237606   PMID:19240185   PMID:19247656  
PMID:19253035   PMID:19257887   PMID:19258314   PMID:19270000   PMID:19289372   PMID:19297315   PMID:19318434   PMID:19332728   PMID:19339270   PMID:19361884   PMID:19362955   PMID:19421825  
PMID:19434073   PMID:19470925   PMID:19488864   PMID:19513514   PMID:19536092   PMID:19538866   PMID:19543324   PMID:19549713   PMID:19552012   PMID:19573080   PMID:19574766   PMID:19580345  
PMID:19595721   PMID:19596235   PMID:19596236   PMID:19620936   PMID:19625176   PMID:19626585   PMID:19636001   PMID:19661089   PMID:19661343   PMID:19664717   PMID:19667277   PMID:19672255  
PMID:19687761   PMID:19692168   PMID:19773279   PMID:19789190   PMID:19805513   PMID:19822419   PMID:19832035   PMID:19850635   PMID:19875192   PMID:19878615   PMID:19922504   PMID:19940136  
PMID:19956886   PMID:19960344   PMID:20003391   PMID:20003463   PMID:20009541   PMID:20021611   PMID:20047592   PMID:20061190   PMID:20070981   PMID:20085902   PMID:20104194   PMID:20143185  
PMID:20189873   PMID:20211060   PMID:20216541   PMID:20221251   PMID:20232390   PMID:20301571   PMID:20331623   PMID:20332140   PMID:20351547   PMID:20354815   PMID:20368715   PMID:20378615  
PMID:20385995   PMID:20391138   PMID:20395129   PMID:20429839   PMID:20453000   PMID:20462983   PMID:20467437   PMID:20467918   PMID:20470393   PMID:20495366   PMID:20496165   PMID:20504223  
PMID:20504250   PMID:20508946   PMID:20518486   PMID:20522537   PMID:20530282   PMID:20627363   PMID:20644561   PMID:20651406   PMID:20673515   PMID:20673527   PMID:20677561   PMID:20689757  
PMID:20728204   PMID:20731661   PMID:20734048   PMID:20736746   PMID:20813000   PMID:20817763   PMID:20823140   PMID:20846399   PMID:20855270   PMID:20863778   PMID:20864414   PMID:20868593  
PMID:20935060   PMID:20957144   PMID:20975603   PMID:20979931   PMID:21029626   PMID:21029695   PMID:21048041   PMID:21057378   PMID:21075476   PMID:21076943   PMID:21091775   PMID:21093896  
PMID:21117025   PMID:21165580   PMID:21177407   PMID:21206986   PMID:21240275   PMID:21244100   PMID:21262916   PMID:21278243   PMID:21286668   PMID:21289518   PMID:21323960   PMID:21355309  
PMID:21360249   PMID:21394302   PMID:21418871   PMID:21426588   PMID:21450455   PMID:21466675   PMID:21496891   PMID:21529986   PMID:21553053   PMID:21553054   PMID:21597406   PMID:21601580  
PMID:21720251   PMID:21726821   PMID:21750204   PMID:21766907   PMID:21788964   PMID:21827803   PMID:21839691   PMID:21873635   PMID:21875468   PMID:21875596   PMID:21896658   PMID:21899657  
PMID:21902499   PMID:21933627   PMID:21940361   PMID:21956434   PMID:21971700   PMID:22002622   PMID:22022380   PMID:22034895   PMID:22053010   PMID:22093627   PMID:22102173   PMID:22110208  
PMID:22159227   PMID:22176134   PMID:22177891   PMID:22199271   PMID:22201261   PMID:22203729   PMID:22261301   PMID:22266871   PMID:22302397   PMID:22329723   PMID:22331726   PMID:22344449  
PMID:22351191   PMID:22353549   PMID:22374244   PMID:22439756   PMID:22457069   PMID:22547097   PMID:22555222   PMID:22569992   PMID:22571922   PMID:22609620   PMID:22740205   PMID:22863869  
PMID:22890830   PMID:22897321   PMID:22902628   PMID:22932088   PMID:22938460   PMID:22939629   PMID:22994779   PMID:23011763   PMID:23033263   PMID:23086647   PMID:23093618   PMID:23147544  
PMID:23147699   PMID:23148636   PMID:23155271   PMID:23166636   PMID:23171216   PMID:23203453   PMID:23244079   PMID:23259415   PMID:23272099   PMID:23275151   PMID:23401439   PMID:23435956  
PMID:23481186   PMID:23496813   PMID:23514287   PMID:23523421   PMID:23549037   PMID:23580445   PMID:23581229   PMID:23593158   PMID:23623386   PMID:23623389   PMID:23632208   PMID:23674849  
PMID:23684781   PMID:23702380   PMID:23712330   PMID:23719746   PMID:23727606   PMID:23746523   PMID:23759026   PMID:23773262   PMID:23807173   PMID:23810210   PMID:23817665   PMID:23846458  
PMID:23884439   PMID:23909490   PMID:23912706   PMID:23940741   PMID:23948418   PMID:23982437   PMID:23982883   PMID:23993732   PMID:23996617   PMID:24023723   PMID:24036546   PMID:24045016  
PMID:24088734   PMID:24125975   PMID:24135250   PMID:24140460   PMID:24144331   PMID:24158589   PMID:24175850   PMID:24220697   PMID:24254311   PMID:24326865   PMID:24338713   PMID:24340057  
PMID:24370899   PMID:24403450   PMID:24403493   PMID:24403494   PMID:24412650   PMID:24443257   PMID:24453030   PMID:24460276   PMID:24499239   PMID:24528857   PMID:24532427   PMID:24563277  
PMID:24585004   PMID:24662920   PMID:24699918   PMID:24737474   PMID:24761869   PMID:24762590   PMID:24763305   PMID:24780295   PMID:24782032   PMID:24795708   PMID:24817012   PMID:24833529  
PMID:24841208   PMID:24854656   PMID:24859833   PMID:24861646   PMID:24870596   PMID:24935356   PMID:24935625   PMID:24958519   PMID:24994039   PMID:25025378   PMID:25028118   PMID:25042384  
PMID:25051148   PMID:25076246   PMID:25107571   PMID:25124575   PMID:25155628   PMID:25191856   PMID:25192052   PMID:25217323   PMID:25227663   PMID:25246386   PMID:25250341   PMID:25253066  
PMID:25339033   PMID:25366763   PMID:25366790   PMID:25375151   PMID:25416956   PMID:25434755   PMID:25501233   PMID:25533188   PMID:25538220   PMID:25542228   PMID:25560468   PMID:25596702  
PMID:25600168   PMID:25647444   PMID:25674197   PMID:25684513   PMID:25690281   PMID:25730007   PMID:25754170   PMID:25818288   PMID:25840756   PMID:25906447   PMID:25910212   PMID:25941922  
PMID:25946469   PMID:25956741   PMID:25961110   PMID:25965418   PMID:25973722   PMID:26001533   PMID:26022132   PMID:26025908   PMID:26045829   PMID:26056042   PMID:26066774   PMID:26074087  
PMID:26083491   PMID:26085086   PMID:26125779   PMID:26125934   PMID:26162296   PMID:26165688   PMID:26186194   PMID:26191265   PMID:26200905   PMID:26253951   PMID:26264164   PMID:26314858  
PMID:26336131   PMID:26339355   PMID:26344197   PMID:26345951   PMID:26372896   PMID:26400354   PMID:26415382   PMID:26453996   PMID:26542178   PMID:26612755   PMID:26617899   PMID:26658888  
PMID:26662383   PMID:26676887   PMID:26722542   PMID:26763622   PMID:26782397   PMID:26805762   PMID:26823845   PMID:26905109   PMID:26918371   PMID:26939044   PMID:26985954   PMID:27039774  
PMID:27051038   PMID:27057082   PMID:27100737   PMID:27147577   PMID:27165214   PMID:27289442   PMID:27323074   PMID:27434787   PMID:27566080   PMID:27668351   PMID:27741011   PMID:27768589  
PMID:27858866   PMID:28028171   PMID:28066957   PMID:28088319   PMID:28124401   PMID:28130555   PMID:28181565   PMID:28260069   PMID:28292785   PMID:28298427   PMID:28351583   PMID:28373211  
PMID:28388903   PMID:28404895   PMID:28476796   PMID:28514298   PMID:28514442   PMID:28607004   PMID:28623887   PMID:28645807   PMID:28708208   PMID:28743890   PMID:28747165   PMID:28796378  
PMID:28903417   PMID:28976792   PMID:29065415   PMID:29080834   PMID:29153096   PMID:29153678   PMID:29199611   PMID:29200955   PMID:29315835   PMID:29390553   PMID:29439312   PMID:29544698  
PMID:29572009   PMID:29620255   PMID:29631685   PMID:29656893   PMID:29669843   PMID:29752341   PMID:29768183   PMID:29793947   PMID:29797327   PMID:29905882   PMID:29980176   PMID:30011079  
PMID:30048976   PMID:30059501   PMID:30075571   PMID:30096175   PMID:30165384   PMID:30184615   PMID:30258100   PMID:30401956   PMID:30453383   PMID:30535472   PMID:30570863   PMID:30589644  
PMID:30610804   PMID:30628188   PMID:30893058   PMID:30946366   PMID:30973677   PMID:31081240   PMID:31083486   PMID:31144657   PMID:31169219   PMID:31177178   PMID:31221180   PMID:31361228  
PMID:31392348   PMID:31436301   PMID:31493872   PMID:31495888   PMID:31515488   PMID:31521181   PMID:31713119   PMID:31815582   PMID:31903985   PMID:32034146   PMID:32143126   PMID:32146800  
PMID:32271760   PMID:32296183   PMID:32397974   PMID:32399998   PMID:32487614  


Genomics

Comparative Map Data
ERCC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1945,407,334 - 45,478,828 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1945,407,333 - 45,478,828 (-)EnsemblGRCh38hg38GRCh38
GRCh381945,407,334 - 45,451,547 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371945,910,591 - 45,982,241 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh371945,910,592 - 45,954,805 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,604,712 - 50,619,017 (-)NCBINCBI36hg18NCBI36
Build 341950,608,532 - 50,618,642NCBI
Celera1942,716,697 - 42,733,283 (-)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1942,340,919 - 42,357,653 (-)NCBIHuRef
CHM1_11945,913,883 - 45,930,469 (-)NCBICHM1_1
Ercc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39719,075,769 - 19,090,449 (+)NCBIGRCm39mm39
GRCm38719,344,067 - 19,356,524 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl719,344,778 - 19,356,524 (+)EnsemblGRCm38mm10GRCm38
MGSCv37719,930,420 - 19,941,873 (+)NCBIGRCm37mm9NCBIm37
MGSCv36718,503,628 - 18,515,044 (+)NCBImm8
Celera716,751,825 - 16,763,278 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map79.6NCBI
Ercc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2178,971,310 - 79,007,963 (+)NCBI
Rnor_6.0 Ensembl180,256,973 - 80,268,198 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0180,256,973 - 80,268,198 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0181,523,234 - 81,534,459 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4178,711,249 - 78,722,474 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1178,787,675 - 78,800,533 (+)NCBI
Celera173,458,746 - 73,469,951 (+)NCBICelera
Cytogenetic Map1q21NCBI
Ercc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555552,393,278 - 2,406,582 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555552,393,510 - 2,430,180 (-)NCBIChiLan1.0ChiLan1.0
ERCC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11950,951,674 - 50,994,600 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1950,951,674 - 50,968,430 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01942,356,039 - 42,427,754 (-)NCBIMhudiblu_PPA_v0panPan3
ERCC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1110,130,481 - 110,146,602 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11110,130,353 - 110,146,660 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Ercc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049367061,854,938 - 1,867,521 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERCC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1651,783,537 - 51,808,898 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ERCC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1638,857,067 - 38,900,177 (-)NCBI
ChlSab1.1 Ensembl638,854,803 - 38,872,967 (-)Ensembl
Ercc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249072,288,380 - 2,298,909 (-)NCBI

Position Markers
RH47033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,916,859 - 45,916,985UniSTSGRCh37
Build 361950,608,699 - 50,608,825RGDNCBI36
Celera1942,722,965 - 42,723,091RGD
Cytogenetic Map19q13.32UniSTS
HuRef1942,347,335 - 42,347,461UniSTS
GeneMap99-GB4 RH Map19250.62UniSTS
UniSTS:148575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,921,534 - 45,921,667UniSTSGRCh37
Build 361950,613,374 - 50,613,507RGDNCBI36
Celera1942,727,640 - 42,727,773RGD
HuRef1942,352,010 - 42,352,143UniSTS
GDB:181915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,913,798 - 45,913,884UniSTSGRCh37
Build 361950,605,638 - 50,605,724RGDNCBI36
Celera1942,719,904 - 42,719,990RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19q13.32UniSTS
HuRef1942,344,131 - 42,344,225UniSTS
GDB:190019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,924,550 - 45,924,716UniSTSGRCh37
Build 361950,616,390 - 50,616,556RGDNCBI36
Celera1942,730,656 - 42,730,822RGD
Cytogenetic Map19q13.32UniSTS
HuRef1942,355,026 - 42,355,192UniSTS
ERCC1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,922,357 - 45,922,457UniSTSGRCh37
Build 361950,614,197 - 50,614,297RGDNCBI36
Celera1942,728,463 - 42,728,563RGD
HuRef1942,352,833 - 42,352,933UniSTS
STS-R48186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,910,644 - 45,910,786UniSTSGRCh37
Build 361950,602,484 - 50,602,626RGDNCBI36
Celera1942,716,750 - 42,716,892RGD
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19q13.32UniSTS
HuRef1942,340,972 - 42,341,114UniSTS
GeneMap99-GB4 RH Map19255.09UniSTS
NCBI RH Map19502.1UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6970
Count of miRNA genes:1154
Interacting mature miRNAs:1469
Transcripts:ENST00000013807, ENST00000300853, ENST00000340192, ENST00000423698, ENST00000587888, ENST00000588300, ENST00000588738, ENST00000589165, ENST00000589214, ENST00000589381, ENST00000590701, ENST00000591636, ENST00000592023, ENST00000592083, ENST00000592410, ENST00000592444, ENST00000592905
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2404 2578 1472 374 1603 216 4353 2122 3365 380 1443 1603 171 1204 2786 2
Low 29 410 252 248 347 248 2 72 349 39 6 5 2 2
Below cutoff 1 1 1 1 9 4 1 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_202001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA761510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB069681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF433652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF512555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM011724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM450988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM453702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM789972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ019990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ227841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ671113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU627436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN314897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB468563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ586988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S94539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000013807   ⟹   ENSP00000013807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,413,434 - 45,423,566 (-)Ensembl
RefSeq Acc Id: ENST00000300853   ⟹   ENSP00000300853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,407,334 - 45,423,917 (-)Ensembl
RefSeq Acc Id: ENST00000340192   ⟹   ENSP00000345203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,409,614 - 45,423,839 (-)Ensembl
RefSeq Acc Id: ENST00000423698   ⟹   ENSP00000394875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,407,334 - 45,478,828 (-)Ensembl
RefSeq Acc Id: ENST00000587888   ⟹   ENSP00000465225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,413,677 - 45,420,382 (-)Ensembl
RefSeq Acc Id: ENST00000588300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,416,491 - 45,423,938 (-)Ensembl
RefSeq Acc Id: ENST00000588738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,409,546 - 45,414,616 (-)Ensembl
RefSeq Acc Id: ENST00000589165   ⟹   ENSP00000468035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,409,668 - 45,424,367 (-)Ensembl
RefSeq Acc Id: ENST00000589214   ⟹   ENSP00000465524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,420,324 - 45,429,210 (-)Ensembl
RefSeq Acc Id: ENST00000589381   ⟹   ENSP00000468548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,413,677 - 45,423,485 (-)Ensembl
RefSeq Acc Id: ENST00000590701   ⟹   ENSP00000466644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,409,616 - 45,419,186 (-)Ensembl
RefSeq Acc Id: ENST00000591636   ⟹   ENSP00000468119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,409,619 - 45,423,501 (-)Ensembl
RefSeq Acc Id: ENST00000592023   ⟹   ENSP00000468158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,414,861 - 45,423,605 (-)Ensembl
RefSeq Acc Id: ENST00000592083   ⟹   ENSP00000467183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,413,963 - 45,450,725 (-)Ensembl
RefSeq Acc Id: ENST00000592410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,413,436 - 45,414,477 (-)Ensembl
RefSeq Acc Id: ENST00000592444   ⟹   ENSP00000465354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,413,436 - 45,416,859 (-)Ensembl
RefSeq Acc Id: ENST00000592905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1945,414,738 - 45,423,872 (-)Ensembl
RefSeq Acc Id: NM_001166049   ⟹   NP_001159521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,423,917 (-)NCBI
GRCh371945,910,591 - 45,982,241 (-)NCBI
HuRef1942,340,919 - 42,357,653 (-)ENTREZGENE
CHM1_11945,913,883 - 45,930,469 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369408   ⟹   NP_001356337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,412,711 - 45,423,917 (-)NCBI
RefSeq Acc Id: NM_001369409   ⟹   NP_001356338
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,412,711 - 45,423,917 (-)NCBI
RefSeq Acc Id: NM_001369410   ⟹   NP_001356339
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,412,711 - 45,423,917 (-)NCBI
RefSeq Acc Id: NM_001369411   ⟹   NP_001356340
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,412,711 - 45,423,528 (-)NCBI
RefSeq Acc Id: NM_001369412   ⟹   NP_001356341
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,451,547 (-)NCBI
RefSeq Acc Id: NM_001369413   ⟹   NP_001356342
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,451,547 (-)NCBI
RefSeq Acc Id: NM_001369414   ⟹   NP_001356343
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,450,766 (-)NCBI
RefSeq Acc Id: NM_001369415   ⟹   NP_001356344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,423,917 (-)NCBI
RefSeq Acc Id: NM_001369416   ⟹   NP_001356345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,423,528 (-)NCBI
RefSeq Acc Id: NM_001369417   ⟹   NP_001356346
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,450,766 (-)NCBI
RefSeq Acc Id: NM_001369418   ⟹   NP_001356347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,423,917 (-)NCBI
RefSeq Acc Id: NM_001369419   ⟹   NP_001356348
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,423,528 (-)NCBI
RefSeq Acc Id: NM_001983   ⟹   NP_001974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,407,334 - 45,423,917 (-)NCBI
GRCh371945,910,591 - 45,982,241 (-)NCBI
Build 361950,604,712 - 50,619,017 (-)NCBI Archive
HuRef1942,340,919 - 42,357,653 (-)ENTREZGENE
CHM1_11945,913,883 - 45,930,469 (-)NCBI
Sequence:
RefSeq Acc Id: NM_202001   ⟹   NP_973730
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,412,711 - 45,423,528 (-)NCBI
GRCh371945,910,591 - 45,982,241 (-)NCBI
Build 361950,608,532 - 50,618,642 (-)NCBI Archive
HuRef1942,340,919 - 42,357,653 (-)ENTREZGENE
CHM1_11945,919,984 - 45,930,112 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001159521 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356337 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356338 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356339 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356340 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356341 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356342 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356343 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356344 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356345 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356346 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356347 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356348 (Get FASTA)   NCBI Sequence Viewer  
  NP_001974 (Get FASTA)   NCBI Sequence Viewer  
  NP_973730 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35810 (Get FASTA)   NCBI Sequence Viewer  
  AAA52394 (Get FASTA)   NCBI Sequence Viewer  
  AAA52395 (Get FASTA)   NCBI Sequence Viewer  
  AAC16253 (Get FASTA)   NCBI Sequence Viewer  
  AAD14434 (Get FASTA)   NCBI Sequence Viewer  
  AAH08930 (Get FASTA)   NCBI Sequence Viewer  
  AAH52813 (Get FASTA)   NCBI Sequence Viewer  
  AAL56574 (Get FASTA)   NCBI Sequence Viewer  
  AAM34796 (Get FASTA)   NCBI Sequence Viewer  
  AAV38609 (Get FASTA)   NCBI Sequence Viewer  
  BAB62810 (Get FASTA)   NCBI Sequence Viewer  
  BAG37398 (Get FASTA)   NCBI Sequence Viewer  
  BAG52472 (Get FASTA)   NCBI Sequence Viewer  
  EAW57348 (Get FASTA)   NCBI Sequence Viewer  
  EAW57349 (Get FASTA)   NCBI Sequence Viewer  
  EAW57350 (Get FASTA)   NCBI Sequence Viewer  
  P07992 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001159521   ⟸   NM_001166049
- Peptide Label: isoform 3
- UniProtKB: P07992 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001974   ⟸   NM_001983
- Peptide Label: isoform 2
- UniProtKB: P07992 (UniProtKB/Swiss-Prot),   A0A024R0Q6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_973730   ⟸   NM_202001
- Peptide Label: isoform 1
- UniProtKB: P07992 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001356341   ⟸   NM_001369412
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356342   ⟸   NM_001369413
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356346   ⟸   NM_001369417
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001356343   ⟸   NM_001369414
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356347   ⟸   NM_001369418
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001356344   ⟸   NM_001369415
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356348   ⟸   NM_001369419
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001356345   ⟸   NM_001369416
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356337   ⟸   NM_001369408
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001356339   ⟸   NM_001369410
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001356338   ⟸   NM_001369409
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001356340   ⟸   NM_001369411
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000394875   ⟸   ENST00000423698
RefSeq Acc Id: ENSP00000465225   ⟸   ENST00000587888
RefSeq Acc Id: ENSP00000468548   ⟸   ENST00000589381
RefSeq Acc Id: ENSP00000465524   ⟸   ENST00000589214
RefSeq Acc Id: ENSP00000468035   ⟸   ENST00000589165
RefSeq Acc Id: ENSP00000300853   ⟸   ENST00000300853
RefSeq Acc Id: ENSP00000345203   ⟸   ENST00000340192
RefSeq Acc Id: ENSP00000466644   ⟸   ENST00000590701
RefSeq Acc Id: ENSP00000468119   ⟸   ENST00000591636
RefSeq Acc Id: ENSP00000013807   ⟸   ENST00000013807
RefSeq Acc Id: ENSP00000467183   ⟸   ENST00000592083
RefSeq Acc Id: ENSP00000468158   ⟸   ENST00000592023
RefSeq Acc Id: ENSP00000465354   ⟸   ENST00000592444

Promoters
RGD ID:7240411
Promoter ID:EPDNEW_H25951
Type:initiation region
Name:ERCC1_1
Description:ERCC excision repair 1, endonuclease non-catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25952  EPDNEW_H25953  EPDNEW_H25956  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,423,526 - 45,423,586EPDNEW
RGD ID:7240413
Promoter ID:EPDNEW_H25952
Type:initiation region
Name:ERCC1_2
Description:ERCC excision repair 1, endonuclease non-catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25951  EPDNEW_H25953  EPDNEW_H25956  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,423,908 - 45,423,968EPDNEW
RGD ID:7240415
Promoter ID:EPDNEW_H25953
Type:initiation region
Name:ERCC1_3
Description:ERCC excision repair 1, endonuclease non-catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25951  EPDNEW_H25952  EPDNEW_H25956  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,424,381 - 45,424,441EPDNEW
RGD ID:6853170
Promoter ID:EP74406
Type:initiation region
Name:HS_ERCC1
Description:Excision repair cross-complementing rodent repair deficiency, 1mplementation group 1 (includes overlapping antisense sequence).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,618,601 - 50,618,661EPD
RGD ID:6795386
Promoter ID:HG_KWN:30276
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:ENST00000340192,   ENST00000391935,   NM_001166049,   NM_001983,   UC002PBV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,618,621 - 50,619,557 (-)MPROMDB
RGD ID:6811565
Promoter ID:HG_ACW:41900
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ERCC1.OAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,623,626 - 50,624,126 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) single nucleotide variant Cerebrooculofacioskeletal syndrome 4 [RCV000018265] Chr19:45419151 [GRCh38]
Chr19:45922409 [GRCh37]
Chr19:19q13.32
pathogenic
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) single nucleotide variant Cerebrooculofacioskeletal syndrome 4 [RCV000018266]|Cockayne syndrome [RCV000252117] Chr19:45414870 [GRCh38]
Chr19:45918128 [GRCh37]
Chr19:19q13.32
pathogenic
GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3 copy number gain See cases [RCV000054152] Chr19:45287256..45734078 [GRCh38]
Chr19:45790514..46237336 [GRCh37]
Chr19:50482354..50929176 [NCBI36]
Chr19:19q13.32
uncertain significance
NM_001983.4(ERCC1):c.843+357C>T single nucleotide variant not provided [RCV000114926] Chr19:45413320 [GRCh38]
Chr19:45916578 [GRCh37]
Chr19:50608418 [NCBI36]
Chr19:19q13.32
not provided
NM_001983.4(ERCC1):c.774+64C>T single nucleotide variant not provided [RCV000114927] Chr19:45413899 [GRCh38]
Chr19:45917157 [GRCh37]
Chr19:50608997 [NCBI36]
Chr19:19q13.32
not provided
NM_001983.4(ERCC1):c.426-11G>A single nucleotide variant not provided [RCV000114928] Chr19:45419208 [GRCh38]
Chr19:45922466 [GRCh37]
Chr19:50614306 [NCBI36]
Chr19:19q13.32
not provided
NM_001983.4(ERCC1):c.322-123G>A single nucleotide variant not provided [RCV000114929] Chr19:45420550 [GRCh38]
Chr19:45923808 [GRCh37]
Chr19:50615648 [NCBI36]
Chr19:19q13.32
not provided
NM_001983.4(ERCC1):c.106-73A>G single nucleotide variant not provided [RCV000114930] Chr19:45421466 [GRCh38]
Chr19:45924724 [GRCh37]
Chr19:50616564 [NCBI36]
Chr19:19q13.32
not provided
NM_001983.4(ERCC1):c.106-83G>A single nucleotide variant not provided [RCV000114931] Chr19:45421476 [GRCh38]
Chr19:45924734 [GRCh37]
Chr19:50616574 [NCBI36]
Chr19:19q13.32
not provided
NM_001983.4(ERCC1):c.*197G>T single nucleotide variant Platinum compounds response - Toxicity/ADR [RCV000211219]|cisplatin response - Toxicity/ADR [RCV000211315]|platinum response - Toxicity/ADR [RCV000211398] Chr19:45409478 [GRCh38]
Chr19:45912736 [GRCh37]
Chr19:19q13.32
drug response
NM_001983.4(ERCC1):c.354T>C (p.Asn118=) single nucleotide variant Platinum compounds response - Efficacy, Toxicity/ADR [RCV000211295]|carboplatin response - Efficacy, Toxicity/ADR [RCV000211179]|cisplatin response - Efficacy, Toxicity/ADR [RCV000211304]|oxaliplatin response - Efficacy, Toxicity/ADR [RCV000211427]|platinum response - Efficacy, Toxicity/ADR [RCV000211176] Chr19:45420395 [GRCh38]
Chr19:45923653 [GRCh37]
Chr19:19q13.32
benign|drug response
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 copy number loss See cases [RCV000137832] Chr19:45387389..46831000 [GRCh38]
Chr19:45890647..47334257 [GRCh37]
Chr19:50582487..52026097 [NCBI36]
Chr19:19q13.32
likely pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32
pathogenic
GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3 copy number gain See cases [RCV000239782] Chr19:45284576..45978239 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_001983.4(ERCC1):c.*863T>C single nucleotide variant Cerebrooculofacioskeletal syndrome 4 [RCV000991189]|not provided [RCV000224631] Chr19:45408812 [GRCh38]
Chr19:45912070 [GRCh37]
Chr19:19q13.32
pathogenic|benign|conflicting interpretations of pathogenicity
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) single nucleotide variant Cockayne syndrome [RCV000247362] Chr19:45414887 [GRCh38]
Chr19:45918145 [GRCh37]
Chr19:19q13.32
pathogenic
NM_001983.4(ERCC1):c.-7-136A>G single nucleotide variant Xeroderma pigmentosum [RCV000302095] Chr19:45423517 [GRCh38]
Chr19:45926775 [GRCh37]
Chr19:19q13.32
benign
NM_001983.4(ERCC1):c.843+105C>G single nucleotide variant Xeroderma pigmentosum [RCV000330246] Chr19:45413572 [GRCh38]
Chr19:45916830 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_001983.4(ERCC1):c.-7-71dup duplication Xeroderma pigmentosum [RCV000407440] Chr19:45423446..45423447 [GRCh38]
Chr19:45926704..45926705 [GRCh37]
Chr19:19q13.32
benign
NM_001983.4(ERCC1):c.525+9G>A single nucleotide variant Xeroderma pigmentosum [RCV000294909] Chr19:45419089 [GRCh38]
Chr19:45922347 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_001983.4(ERCC1):c.390T>C (p.Tyr130=) single nucleotide variant not provided [RCV000970357] Chr19:45420359 [GRCh38]
Chr19:45923617 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_001983.4(ERCC1):c.225G>A (p.Thr75=) single nucleotide variant Xeroderma pigmentosum [RCV000346403] Chr19:45421274 [GRCh38]
Chr19:45924532 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_001983.4(ERCC1):c.843+32G>A single nucleotide variant not provided [RCV000426055] Chr19:45413645 [GRCh38]
Chr19:45916903 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) single nucleotide variant Cerebrooculofacioskeletal syndrome 4 [RCV000490532] Chr19:45421315 [GRCh38]
Chr19:45924573 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_001983.4(ERCC1):c.326G>A (p.Gly109Asp) single nucleotide variant Xeroderma pigmentosum [RCV000291310] Chr19:45420423 [GRCh38]
Chr19:45923681 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_001983.4(ERCC1):c.525+2T>C single nucleotide variant not provided [RCV000578952] Chr19:45419096 [GRCh38]
Chr19:45922354 [GRCh37]
Chr19:19q13.32
pathogenic
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) single nucleotide variant Cerebrooculofacioskeletal syndrome 4 [RCV000723350]|not provided [RCV000885540] Chr19:45413724 [GRCh38]
Chr19:45916982 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001983.4(ERCC1):c.796G>C (p.Ala266Pro) single nucleotide variant not provided [RCV000513005] Chr19:45413724 [GRCh38]
Chr19:45916982 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_001983.4(ERCC1):c.155C>A (p.Ser52Ter) single nucleotide variant not provided [RCV000513293] Chr19:45421344 [GRCh38]
Chr19:45924602 [GRCh37]
Chr19:19q13.32
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001983.4(ERCC1):c.183C>T (p.Ala61=) single nucleotide variant not provided [RCV000896677] Chr19:45421316 [GRCh38]
Chr19:45924574 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.199C>T (p.Gln67Ter) single nucleotide variant not provided [RCV000996945] Chr19:45421300 [GRCh38]
Chr19:45924558 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val) single nucleotide variant not provided [RCV000879932] Chr19:45421308 [GRCh38]
Chr19:45924566 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.792C>T (p.Ile264=) single nucleotide variant not provided [RCV000885270] Chr19:45413728 [GRCh38]
Chr19:45916986 [GRCh37]
Chr19:19q13.32
benign
NM_001983.4(ERCC1):c.843+117C>T single nucleotide variant not provided [RCV000920454] Chr19:45413560 [GRCh38]
Chr19:45916818 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.594C>T (p.Leu198=) single nucleotide variant not provided [RCV000900383] Chr19:45416829 [GRCh38]
Chr19:45920087 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.422del (p.Leu141fs) deletion Xeroderma pigmentosum, group D [RCV000779261] Chr19:45420327 [GRCh38]
Chr19:45923585 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_001983.4(ERCC1):c.122_123dup (p.Ser42fs) duplication Xeroderma pigmentosum, group D [RCV000779262] Chr19:45421375..45421376 [GRCh38]
Chr19:45924633..45924634 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_001983.4(ERCC1):c.603-6T>C single nucleotide variant not provided [RCV000902631] Chr19:45414966 [GRCh38]
Chr19:45918224 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.597C>T (p.Ala199=) single nucleotide variant not provided [RCV000921647] Chr19:45416826 [GRCh38]
Chr19:45920084 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.426-7C>T single nucleotide variant not provided [RCV000923275] Chr19:45419204 [GRCh38]
Chr19:45922462 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.375C>T (p.Asp125=) single nucleotide variant not provided [RCV000947974] Chr19:45420374 [GRCh38]
Chr19:45923632 [GRCh37]
Chr19:19q13.32
benign
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro) single nucleotide variant Cerebrooculofacioskeletal syndrome 4 [RCV000791204] Chr19:45413721 [GRCh38]
Chr19:45916979 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_001983.4(ERCC1):c.843+6A>G single nucleotide variant not provided [RCV000888864] Chr19:45413671 [GRCh38]
Chr19:45916929 [GRCh37]
Chr19:19q13.32
benign
NM_001983.4(ERCC1):c.106-3C>T single nucleotide variant not provided [RCV000879933] Chr19:45421396 [GRCh38]
Chr19:45924654 [GRCh37]
Chr19:19q13.32
benign
NM_001983.4(ERCC1):c.843+48C>A single nucleotide variant not provided [RCV000899538] Chr19:45413629 [GRCh38]
Chr19:45916887 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.384C>T (p.Pro128=) single nucleotide variant not provided [RCV000880451] Chr19:45420365 [GRCh38]
Chr19:45923623 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.426-6C>T single nucleotide variant not provided [RCV000913867] Chr19:45419203 [GRCh38]
Chr19:45922461 [GRCh37]
Chr19:19q13.32
likely benign
NM_001983.4(ERCC1):c.105+7_105+8del deletion not provided [RCV000890225] Chr19:45423262..45423263 [GRCh38]
Chr19:45926520..45926521 [GRCh37]
Chr19:19q13.32
likely benign
GRCh37/hg19 19q13.32(chr19:45765313-45968157)x3 copy number gain not provided [RCV001007052] Chr19:45765313..45968157 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33
uncertain significance
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) single nucleotide variant Failure to thrive [RCV001257143] Chr19:45419157 [GRCh38]
Chr19:45922415 [GRCh37]
Chr19:19q13.32
pathogenic
Single allele deletion Failure to thrive [RCV001260593] Chr19:45922224..45924375 [GRCh37]
Chr19:19q13.32
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3433 AgrOrtholog
COSMIC ERCC1 COSMIC
Ensembl Genes ENSG00000012061 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000013807 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000300853 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000345203 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394875 UniProtKB/Swiss-Prot
  ENSP00000465225 UniProtKB/TrEMBL
  ENSP00000465354 UniProtKB/TrEMBL
  ENSP00000465524 UniProtKB/TrEMBL
  ENSP00000466644 UniProtKB/TrEMBL
  ENSP00000467183 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000468035 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468119 UniProtKB/TrEMBL
  ENSP00000468158 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000468548 UniProtKB/TrEMBL
Ensembl Transcript ENST00000013807 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000300853 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000340192 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423698 UniProtKB/Swiss-Prot
  ENST00000587888 UniProtKB/TrEMBL
  ENST00000589165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000589214 UniProtKB/TrEMBL
  ENST00000589381 UniProtKB/TrEMBL
  ENST00000590701 UniProtKB/TrEMBL
  ENST00000591636 UniProtKB/TrEMBL
  ENST00000592023 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000592083 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000592444 UniProtKB/TrEMBL
GTEx ENSG00000012061 GTEx
HGNC ID HGNC:3433 ENTREZGENE
Human Proteome Map ERCC1 Human Proteome Map
InterPro ERCC1/RAD10/SWI10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Restrct_endonuc-II-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RuvA_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2067 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2067 ENTREZGENE
OMIM 126380 OMIM
  610758 OMIM
PANTHER PTHR12749 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rad10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ERCC1 RGD, PharmGKB
Superfamily-SCOP SSF47781 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs rad10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R0Q6 ENTREZGENE, UniProtKB/TrEMBL
  ERCC1_HUMAN UniProtKB/Swiss-Prot
  K7EJL2_HUMAN UniProtKB/TrEMBL
  K7EJW9_HUMAN UniProtKB/TrEMBL
  K7EK97_HUMAN UniProtKB/TrEMBL
  K7EMT9_HUMAN UniProtKB/TrEMBL
  K7EP14_HUMAN UniProtKB/TrEMBL
  K7ER60_HUMAN UniProtKB/TrEMBL
  K7ER89_HUMAN UniProtKB/TrEMBL
  K7ES46_HUMAN UniProtKB/TrEMBL
  P07992 ENTREZGENE
  Q16456_HUMAN UniProtKB/TrEMBL
  Q8WWH8_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RC01 UniProtKB/Swiss-Prot
  B3KRR0 UniProtKB/Swiss-Prot
  Q7Z7F5 UniProtKB/Swiss-Prot
  Q96S40 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 ERCC1  ERCC excision repair 1, endonuclease non-catalytic subunit    excision repair cross-complementation group 1  Symbol and/or name change 5135510 APPROVED
2014-03-12 ERCC1  excision repair cross-complementation group 1    excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)  Symbol and/or name change 5135510 APPROVED