XRCC1 (X-ray repair cross complementing 1) - Rat Genome Database

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Gene: XRCC1 (X-ray repair cross complementing 1) Homo sapiens
Analyze
Symbol: XRCC1
Name: X-ray repair cross complementing 1
RGD ID: 732968
HGNC Page HGNC
Description: Enables enzyme binding activity and oxidized DNA binding activity. Involved in several processes, including negative regulation of protein ADP-ribosylation; positive regulation of DNA metabolic process; and replication-born double-strand break repair via sister chromatid exchange. Located in chromatin; nucleolus; and nucleoplasm. Implicated in several diseases, including gastrointestinal system cancer (multiple); hematologic cancer (multiple); reproductive organ cancer (multiple); respiratory system cancer (multiple); and urinary system cancer (multiple). Biomarker of liver cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA repair protein XRCC1; RCC; SCAR26; X-ray repair complementing defective repair in Chinese hamster cells 1; x-ray repair cross-complementing group 1 protein; X-ray repair cross-complementing protein 1; X-ray-repair, complementing defective, repair in Chinese hamster
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
GRCh381943,543,311 - 43,575,527 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1943,543,311 - 43,580,473 (-)EnsemblGRCh38hg38GRCh38
GRCh371944,047,463 - 44,079,679 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361948,739,304 - 48,771,555 (-)NCBINCBI36hg18NCBI36
Build 341948,739,303 - 48,771,555NCBI
Celera1940,850,091 - 40,882,209 (-)NCBI
Cytogenetic Map19q13.31NCBI
HuRef1940,478,136 - 40,510,489 (-)NCBIHuRef
CHM1_11944,049,115 - 44,081,452 (-)NCBICHM1_1
T2T-CHM13v2.01946,364,840 - 46,397,157 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
5 Alpha Fluorouracil Toxicity  (IAGP)
acute lymphoblastic leukemia  (EXP,IAGP)
asphyxia neonatorum  (ISO)
autosomal recessive spinocerebellar ataxia 26  (IAGP)
B-Cell Chronic Lymphocytic Leukemia  (IAGP)
Birth Weight  (EXP)
Breast Neoplasms  (IAGP)
cataract  (ISO)
cervical cancer  (IAGP)
Chemical and Drug Induced Liver Injury  (ISO)
Chronic Hepatitis C  (IAGP)
chronic myeloid leukemia  (IAGP)
colorectal adenocarcinoma  (IAGP)
colorectal cancer  (IAGP)
colorectal carcinoma  (IAGP)
contact dermatitis  (IAGP)
Erythema  (EXP)
esophageal cancer  (IAGP)
esophagus squamous cell carcinoma  (EXP,IAGP)
gallbladder cancer  (IAGP)
gastric cardia adenocarcinoma  (IAGP)
gastric cardia carcinoma  (IAGP)
hepatitis A  (IAGP)
hepatitis B  (IAGP)
hepatocellular carcinoma  (IAGP,IEA)
high grade glioma  (EXP)
Human Viral Hepatitis  (IAGP)
impotence  (IAGP)
in situ carcinoma  (ISO)
invasive ductal carcinoma  (IAGP)
laryngeal carcinoma  (IAGP)
leiomyoma  (IAGP)
liver cancer  (IEP)
liver cirrhosis  (IAGP)
lung adenocarcinoma  (IAGP)
lung cancer  (IAGP)
lung non-small cell carcinoma  (IAGP)
male infertility  (EXP)
malignant mesothelioma  (IAGP)
Mesothelioma  (EXP)
Micronuclei, Chromosome-Defective  (EXP)
Mouth Neoplasms  (IAGP)
myelodysplastic syndrome  (IAGP)
nasopharynx carcinoma  (IAGP)
Neoplasm Metastasis  (IAGP)
Occupational Diseases  (EXP)
oral mucosa leukoplakia  (IAGP)
pancreatic cancer  (IAGP)
prostate cancer  (IAGP)
Prostatic Neoplasms  (EXP)
renal cell carcinoma  (IAGP)
Reperfusion Injury  (ISO)
Salivary Gland Neoplasms  (IEP)
schizophrenia  (IAGP)
seminoma  (IAGP)
senile cataract  (IAGP)
stomach cancer  (IAGP)
stomach carcinoma  (IAGP)
Stomach Neoplasms  (EXP)
stomatitis  (EXP)
transient cerebral ischemia  (ISO)
transitional cell carcinoma  (IAGP)
urinary bladder cancer  (IAGP)
visual epilepsy  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(-)-quinic acid  (EXP)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methylphenanthrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-hydroperoxycyclophosphamide  (ISO)
4-hydroxyphenyl retinamide  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-formyltetrahydrofolic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acrylamide  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
asbestos  (EXP)
ATP  (ISO)
belinostat  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP)
Benzo[ghi]perylene  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (EXP)
buta-1,3-diene  (EXP,ISO)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
chloroethene  (EXP,ISO)
chlorpyrifos  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyclophosphamide  (ISO)
cyproconazole  (ISO)
cytarabine  (EXP)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
doxorubicin  (EXP)
emodin  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fipronil  (ISO)
flavonoids  (EXP)
floxuridine  (EXP)
fluoranthene  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gefitinib  (EXP)
genistein  (ISO)
glutathione  (ISO)
hydrogen peroxide  (EXP)
idarubicin  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
lead chromate  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
levetiracetam  (ISO)
lipopolysaccharide  (EXP)
lupeol  (EXP)
LY294002  (EXP)
malonaldehyde  (ISO)
mancozeb  (EXP)
metformin  (EXP)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
mithramycin  (EXP)
Monobutylphthalate  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-ethyl-N-nitrosourea  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
NAD zwitterion  (ISO)
NAD(+)  (ISO)
nicotine  (EXP)
oxaliplatin  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
PhIP  (ISO)
piperonyl butoxide  (ISO)
platinum  (EXP)
platinum(0)  (EXP)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
sodium arsenite  (EXP,ISO)
styrene  (EXP)
styrene oxide  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
theaflavin  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
tunicamycin  (EXP)
ubiquinones  (ISO)
usnic acid  (EXP)
valproic acid  (EXP)
vorinostat  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal B cell morphology  (IAGP)
Abnormal leukocyte morphology  (IAGP)
Abnormal platelet count  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of the lymph nodes  (IAGP)
Age-related cataract  (IAGP)
Areflexia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bladder carcinoma  (IAGP)
Cerebellar atrophy  (IAGP)
Cirrhosis  (IAGP)
Decreased levels of alpha-fetoprotein  (IAGP)
Diarrhea  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Elevated alpha-fetoprotein  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated hepatic transaminase  (IAGP)
Esophageal carcinoma  (IAGP)
Esophageal neoplasm  (IAGP)
Gastric adenocarcinoma  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hypermetric saccades  (IAGP)
Hypoalbuminemia  (IAGP)
Increased hepatitis A virus antibody level  (IAGP)
Increased hepatitis C virus antibody level  (IAGP)
Leukopenia  (IAGP)
Limb ataxia  (IAGP)
Lymphopenia  (IAGP)
Neoplasia of the nasopharynx  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the stomach  (IAGP)
Neutropenia  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Positive Romberg sign  (IAGP)
Progressive  (IAGP)
Reduced C-reactive protein level  (IAGP)
Schizophrenia  (IAGP)
Sensorimotor neuropathy  (IAGP)
Stomach cancer  (IAGP)
Thrombocytopenia  (IAGP)
Unsteady gait  (IAGP)
Viral hepatitis  (IAGP)
References

References - curated
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PMID:26238022   PMID:26271249   PMID:26304019   PMID:26314858   PMID:26320504   PMID:26339595   PMID:26345915   PMID:26387952   PMID:26406958   PMID:26418909   PMID:26446325   PMID:26449312  
PMID:26458583   PMID:26474068   PMID:26496610   PMID:26549023   PMID:26562193   PMID:26585370   PMID:26590607   PMID:26603896   PMID:26634519   PMID:26681190   PMID:26692147   PMID:26723520  
PMID:26763622   PMID:26823821   PMID:26824244   PMID:26826460   PMID:26884880   PMID:26898429   PMID:26909965   PMID:26925658   PMID:26936466   PMID:26938431   PMID:26954070   PMID:26967970  
PMID:27011006   PMID:27067600   PMID:27084675   PMID:27107596   PMID:27165246   PMID:27166553   PMID:27221895   PMID:27248496   PMID:27268481   PMID:27279507   PMID:27306318   PMID:27323109  
PMID:27323136   PMID:27328741   PMID:27372710   PMID:27393451   PMID:27465648   PMID:27487002   PMID:27487108   PMID:27525906   PMID:27592400   PMID:27637333   PMID:27668351   PMID:27706616  
PMID:27707541   PMID:27763529   PMID:27812739   PMID:27819744   PMID:27838878   PMID:27870881   PMID:27880917   PMID:27903984   PMID:27925687   PMID:27965414   PMID:27994036   PMID:28002403  
PMID:28110804   PMID:28184006   PMID:28192407   PMID:28198159   PMID:28230032   PMID:28315507   PMID:28332164   PMID:28391259   PMID:28396513   PMID:28397459   PMID:28415705   PMID:28423490  
PMID:28429350   PMID:28514442   PMID:28560653   PMID:28622826   PMID:28639054   PMID:28681695   PMID:28733204   PMID:28740101   PMID:28743242   PMID:28821613   PMID:28844589   PMID:28866241  
PMID:28893607   PMID:28906311   PMID:28926725   PMID:28976792   PMID:28983784   PMID:28986522   PMID:29020930   PMID:29095251   PMID:29110586   PMID:29132330   PMID:29153096   PMID:29205204  
PMID:29285737   PMID:29332455   PMID:29552790   PMID:29568061   PMID:29630930   PMID:29668892   PMID:29669111   PMID:29775861   PMID:29893275   PMID:29955842   PMID:30043545   PMID:30095663  
PMID:30109864   PMID:30148297   PMID:30160806   PMID:30165355   PMID:30225185   PMID:30254210   PMID:30260704   PMID:30275440   PMID:30297533   PMID:30328556   PMID:30358231   PMID:30362960  
PMID:30407287   PMID:30408066   PMID:30442351   PMID:30446622   PMID:30467244   PMID:30472145   PMID:30551406   PMID:30554943   PMID:30585729   PMID:30616520   PMID:30650352   PMID:30703296  
PMID:30744807   PMID:30804502   PMID:30816207   PMID:30833792   PMID:30844146   PMID:30850922   PMID:30870085   PMID:30893058   PMID:30954277   PMID:30971122   PMID:30987826   PMID:31004343  
PMID:31025604   PMID:31043584   PMID:31077069   PMID:31091453   PMID:31113197   PMID:31117842   PMID:31124634   PMID:31144657   PMID:31231123   PMID:31239290   PMID:31286393   PMID:31324530  
PMID:31478224   PMID:31527615   PMID:31544312   PMID:31586073   PMID:31669203   PMID:31709821   PMID:31812125   PMID:31820401   PMID:31827649   PMID:31855267   PMID:31862643   PMID:31898659  
PMID:31997432   PMID:32185826   PMID:32192442   PMID:32212791   PMID:32324932   PMID:32358378   PMID:32416067   PMID:32461665   PMID:32504494   PMID:32519309   PMID:32562117   PMID:32564733  
PMID:32572027   PMID:32603833   PMID:32643432   PMID:32711416   PMID:32711417   PMID:32711433   PMID:32719266   PMID:32767921   PMID:32780723   PMID:32916236   PMID:33053171   PMID:33087283  
PMID:33150172   PMID:33330937   PMID:33355950   PMID:33394233   PMID:33631241   PMID:33644029   PMID:33647453   PMID:33942220   PMID:33961781   PMID:34067421   PMID:34079125   PMID:34102106  
PMID:34111398   PMID:34151836   PMID:34237211   PMID:34278875   PMID:34289138   PMID:34319046   PMID:34331480   PMID:34339737   PMID:34348893   PMID:34373746   PMID:34379448   PMID:34582115  
PMID:34709727   PMID:34789190   PMID:34811483   PMID:34918657   PMID:35055077   PMID:35140242   PMID:35164849   PMID:35191782   PMID:35271311   PMID:35457130  


Genomics

Comparative Map Data
XRCC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381943,543,311 - 43,575,527 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1943,543,311 - 43,580,473 (-)EnsemblGRCh38hg38GRCh38
GRCh371944,047,463 - 44,079,679 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361948,739,304 - 48,771,555 (-)NCBINCBI36hg18NCBI36
Build 341948,739,303 - 48,771,555NCBI
Celera1940,850,091 - 40,882,209 (-)NCBI
Cytogenetic Map19q13.31NCBI
HuRef1940,478,136 - 40,510,489 (-)NCBIHuRef
CHM1_11944,049,115 - 44,081,452 (-)NCBICHM1_1
T2T-CHM13v2.01946,364,840 - 46,397,157 (-)NCBI
Xrcc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39724,246,124 - 24,272,863 (+)NCBIGRCm39mm39
GRCm39 Ensembl724,245,714 - 24,272,865 (+)Ensembl
GRCm38724,546,699 - 24,573,438 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl724,546,289 - 24,573,440 (+)EnsemblGRCm38mm10GRCm38
MGSCv37725,332,169 - 25,358,457 (+)NCBIGRCm37mm9NCBIm37
MGSCv36724,255,049 - 24,282,192 (+)NCBImm8
Celera719,161,255 - 19,187,540 (+)NCBICelera
Cytogenetic Map7A3NCBI
cM Map711.42NCBI
Xrcc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2180,140,495 - 80,168,705 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl180,141,207 - 80,168,701 (+)Ensembl
Rnor_6.0181,412,635 - 81,441,680 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl181,413,353 - 81,441,678 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0182,673,571 - 82,701,082 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4179,834,167 - 79,860,300 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1179,912,277 - 79,938,411 (+)NCBI
Celera174,594,313 - 74,621,523 (+)NCBICelera
Cytogenetic Map1q21NCBI
Xrcc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555551,293,416 - 1,315,839 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555551,293,416 - 1,315,839 (-)NCBIChiLan1.0ChiLan1.0
XRCC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11949,093,928 - 49,125,723 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1949,094,014 - 49,125,520 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01940,485,052 - 40,522,188 (-)NCBIMhudiblu_PPA_v0panPan3
XRCC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11111,548,719 - 111,571,816 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1111,548,719 - 111,571,816 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1111,028,445 - 111,051,541 (+)NCBI
ROS_Cfam_1.01112,158,850 - 112,181,954 (+)NCBI
ROS_Cfam_1.0 Ensembl1112,158,850 - 112,181,954 (+)Ensembl
UMICH_Zoey_3.11111,746,938 - 111,770,215 (+)NCBI
UNSW_CanFamBas_1.01111,380,774 - 111,403,889 (+)NCBI
UU_Cfam_GSD_1.01112,265,054 - 112,288,168 (+)NCBI
Xrcc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934916,407,084 - 16,436,413 (-)NCBI
SpeTri2.0NW_004936706752,571 - 783,746 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XRCC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl650,403,686 - 50,425,710 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1650,403,691 - 50,425,730 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2646,158,742 - 46,180,744 (-)NCBISscrofa10.2Sscrofa10.2susScr3
XRCC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1637,062,149 - 37,095,138 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl637,060,439 - 37,095,094 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607316,603,474 - 16,637,686 (-)NCBIVero_WHO_p1.0
Xrcc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249071,087,611 - 1,113,266 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046249071,087,611 - 1,113,275 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D19S408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,047,434 - 44,047,569UniSTSGRCh37
Build 361948,739,274 - 48,739,409RGDNCBI36
Celera1940,850,061 - 40,850,196RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,478,106 - 40,478,239UniSTS
Marshfield Genetic Map1967.37UniSTS
Marshfield Genetic Map1967.37RGD
Genethon Genetic Map1967.1UniSTS
deCODE Assembly Map1969.79UniSTS
Whitehead-RH Map19327.6UniSTS
Whitehead-YAC Contig Map19 UniSTS
NCBI RH Map19442.2UniSTS
RH48808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,049,986 - 44,050,226UniSTSGRCh37
Build 361948,741,826 - 48,742,066RGDNCBI36
Celera1940,852,613 - 40,852,853RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,480,657 - 40,480,897UniSTS
GeneMap99-GB4 RH Map19247.53UniSTS
SHGC-2304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,047,457 - 44,047,557UniSTSGRCh37
Build 361948,739,297 - 48,739,397RGDNCBI36
Celera1940,850,084 - 40,850,184RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,478,129 - 40,478,227UniSTS
TNG Radiation Hybrid Map1916272.0UniSTS
G64200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,079,260 - 44,079,660UniSTSGRCh37
Build 361948,771,100 - 48,771,500RGDNCBI36
Celera1940,881,739 - 40,882,139RGD
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.2UniSTS
HuRef1940,510,019 - 40,510,419UniSTS
G64133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,078,957 - 44,079,304UniSTSGRCh37
Build 361948,770,797 - 48,771,144RGDNCBI36
Celera1940,881,436 - 40,881,783RGD
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.2UniSTS
HuRef1940,509,716 - 40,510,063UniSTS
G64148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,055,652 - 44,056,123UniSTSGRCh37
Build 361948,747,492 - 48,747,963RGDNCBI36
Celera1940,858,133 - 40,858,604RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,486,426 - 40,486,897UniSTS
G64149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,050,013 - 44,050,346UniSTSGRCh37
Build 361948,741,853 - 48,742,186RGDNCBI36
Celera1940,852,640 - 40,852,973RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,480,684 - 40,481,017UniSTS
G64150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,049,829 - 44,050,110UniSTSGRCh37
Build 361948,741,669 - 48,741,950RGDNCBI36
Celera1940,852,456 - 40,852,737RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,480,500 - 40,480,781UniSTS
G64145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,064,904 - 44,065,288UniSTSGRCh37
Build 361948,756,744 - 48,757,128RGDNCBI36
Celera1940,867,383 - 40,867,767RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,495,677 - 40,496,061UniSTS
G64146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,058,700 - 44,059,131UniSTSGRCh37
Build 361948,750,540 - 48,750,971RGDNCBI36
Celera1940,861,182 - 40,861,613RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,489,475 - 40,489,906UniSTS
D10S2482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,047,469 - 44,047,578UniSTSGRCh37
Build 361948,739,309 - 48,739,418RGDNCBI36
Celera1940,850,096 - 40,850,205RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,478,141 - 40,478,248UniSTS
RH17697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,047,399 - 44,047,555UniSTSGRCh37
Build 361948,739,239 - 48,739,395RGDNCBI36
Celera1940,850,026 - 40,850,182RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,478,071 - 40,478,225UniSTS
GeneMap99-GB4 RH Map19247.53UniSTS
SHGC-30018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,047,473 - 44,047,622UniSTSGRCh37
Build 361948,739,313 - 48,739,462RGDNCBI36
Celera1940,850,100 - 40,850,249RGD
Cytogenetic Map19q13.2UniSTS
HuRef1940,478,145 - 40,478,292UniSTS
TNG Radiation Hybrid Map1916264.0UniSTS
Stanford-G3 RH Map192146.0UniSTS
GeneMap99-GB4 RH Map19247.53UniSTS
Whitehead-RH Map19324.0UniSTS
NCBI RH Map19470.1UniSTS
GeneMap99-G3 RH Map192157.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2486
Count of miRNA genes:834
Interacting mature miRNAs:1002
Transcripts:ENST00000262887, ENST00000543982, ENST00000594107, ENST00000594511, ENST00000595789, ENST00000597811, ENST00000598165, ENST00000598422, ENST00000599693
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2389 2227 1384 300 1792 143 4003 1464 3022 356 1456 1611 175 1 1177 2436 5 1
Low 50 764 342 324 159 322 354 733 712 63 4 2 27 352 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF512504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP349667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX682561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX682562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC355796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC355797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC355798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF848660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L34079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC061196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC061197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC061199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC070233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC070662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC070663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC070664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC070665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z23736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262887   ⟹   ENSP00000262887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1943,543,311 - 43,575,527 (-)Ensembl
RefSeq Acc Id: ENST00000543982   ⟹   ENSP00000443671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1943,543,312 - 43,575,563 (-)Ensembl
RefSeq Acc Id: ENST00000594107   ⟹   ENSP00000471159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1943,553,065 - 43,575,527 (-)Ensembl
RefSeq Acc Id: ENST00000594511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1943,574,529 - 43,575,504 (-)Ensembl
RefSeq Acc Id: ENST00000595789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1943,552,073 - 43,575,506 (-)Ensembl
RefSeq Acc Id: ENST00000597811   ⟹   ENSP00000470391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1943,551,571 - 43,560,949 (-)Ensembl
RefSeq Acc Id: ENST00000598165   ⟹   ENSP00000470045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1943,552,244 - 43,580,473 (-)Ensembl
RefSeq Acc Id: ENST00000598422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1943,552,078 - 43,553,777 (-)Ensembl
RefSeq Acc Id: ENST00000599693   ⟹   ENSP00000472128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1943,552,991 - 43,580,434 (-)Ensembl
RefSeq Acc Id: NM_006297   ⟹   NP_006288
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,543,311 - 43,575,527 (-)NCBI
GRCh371944,047,464 - 44,079,730 (-)ENTREZGENE
Build 361948,739,304 - 48,771,555 (-)NCBI Archive
HuRef1940,478,136 - 40,510,489 (-)ENTREZGENE
CHM1_11944,049,115 - 44,081,452 (-)NCBI
T2T-CHM13v2.01946,364,840 - 46,397,157 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006288   ⟸   NM_006297
- UniProtKB: P18887 (UniProtKB/Swiss-Prot),   B2RCY5 (UniProtKB/TrEMBL),   Q59HH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000443671   ⟸   ENST00000543982
RefSeq Acc Id: ENSP00000470391   ⟸   ENST00000597811
RefSeq Acc Id: ENSP00000470045   ⟸   ENST00000598165
RefSeq Acc Id: ENSP00000472128   ⟸   ENST00000599693
RefSeq Acc Id: ENSP00000262887   ⟸   ENST00000262887
RefSeq Acc Id: ENSP00000471159   ⟸   ENST00000594107
Protein Domains
BRCT   XRCC1_N

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P18887-F1-model_v2 AlphaFold P18887 1-633 view protein structure

Promoters
RGD ID:7240233
Promoter ID:EPDNEW_H25863
Type:initiation region
Name:XRCC1_1
Description:X-ray repair cross complementing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25865  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,575,527 - 43,575,587EPDNEW
RGD ID:7240239
Promoter ID:EPDNEW_H25865
Type:initiation region
Name:XRCC1_2
Description:X-ray repair cross complementing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25863  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381943,580,497 - 43,580,557EPDNEW
RGD ID:6796243
Promoter ID:HG_KWN:30152
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006297
Position:
Human AssemblyChrPosition (strand)Source
Build 361948,771,311 - 48,771,811 (-)MPROMDB
RGD ID:6853610
Promoter ID:EP74623
Type:initiation region
Name:HS_XRCC1
Description:X-ray repair complementing defective repair in Chinese hamster 1lls 1.
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:No map positions available.

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3 copy number gain See cases [RCV000054150] Chr19:43303334..43576458 [GRCh38]
Chr19:43807486..44080610 [GRCh37]
Chr19:48499326..48772450 [NCBI36]
Chr19:19q13.31
uncertain significance
GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3 copy number gain See cases [RCV000054151] Chr19:43338231..43853163 [GRCh38]
Chr19:43842383..44357315 [GRCh37]
Chr19:48534223..49049155 [NCBI36]
Chr19:19q13.31
uncertain significance
NM_006297.2(XRCC1):c.422C>T (p.Pro141Leu) single nucleotide variant Malignant melanoma [RCV000072192] Chr19:43553676 [GRCh38]
Chr19:44057828 [GRCh37]
Chr19:48749668 [NCBI36]
Chr19:19q13.31
not provided
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) single nucleotide variant Platinum compounds response - Efficacy [RCV000660800]|not provided [RCV001696185] Chr19:43551574 [GRCh38]
Chr19:44055726 [GRCh37]
Chr19:19q13.31
benign|drug response
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3 copy number gain See cases [RCV000135231] Chr19:43338231..43570437 [GRCh38]
Chr19:43842383..44074589 [GRCh37]
Chr19:48534223..48766429 [NCBI36]
Chr19:19q13.31
likely benign
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
NM_006297.3(XRCC1):c.580C>T (p.Arg194Trp) single nucleotide variant Non-small cell lung carcinoma [RCV000444869]|not provided [RCV001637014] Chr19:43553422 [GRCh38]
Chr19:44057574 [GRCh37]
Chr19:19q13.31
benign|not provided
NM_006297.3(XRCC1):c.1393C>T (p.Gln465Ter) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 26 [RCV000499383] Chr19:43546628 [GRCh38]
Chr19:44050780 [GRCh37]
Chr19:19q13.31
pathogenic
NM_006297.3(XRCC1):c.1293G>C (p.Lys431Asn) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 26 [RCV000503104] Chr19:43546884 [GRCh38]
Chr19:44051036 [GRCh37]
Chr19:19q13.31
pathogenic
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
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
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del) microsatellite Spinocerebellar ataxia, autosomal recessive 26 [RCV000662130] Chr19:43552851..43552853 [GRCh38]
Chr19:44057003..44057005 [GRCh37]
Chr19:19q13.31
uncertain significance
GRCh37/hg19 19q13.31(chr19:43846269-44055858)x4 copy number gain not provided [RCV000684072] Chr19:43846269..44055858 [GRCh37]
Chr19:19q13.31
uncertain significance
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
Single allele duplication Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31
likely 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_006297.3(XRCC1):c.1407C>T (p.Asp469=) single nucleotide variant not provided [RCV000940692] Chr19:43546614 [GRCh38]
Chr19:44050766 [GRCh37]
Chr19:19q13.31
likely benign
NM_006297.3(XRCC1):c.202G>A (p.Val68Met) single nucleotide variant not provided [RCV000921488] Chr19:43560963 [GRCh38]
Chr19:44065115 [GRCh37]
Chr19:19q13.31
likely benign
NM_006297.3(XRCC1):c.482C>T (p.Pro161Leu) single nucleotide variant not provided [RCV000966076] Chr19:43553616 [GRCh38]
Chr19:44057768 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.1083-4C>G single nucleotide variant not provided [RCV000959571] Chr19:43551691 [GRCh38]
Chr19:44055843 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.1221T>A (p.Gly407=) single nucleotide variant not provided [RCV000901136] Chr19:43546956 [GRCh38]
Chr19:44051108 [GRCh37]
Chr19:19q13.31
likely benign
NM_006297.3(XRCC1):c.215T>C (p.Val72Ala) single nucleotide variant not provided [RCV000883539] Chr19:43560950 [GRCh38]
Chr19:44065102 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.1622-9C>G single nucleotide variant not provided [RCV000943291] Chr19:43544243 [GRCh38]
Chr19:44048395 [GRCh37]
Chr19:19q13.31
likely benign
NM_006297.3(XRCC1):c.291C>T (p.Ser97=) single nucleotide variant not provided [RCV000898194] Chr19:43554769 [GRCh38]
Chr19:44058921 [GRCh37]
Chr19:19q13.31
likely benign
NM_006297.3(XRCC1):c.851C>T (p.Thr284Ile) single nucleotide variant not provided [RCV000879920] Chr19:43552248 [GRCh38]
Chr19:44056400 [GRCh37]
Chr19:19q13.31
benign|likely benign
NM_006297.3(XRCC1):c.978G>T (p.Val326=) single nucleotide variant not provided [RCV000900482] Chr19:43552121 [GRCh38]
Chr19:44056273 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.899G>A (p.Arg300Gln) single nucleotide variant not provided [RCV000906634] Chr19:43552200 [GRCh38]
Chr19:44056352 [GRCh37]
Chr19:19q13.31
likely benign
NM_006297.3(XRCC1):c.900A>G (p.Arg300=) single nucleotide variant not provided [RCV000893048] Chr19:43552199 [GRCh38]
Chr19:44056351 [GRCh37]
Chr19:19q13.31
benign
GRCh37/hg19 19q13.31(chr19:43803157-44105375)x3 copy number gain not provided [RCV000845850] Chr19:43803157..44105375 [GRCh37]
Chr19:19q13.31
uncertain significance
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_006297.3(XRCC1):c.414+8G>A single nucleotide variant not provided [RCV000918821] Chr19:43554638 [GRCh38]
Chr19:44058790 [GRCh37]
Chr19:19q13.31
likely benign
GRCh37/hg19 19q13.31(chr19:43818072-44100076)x3 copy number gain not provided [RCV000848508] Chr19:43818072..44100076 [GRCh37]
Chr19:19q13.31
uncertain significance
GRCh37/hg19 19q13.31(chr19:44004424-44080746)x3 copy number gain not provided [RCV000847663] Chr19:44004424..44080746 [GRCh37]
Chr19:19q13.31
uncertain significance
NM_006297.3(XRCC1):c.1083-11dup duplication not provided [RCV000962687] Chr19:43551692..43551693 [GRCh38]
Chr19:44055844..44055845 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.234C>T (p.Gly78=) single nucleotide variant not provided [RCV000914579] Chr19:43560931 [GRCh38]
Chr19:44065083 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.320G>A (p.Arg107His) single nucleotide variant not provided [RCV000909228] Chr19:43554740 [GRCh38]
Chr19:44058892 [GRCh37]
Chr19:19q13.31
likely benign
NM_006297.3(XRCC1):c.150G>A (p.Glu50=) single nucleotide variant not provided [RCV000881946] Chr19:43561015 [GRCh38]
Chr19:44065167 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.818C>T (p.Pro273Leu) single nucleotide variant not provided [RCV000910804] Chr19:43552802 [GRCh38]
Chr19:44056954 [GRCh37]
Chr19:19q13.31
likely benign
NM_006297.3(XRCC1):c.910A>G (p.Thr304Ala) single nucleotide variant not provided [RCV000957979] Chr19:43552189 [GRCh38]
Chr19:44056341 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.570C>G (p.Leu190=) single nucleotide variant not provided [RCV000957980] Chr19:43553432 [GRCh38]
Chr19:44057584 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.483G>A (p.Pro161=) single nucleotide variant not provided [RCV000912500] Chr19:43553615 [GRCh38]
Chr19:44057767 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.1481+9G>A single nucleotide variant not provided [RCV001651867] Chr19:43546043 [GRCh38]
Chr19:44050195 [GRCh37]
Chr19:19q13.31
benign
NM_006297.3(XRCC1):c.20G>T (p.Arg7Leu) single nucleotide variant not provided [RCV001531474] Chr19:43575439 [GRCh38]
Chr19:44079591 [GRCh37]
Chr19:19q13.31
uncertain significance
NM_006297.3(XRCC1):c.1738C>T (p.Arg580Trp) single nucleotide variant Spinocerebellar ataxia, autosomal recessive 26 [RCV001334530] Chr19:43543662 [GRCh38]
Chr19:44047814 [GRCh37]
Chr19:19q13.31
uncertain significance
NM_006297.3(XRCC1):c.1016G>A (p.Arg339Gln) single nucleotide variant not provided [RCV001771051] Chr19:43552083 [GRCh38]
Chr19:44056235 [GRCh37]
Chr19:19q13.31
uncertain significance
NM_006297.3(XRCC1):c.251A>G (p.Tyr84Cys) single nucleotide variant not provided [RCV001815861] Chr19:43560914 [GRCh38]
Chr19:44065066 [GRCh37]
Chr19:19q13.31
uncertain significance
NM_006297.3(XRCC1):c.1454C>A (p.Ser485Tyr) single nucleotide variant not provided [RCV001816244] Chr19:43546079 [GRCh38]
Chr19:44050231 [GRCh37]
Chr19:19q13.31
uncertain significance
GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076) copy number gain not specified [RCV002052685] Chr19:43082847..44100076 [GRCh37]
Chr19:19q13.2-13.31
uncertain significance
NM_006297.3(XRCC1):c.1713G>A (p.Gly571=) single nucleotide variant not provided [RCV002214118] Chr19:43543687 [GRCh38]
Chr19:44047839 [GRCh37]
Chr19:19q13.31
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12828 AgrOrtholog
COSMIC XRCC1 COSMIC
Ensembl Genes ENSG00000073050 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262887 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000443671 UniProtKB/TrEMBL
  ENSP00000470045 UniProtKB/TrEMBL
  ENSP00000470391 UniProtKB/TrEMBL
  ENSP00000471159 UniProtKB/TrEMBL
  ENSP00000472128 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262887 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000543982 UniProtKB/TrEMBL
  ENST00000594107 UniProtKB/TrEMBL
  ENST00000597811 UniProtKB/TrEMBL
  ENST00000598165 UniProtKB/TrEMBL
  ENST00000599693 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000073050 GTEx
HGNC ID HGNC:12828 ENTREZGENE
Human Proteome Map XRCC1 Human Proteome Map
InterPro BRCT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_XRCC1_rpt1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Xrcc1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7515 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7515 ENTREZGENE
OMIM 194360 OMIM
  617633 OMIM
Pfam BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRCT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XRCC1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA369 PharmGKB, RGD
PROSITE BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R0S8_HUMAN UniProtKB/TrEMBL
  B2RCY5 ENTREZGENE, UniProtKB/TrEMBL
  F5H8D7_HUMAN UniProtKB/TrEMBL
  L7QJP1_HUMAN UniProtKB/TrEMBL
  M0QYS5_HUMAN UniProtKB/TrEMBL
  M0QZ96_HUMAN UniProtKB/TrEMBL
  M0R0D2_HUMAN UniProtKB/TrEMBL
  M0R1U8_HUMAN UniProtKB/TrEMBL
  M4WET6_HUMAN UniProtKB/TrEMBL
  M4WFF9_HUMAN UniProtKB/TrEMBL
  M4WIP6_HUMAN UniProtKB/TrEMBL
  P18887 ENTREZGENE
  Q59HH7 ENTREZGENE, UniProtKB/TrEMBL
  V9VB20_HUMAN UniProtKB/TrEMBL
  XRCC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6IBS4 UniProtKB/Swiss-Prot
  Q9HCB1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 XRCC1  X-ray repair cross complementing 1    X-ray repair complementing defective repair in Chinese hamster cells 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 XRCC1  X-ray repair complementing defective repair in Chinese hamster cells 1  XRCC1  X-ray repair complementing defective repair in Chinese hamster cells 1  Symbol and/or name change 5135510 APPROVED