XRCC1 (X-ray repair cross complementing 1)

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:12828

Description:

Enables several functions, including ADP-D-ribose modification-dependent protein binding activity; oxidized DNA binding activity; and poly-ADP-D-ribose binding activity. Involved in several processes, including DNA repair; positive regulation of single strand break repair; and voluntary musculoskeletal movement. Located in nucleolus and nucleoplasm. Part of chromatin. Is active in site of DNA damage. Implicated in several diseases, including artery disease (multiple); carcinoma (multiple); central nervous system cancer (multiple); gastrointestinal system cancer (multiple); and hematologic 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

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	43,543,311 - 43,575,527 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	43,543,311 - 43,580,473 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	44,047,463 - 44,079,679 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	48,739,304 - 48,771,555 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	48,739,303 - 48,771,555	NCBI
Celera	19	40,850,091 - 40,882,209 (-)	NCBI		Celera
Cytogenetic Map	19	q13.31	NCBI
HuRef	19	40,478,136 - 40,510,489 (-)	NCBI		HuRef
CHM1_1	19	44,049,115 - 44,081,452 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	46,364,840 - 46,397,157 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

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)

brain glioma (IAGP)

Breast Neoplasms (IAGP)

cataract (ISO)

central nervous system cancer (IAGP)

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)

coronary artery disease (IAGP)

diabetic retinopathy (IAGP)

Erythema (EXP)

esophageal cancer (IAGP)

esophagus squamous cell carcinoma (EXP,IAGP)

ethylmalonic encephalopathy (IAGP)

gallbladder cancer (IAGP)

gastric cardia adenocarcinoma (IAGP)

gastric cardia carcinoma (IAGP)

genetic disease (IAGP)

glioblastoma (IAGP)

hepatitis A (IAGP)

hepatitis B (IAGP)

hepatocellular carcinoma (IAGP,IEA)

high grade glioma (EXP,IAGP)

Human Viral Hepatitis (IAGP)

hypertension (IAGP)

impotence (IAGP)

in situ carcinoma (ISO)

invasive ductal carcinoma (IAGP)

laryngeal carcinoma (IAGP)

laryngeal squamous cell 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)

meningioma (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)

thyroid gland papillary carcinoma (IAGP)

transient cerebral ischemia (ISO)

transitional cell carcinoma (IAGP)

type 2 diabetes mellitus (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)

4,4'-sulfonyldiphenol (ISO)

4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (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)

bisphenol F (ISO)

bleomycin A2 (EXP)

buta-1,3-diene (EXP,ISO)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

camptothecin (EXP)

carbamazepine (EXP)

chloroethene (EXP,ISO)

chlorpyrifos (EXP)

chromium(6+) (EXP)

cisplatin (EXP)

clofibrate (ISO)

copper(II) sulfate (EXP)

coumarin (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 (EXP,ISO)

formaldehyde (EXP)

FR900359 (EXP)

furan (ISO)

gefitinib (EXP)

genistein (ISO)

ginsenoside Rg1 (EXP)

glutathione (ISO)

hydrogen peroxide (EXP)

idarubicin (ISO)

indometacin (EXP)

ivermectin (EXP)

L-ascorbic acid (EXP)

lead chromate (EXP)

lead(0) (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 (EXP,ISO)

NAD(+) (EXP,ISO)

nicotine (EXP)

olaparib (EXP)

oxaliplatin (EXP)

paracetamol (ISO)

paraquat (EXP,ISO)

PhIP (ISO)

pioglitazone (ISO)

piperonyl butoxide (ISO)

platinum (EXP)

platinum(0) (EXP)

reactive oxygen species (EXP,ISO)

resveratrol (EXP,ISO)

S-adenosyl-L-methioninate (EXP)

S-adenosyl-L-methionine (EXP)

SB 431542 (EXP)

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)

veliparib (EXP)

vorinostat (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

base-excision repair (IBA,IDA,IEA,ISO)

cerebellum morphogenesis (IEA)

DNA damage response (IEA,ISO)

DNA repair (IEA,ISO)

double-strand break repair via nonhomologous end joining (IEA)

hippocampus development (IEA,ISO)

negative regulation of protection from non-homologous end joining at telomere (IEA)

positive regulation of single strand break repair (IEA,IGI,IMP)

replication-born double-strand break repair via sister chromatid exchange (IMP)

response to hydroperoxide (IDA)

response to hypoxia (IEA,ISO)

response to xenobiotic stimulus (IEA,ISO)

single strand break repair (IEA)

telomeric DNA-containing double minutes formation (IEA)

voluntary musculoskeletal movement (IEA,IMP)

Cellular Component

chromatin (IDA)

chromosome (IEA)

chromosome, telomeric region (IEA)

ERCC4-ERCC1 complex (IEA)

nucleolus (IDA)

nucleoplasm (IDA,IEA,TAS)

nucleus (IBA,IEA)

site of DNA damage (IDA)

Molecular Function

3' overhang single-stranded DNA endodeoxyribonuclease activity (IEA,ISO)

ADP-D-ribose modification-dependent protein binding (IDA)

damaged DNA binding (IEA)

enzyme binding (IPI)

oxidized DNA binding (IMP)

poly-ADP-D-ribose binding (IDA)

protein binding (IPI,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

base excision repair pathway (IEA,TAS)

nucleotide excision repair pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal B cell morphology (IAGP)

Abnormal leukocyte morphology (IAGP)

Abnormal lymph node morphology (IAGP)

Abnormal platelet count (IAGP)

Abnormality of blood and blood-forming tissues (IAGP)

Age-related cataract (IAGP)

Areflexia (IAGP)

Autosomal recessive inheritance (IAGP)

Bladder carcinoma (IAGP)

Cerebellar atrophy (IAGP)

Cirrhosis (IAGP)

Coronary artery atherosclerosis (IAGP)

Decreased circulating alpha-fetoprotein concentration (IAGP)

Diarrhea (IAGP)

Distal muscle weakness (IAGP)

Dysarthria (IAGP)

Dysdiadochokinesis (IAGP)

Dysmetria (IAGP)

Dysphagia (IAGP)

Elevated circulating alanine aminotransferase concentration (IAGP)

Elevated circulating alkaline phosphatase concentration (IAGP)

Elevated circulating alpha-fetoprotein concentration (IAGP)

Elevated circulating aspartate aminotransferase concentration (IAGP)

Elevated circulating hepatic transaminase concentration (IAGP)

Esophageal carcinoma (IAGP)

Esophageal neoplasm (IAGP)

Gait ataxia (IAGP)

Gastric adenocarcinoma (IAGP)

Glioma (IAGP)

Hepatic fibrosis (IAGP)

Hepatocellular carcinoma (IAGP)

Horizontal nystagmus (IAGP)

Hypermetric saccades (IAGP)

Hypertension (IAGP)

Hypoalbuminemia (IAGP)

Impaired distal proprioception (IAGP)

Impaired distal vibration sensation (IAGP)

Increased hepatitis A virus antibody level (IAGP)

Increased hepatitis C virus antibody level (IAGP)

Late young adult onset (IAGP)

Leukopenia (IAGP)

Limb ataxia (IAGP)

Lymphopenia (IAGP)

Meningioma (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)

Oculomotor apraxia (IAGP)

Oropharyngeal squamous cell carcinoma (IAGP)

Papillary thyroid carcinoma (IAGP)

Positive Romberg sign (IAGP)

Progressive (IAGP)

Reduced circulating C-reactive protein concecntration (IAGP)

Retinopathy (IAGP)

Saccadic smooth pursuit (IAGP)

Schizophrenia (IAGP)

Sensorimotor neuropathy (IAGP)

Stomach cancer (IAGP)

Thrombocytopenia (IAGP)

Type II diabetes mellitus (IAGP)

Unsteady gait (IAGP)

Viral hepatitis (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma.	Akulevich NM, etal., Endocr Relat Cancer. 2009 Jun;16(2):491-503. doi: 10.1677/ERC-08-0336. Epub 2009 Mar 13.
2.	Genetic polymorphisms and metastatic breast cancer survival.	Allen-Brady K Future Oncol. 2007 Apr;3(2):155-8.
3.	The X-ray repair cross complementing protein 1 (XRCC1) rs25487 polymorphism and susceptibility to cirrhosis in Brazilian patients with chronic viral hepatitis.	Almeida Pereira Leite ST, etal., Ann Hepatol. 2013 Sep-Oct;12(5):733-9.
4.	DNA repair gene hOGG1 codon 326 and XRCC1 codon 399 polymorphisms and bladder cancer risk in a Japanese population.	Arizono K, etal., Jpn J Clin Oncol. 2008 Mar;38(3):186-91. doi: 10.1093/jjco/hym176. Epub 2008 Feb 12.
5.	The value of XPD and XRCC1 genotype polymorphisms to predict clinical outcome in metastatic colorectal carcinoma patients with irinotecan-based regimens.	Artac M, etal., J Cancer Res Clin Oncol. 2010 Jun;136(6):803-9. doi: 10.1007/s00432-009-0720-3. Epub 2009 Nov 12.
6.	DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia.	Batar B, etal., Leuk Res. 2009 Jun;33(6):759-63. doi: 10.1016/j.leukres.2008.11.005. Epub 2008 Dec 19.
7.	The X-ray Repair Cross-Complementing Group 1 Arg399Gln Genetic Polymorphism and Risk of Hepatocellular Carcinoma in an Iranian Population.	Bazgir A, etal., Middle East J Dig Dis. 2018 Jan;10(1):40-44. doi: 10.15171/mejdd.2017.89. Epub 2018 Jan 10.
8.	The genetic association database.	Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
9.	Association study of single nucleotide polymorphisms in XRCC1 gene with risk of hepatocellular carcinoma in Chinese Han population.	Bi J, etal., Biomed Res Int. 2013;2013:138785. doi: 10.1155/2013/138785. Epub 2013 Jul 30.
10.	Genetic polymorphisms of CYP2E1 and DNA repair genes HOGG1 and XRCC1: association with hepatitis B related advanced liver disease and cancer.	Bose S, etal., Gene. 2013 May 1;519(2):231-7. doi: 10.1016/j.gene.2013.02.025. Epub 2013 Feb 27.
11.	An intronic polymorphism associated with increased XRCC1 expression, reduced apoptosis and familial breast cancer.	Bu D, etal., Breast Cancer Res Treat. 2006 Oct;99(3):257-65. Epub 2006 Apr 5.
12.	Association of single nucleotide polymorphisms in SOD2, XRCC1 and XRCC3 with susceptibility for the development of adverse effects resulting from radiotherapy for prostate cancer.	Burri RJ, etal., Radiat Res. 2008 Jul;170(1):49-59.
13.	Polymorphisms of XRCC1 genes and risk of nasopharyngeal carcinoma in the Cantonese population.	Cao Y, etal., BMC Cancer. 2006 Jun 26;6:167. doi: 10.1186/1471-2407-6-167.
14.	Investigating the association between XRCC1 gene polymorphisms and susceptibility to gastric cancer.	Chen S, etal., Genet Mol Res. 2016 Sep 9;15(3). pii: gmr8342. doi: 10.4238/gmr.15038342.
15.	Haplotype analysis of the XRCC1 gene and laryngeal cancer.	Chen W, etal., Genet Test Mol Biomarkers. 2014 Jul;18(7):525-9. doi: 10.1089/gtmb.2013.0434. Epub 2014 Jun 23.
16.	Interplay between base excision repair protein XRCC1 and ALDH2 predicts overall survival in lung and liver cancer patients.	Chen X, etal., Cell Oncol (Dordr). 2018 Oct;41(5):527-539. doi: 10.1007/s13402-018-0390-8. Epub 2018 Aug 7.
17.	Association between the c.910A>G genetic variant of the XRCC1 gene and susceptibility to esophageal cancer in the Chinese Han population.	Chen XQ, etal., Braz J Med Biol Res. 2013 Dec;46(12):1028-1032. doi: 10.1590/1414-431X20133396. Epub 2013 Dec 2.
18.	mRNA levels of the hypoxia inducible factor (HIF-1) and DNA repair genes in perinatal asphyxia of the rat.	Chiappe-Gutierrez M, etal., Life Sci. 1998;63(13):1157-67.
19.	Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk.	De Ruyck K, etal., Mutat Res. 2007 Jul 28;631(2):101-10. doi: 10.1016/j.mrgentox.2007.03.010. Epub 2007 Apr 21.
20.	Clinical outcome of cisplatin-based chemotherapy is associated with the polymorphisms of GSTP1 and XRCC1 in advanced non-small cell lung cancer patients.	Deng JH, etal., Clin Transl Oncol. 2015 Sep;17(9):720-6. doi: 10.1007/s12094-015-1299-6. Epub 2015 Jun 2.
21.	Association between the C.1161G>A and C.1779C>G genetic variants of XRCC1 gene and hepatocellular carcinoma risk in Chinese population.	Deng X, etal., Int J Biol Sci. 2013;9(3):289-94. doi: 10.7150/ijbs.5928. Epub 2013 Mar 7.
22.	The XRCC1 399 glutamine allele is a risk factor for adenocarcinoma of the lung.	Divine KK, etal., Mutat Res. 2001 Jan 5;461(4):273-8. doi: 10.1016/s0921-8777(00)00059-8.
23.	Association between genetic polymorphisms in XPD and XRCC1 genes and risks of non-small cell lung cancer in East Chinese Han population.	Du Y, etal., Clin Respir J. 2016 May;10(3):311-7. doi: 10.1111/crj.12218. Epub 2014 Nov 3.
24.	The investigation of DNA repair polymorphisms with histopathological characteristics and hormone receptors in a group of Brazilian women with breast cancer.	Dufloth RM, etal., Genet Mol Res. 2008 Jul 1;7(3):574-82.
25.	DNA repair polymorphisms and treatment outcomes of patients with malignant mesothelioma treated with gemcitabine-platinum combination chemotherapy.	Erčulj N, etal., J Thorac Oncol. 2012 Oct;7(10):1609-17. doi: 10.1097/JTO.0b013e3182653d31.
26.	DNA base excision repair and nucleotide excision repair proteins in malignant salivary gland tumors.	Felix FA, etal., Arch Oral Biol. 2021 Jan;121:104987. doi: 10.1016/j.archoralbio.2020.104987. Epub 2020 Nov 11.
27.	XRCC1 Gene Polymorphisms and miR-21 Expression in Patients with Colorectal Carcinoma.	Fouad H, etal., Eurasian J Med. 2017 Jun;49(2):132-136. doi: 10.5152/eurasianjmed.2017.17021.
28.	DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemia.	Ganster C, etal., Genes Chromosomes Cancer. 2009 Sep;48(9):760-7. doi: 10.1002/gcc.20680.
29.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
30.	Evaluation of candidate genes associated with hepatitis A and E virus infection in Chinese Han population.	Gu M, etal., Virol J. 2018 Mar 20;15(1):47. doi: 10.1186/s12985-018-0962-2.
31.	XRCC1 and XPD polymorphisms and their relation to the clinical course in hepatocarcinoma patients.	Guan Q, etal., Oncol Lett. 2017 Sep;14(3):2783-2788. doi: 10.3892/ol.2017.6522. Epub 2017 Jul 5.
32.	Variant Alleles in XRCC1 Arg194Trp and Arg399Gln Polymorphisms Increase Risk of Gastrointestinal Cancer in Sabah, North Borneo.	Halim NH, etal., Asian Pac J Cancer Prev. 2016;17(4):1925-31. doi: 10.7314/apjcp.2016.17.4.1925.
33.	A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished promoter activity and increased risk of non-small cell lung cancer.	Hao B, etal., Oncogene. 2006 Jun 15;25(25):3613-20. doi: 10.1038/sj.onc.1209355. Epub 2006 May 1.
34.	Polymorphisms of DNA repair genes are associated with renal cell carcinoma.	Hirata H, etal., Biochem Biophys Res Commun. 2006 Apr 21;342(4):1058-62. Epub 2006 Feb 17.
35.	[Correlation of the sensitivity of NP chemotherapy in non-small lung cancer with DNA repair gene XRCC1 polymorphism].	Hong CY, etal., Ai Zheng. 2009 Dec;28(12):1291-7. doi: 10.5732/cjc.009.10139.
36.	Polymorphisms of XRCC1 gene, alcohol consumption and colorectal cancer.	Hong YC, etal., Int J Cancer. 2005 Sep 1;116(3):428-32. doi: 10.1002/ijc.21019.
37.	SNPs of GSTM1, T1, P1, epoxide hydrolase and DNA repair enzyme XRCC1 and risk of urinary transitional cell carcinoma in southwestern Taiwan.	Hsu LI, etal., Toxicol Appl Pharmacol. 2008 Apr 15;228(2):144-55. Epub 2007 Dec 14.
38.	Association between XRCC1 and ERCC1 single-nucleotide polymorphisms and the efficacy of concurrent radiochemotherapy in patients with esophageal squamous cell carcinoma.	Huang X, etal., Oncol Lett. 2017 Feb;13(2):704-714. doi: 10.3892/ol.2016.5496. Epub 2016 Dec 14.
39.	Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review.	Hung RJ, etal., Am J Epidemiol. 2005 Nov 15;162(10):925-42. Epub 2005 Oct 12.
40.	DNA repair gene XRCC1 Arg399Gln polymorphism is associated with increased risk of uterine leiomyoma.	Jeon YT, etal., Hum Reprod. 2005 Jun;20(6):1586-9. Epub 2005 Mar 10.
41.	Do genetic defects of DNA repair relevant proteins alter susceptibility to hypertension? A case-control study in northeastern Han Chinese.	Jia N, etal., Clin Chim Acta. 2015 Feb 20;441:171-5. doi: 10.1016/j.cca.2014.12.017. Epub 2014 Dec 18.
42.	Genetic polymorphisms of XRCC1 gene and susceptibility to hepatocellular carcinoma in Chinese population.	Jiang T, etal., Med Oncol. 2014 Apr;31(4):887. doi: 10.1007/s12032-014-0887-6. Epub 2014 Feb 26.
43.	Analyzing the association between XRCC1 c.1804C>A genetic variant and lung cancer susceptibility in the Chinese population.	Jin JJ, etal., Genet Mol Res. 2016 Jun 10;15(2). pii: gmr4661. doi: 10.4238/gmr.15024661.
44.	Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome.	Joshi D, etal., Ann Hematol. 2016 Jan;95(1):79-85.
45.	Assoication of XRCC1 gene polymorphisms with risk of non-small cell lung cancer.	Kang S, etal., Int J Clin Exp Pathol. 2015 Apr 1;8(4):4171-6. eCollection 2015.
46.	DNA repair genes polymorphisms and risk of colorectal cancer in Saudi patients.	Karam RA, etal., Arab J Gastroenterol. 2016 Sep;17(3):117-120. doi: 10.1016/j.ajg.2016.08.005. Epub 2016 Sep 27.
47.	XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associated with response to platinum-based neoadjuvant chemotherapy in cervical cancer.	Kim K, etal., Gynecol Oncol. 2008 Dec;111(3):509-15. Epub 2008 Oct 12.
48.	Polymorphism of DNA repair gene XRCC1 and hepatitis-related hepatocellular carcinoma risk in Indian population.	Kiran M, etal., Mol Cell Biochem. 2009 Jul;327(1-2):7-13. doi: 10.1007/s11010-009-0035-3. Epub 2009 Feb 5.
49.	XRCC1 and XRCC3 variants and risk of glioma and meningioma.	Kiuru A, etal., J Neurooncol. 2008 Jun;88(2):135-42. doi: 10.1007/s11060-008-9556-y.
50.	Sunitinib Inhibits Breast Cancer Cell Proliferation by Inducing Apoptosis, Cell-cycle Arrest and DNA Repair While Inhibiting NF-κB Signaling Pathways.	Korashy HM, etal., Anticancer Res. 2017 Sep;37(9):4899-4909. doi: 10.21873/anticanres.11899.
51.	A meta-analysis on XRCC1 R399Q and R194W polymorphisms, smoking and bladder cancer risk.	Lao T, etal., Mutagenesis. 2008 Nov;23(6):523-32. Epub 2008 Sep 2.
52.	Genetic polymorphisms of XRCC1 and risk of the esophageal cancer.	Lee JM, etal., Int J Cancer. 2001 Jul 20;95(4):240-6. doi: 10.1002/1097-0215(20010720)95:4<240::aid-ijc1041>3.0.co;2-1.
53.	DNA polymerases and repair synthesis in NER in human cells.	Lehmann AR DNA Repair (Amst). 2011 Jul 15;10(7):730-3. doi: 10.1016/j.dnarep.2011.04.023. Epub 2011 May 20.
54.	Single nucleotide polymorphisms of RecQ1, RAD54L, and ATM genes are associated with reduced survival of pancreatic cancer.	Li D, etal., J Clin Oncol. 2006 Apr 10;24(11):1720-8. Epub 2006 Mar 6.
55.	XRCC1 codon 399Gln polymorphism is associated with radiotherapy-induced acute dermatitis and mucositis in nasopharyngeal carcinoma patients.	Li H, etal., Radiat Oncol. 2013 Feb 1;8:31. doi: 10.1186/1748-717X-8-31.
56.	Ischemic preconditioning induces XRCC1, DNA polymerase-beta, and DNA ligase III and correlates with enhanced base excision repair.	Li N, etal., DNA Repair (Amst). 2007 Sep 1;6(9):1297-306. Epub 2007 Apr 6.
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PMID:19124519	PMID:19127428	PMID:19147860	PMID:19155274	PMID:19162321	PMID:19170196	PMID:19174490	PMID:19176223	PMID:19177501	PMID:19191745	PMID:19203783	PMID:19208635
PMID:19230024	PMID:19237606	PMID:19240242	PMID:19247656	PMID:19274602	PMID:19280628	PMID:19284666	PMID:19329222	PMID:19332728	PMID:19334053	PMID:19336415	PMID:19339270
PMID:19350405	PMID:19362955	PMID:19367277	PMID:19393248	PMID:19414392	PMID:19421825	PMID:19428062	PMID:19444915	PMID:19446452	PMID:19446740	PMID:19465687	PMID:19481337
PMID:19481674	PMID:19492240	PMID:19493423	PMID:19514640	PMID:19536092	PMID:19563645	PMID:19573080	PMID:19592152	PMID:19596613	PMID:19604089	PMID:19625176	PMID:19628051
PMID:19631990	PMID:19633665	PMID:19634112	PMID:19636001	PMID:19656722	PMID:19657998	PMID:19661089	PMID:19661379	PMID:19662459	PMID:19672255	PMID:19673050	PMID:19679847
PMID:19692168	PMID:19701703	PMID:19707910	PMID:19711438	PMID:19713684	PMID:19731014	PMID:19733688	PMID:19754350	PMID:19762325	PMID:19773279	PMID:19786980	PMID:19789190
PMID:19821085	PMID:19826048	PMID:19846968	PMID:19851285	PMID:19858398	PMID:19863846	PMID:19880550	PMID:19886181	PMID:19902366	PMID:19913121	PMID:19914098	PMID:19914697
PMID:19915856	PMID:19934257	PMID:19959686	PMID:19960344	PMID:19962393	PMID:19963133	PMID:20013148	PMID:20013659	PMID:20033188	PMID:20044627	PMID:20061190	PMID:20070155
PMID:20093049	PMID:20100738	PMID:20104979	PMID:20140625	PMID:20150366	PMID:20167976	PMID:20170971	PMID:20183911	PMID:20192583	PMID:20209647	PMID:20216541	PMID:20218899
PMID:20223788	PMID:20226869	PMID:20227374	PMID:20229274	PMID:20232390	PMID:20300859	PMID:20302655	PMID:20303835	PMID:20306073	PMID:20334523	PMID:20351257	PMID:20364408
PMID:20368715	PMID:20375340	PMID:20378691	PMID:20379614	PMID:20385586	PMID:20391347	PMID:20394984	PMID:20395310	PMID:20403997	PMID:20411322	PMID:20426969	PMID:20429839
PMID:20431719	PMID:20439344	PMID:20442803	PMID:20450747	PMID:20453000	PMID:20466601	PMID:20471329	PMID:20477822	PMID:20495366	PMID:20496165	PMID:20504250	PMID:20511665
PMID:20514470	PMID:20522537	PMID:20530453	PMID:20549339	PMID:20553853	PMID:20574454	PMID:20577654	PMID:20601096	PMID:20610542	PMID:20628086	PMID:20634891	PMID:20644561
PMID:20652227	PMID:20708344	PMID:20719408	PMID:20723587	PMID:20731661	PMID:20734048	PMID:20802378	PMID:20805321	PMID:20813000	PMID:20814250	PMID:20817763	PMID:20819327
PMID:20850372	PMID:20852942	PMID:20863523	PMID:20868244	PMID:20935060	PMID:20935063	PMID:20957144	PMID:20975374	PMID:20976253	PMID:20978448	PMID:20981350	PMID:21029695
PMID:21037106	PMID:21047201	PMID:21048041	PMID:21057378	PMID:21091896	PMID:21129812	PMID:21145461	PMID:21167658	PMID:21183201	PMID:21204762	PMID:21216841	PMID:21234761
PMID:21245954	PMID:21267572	PMID:21277872	PMID:21280222	PMID:21290343	PMID:21345510	PMID:21351625	PMID:21351626	PMID:21352951	PMID:21353781	PMID:21376741	PMID:21418871
PMID:21420246	PMID:21423097	PMID:21427728	PMID:21435086	PMID:21463129	PMID:21463130	PMID:21499756	PMID:21518531	PMID:21520294	PMID:21570215	PMID:21586140	PMID:21604176
PMID:21612998	PMID:21617750	PMID:21622940	PMID:21627375	PMID:21637298	PMID:21643959	PMID:21645210	PMID:21647176	PMID:21670956	PMID:21682595	PMID:21704413	PMID:21722819
PMID:21749698	PMID:21784313	PMID:21788800	PMID:21790234	PMID:21797115	PMID:21808882	PMID:21816818	PMID:21825151	PMID:21843798	PMID:21860547	PMID:21866464	PMID:21873635
PMID:21909257	PMID:21928248	PMID:21945240	PMID:21950097	PMID:21971103	PMID:21974800	PMID:21987112	PMID:22009704	PMID:22041025	PMID:22047709	PMID:22053659	PMID:22081374
PMID:22084859	PMID:22106831	PMID:22110224	PMID:22129893	PMID:22183071	PMID:22186158	PMID:22193858	PMID:22224629	PMID:22242598	PMID:22266871	PMID:22281126	PMID:22296363
PMID:22296379	PMID:22302399	PMID:22306120	PMID:22320953	PMID:22332413	PMID:22339849	PMID:22374554	PMID:22393969	PMID:22393975	PMID:22427030	PMID:22452940	PMID:22456434
PMID:22502651	PMID:22529951	PMID:22537351	PMID:22551904	PMID:22565339	PMID:22568010	PMID:22575451	PMID:22579466	PMID:22611936	PMID:22639094	PMID:22659345	PMID:22664944
PMID:22687647	PMID:22705987	PMID:22712837	PMID:22729882	PMID:22730687	PMID:22775506	PMID:22798271	PMID:22821704	PMID:22825692	PMID:22843073	PMID:22850545	PMID:22868082
PMID:22894650	PMID:22901125	PMID:22919255	PMID:22931768	PMID:22932335	PMID:22939629	PMID:22951806	PMID:22975644	PMID:22983827	PMID:22984511	PMID:22992732	PMID:23001975
PMID:23044807	PMID:23055018	PMID:23055199	PMID:23057594	PMID:23096083	PMID:23098440	PMID:23101479	PMID:23103366	PMID:23125080	PMID:23161045	PMID:23167352	PMID:23167354
PMID:23167420	PMID:23177933	PMID:23178593	PMID:23188703	PMID:23212324	PMID:23225521	PMID:23233244	PMID:23238971	PMID:23244082	PMID:23244100	PMID:23244143	PMID:23247283
PMID:23271025	PMID:23271134	PMID:23299794	PMID:23313170	PMID:23317230	PMID:23317245	PMID:23320983	PMID:23334690	PMID:23355608	PMID:23359058	PMID:23360319	PMID:23383237
PMID:23397959	PMID:23409158	PMID:23425027	PMID:23430444	PMID:23435956	PMID:23451157	PMID:23464463	PMID:23464469	PMID:23464476	PMID:23479135	PMID:23479765	PMID:23496911
PMID:23499241	PMID:23534722	PMID:23543084	PMID:23546985	PMID:23552977	PMID:23553206	PMID:23618615	PMID:23636799	PMID:23653378	PMID:23662987	PMID:23669291	PMID:23673479
PMID:23679314	PMID:23681796	PMID:23684781	PMID:23700156	PMID:23704969	PMID:23708312	PMID:23712607	PMID:23712778	PMID:23717668	PMID:23733202	PMID:23740134	PMID:23774147
PMID:23807675	PMID:23857281	PMID:23868975	PMID:23872202	PMID:23884604	PMID:23886187	PMID:23892592	PMID:23910235	PMID:23918303	PMID:23919819	PMID:23943371	PMID:23959014
PMID:23990873	PMID:23996617	PMID:24020925	PMID:24039945	PMID:24048757	PMID:24052436	PMID:24053728	PMID:24057881	PMID:24096581	PMID:24157118	PMID:24175795	PMID:24175813
PMID:24175846	PMID:24176953	PMID:24194393	PMID:24205020	PMID:24205095	PMID:24224851	PMID:24258108	PMID:24277466	PMID:24289575	PMID:24289608	PMID:24292625	PMID:24292986
PMID:24332808	PMID:24363792	PMID:24375631	PMID:24377576	PMID:24377605	PMID:24390232	PMID:24402573	PMID:24409475	PMID:24410901	PMID:24414482	PMID:24457600	PMID:24465544
PMID:24470137	PMID:24477575	PMID:24488411	PMID:24489692	PMID:24492938	PMID:24497981	PMID:24511730	PMID:24525731	PMID:24535457	PMID:24577548	PMID:24590265	PMID:24590266
PMID:24606430	PMID:24615029	PMID:24619222	PMID:24634242	PMID:24642895	PMID:24694255	PMID:24711643	PMID:24716924	PMID:24737519	PMID:24761895	PMID:24778456	PMID:24779987
PMID:24815482	PMID:24906341	PMID:24922669	PMID:24938464	PMID:24938468	PMID:24955348	PMID:24958516	PMID:24969866	PMID:24971336	PMID:24981860	PMID:25018058	PMID:25025378
PMID:25036351	PMID:25062722	PMID:25064613	PMID:25086624	PMID:25138303	PMID:25146668	PMID:25211472	PMID:25227852	PMID:25245010	PMID:25262700	PMID:25279712	PMID:25281560
PMID:25285569	PMID:25310768	PMID:25335737	PMID:25335960	PMID:25340946	PMID:25375625	PMID:25387884	PMID:25423885	PMID:25433331	PMID:25445285	PMID:25456813	PMID:25474887
PMID:25476899	PMID:25501209	PMID:25501234	PMID:25537147	PMID:25544563	PMID:25563194	PMID:25582318	PMID:25592768	PMID:25596702	PMID:25609649	PMID:25616696	PMID:25619474
PMID:25662161	PMID:25665578	PMID:25684477	PMID:25684513	PMID:25690281	PMID:25690738	PMID:25715450	PMID:25731027	PMID:25731970	PMID:25733688	PMID:25811296	PMID:25812040
PMID:25845234	PMID:25873778	PMID:25921133	PMID:25921289	PMID:25927275	PMID:25938407	PMID:25961110	PMID:25987675	PMID:25998844	PMID:26001739	PMID:26011347	PMID:26045834
PMID:26046675	PMID:26056729	PMID:26072091	PMID:26088318	PMID:26097600	PMID:26124010	PMID:26125922	PMID:26186194	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:30551406	PMID:30554943	PMID:30572598	PMID:30585729	PMID:30616520	PMID:30650352	PMID:30686591	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:32707033	PMID:32711416	PMID:32711417	PMID:32711433	PMID:32719266	PMID:32767921	PMID:32780723	PMID:32916236	PMID:33053171	PMID:33087283	PMID:33111431	PMID:33150172
PMID:33330937	PMID:33355950	PMID:33394233	PMID:33631241	PMID:33637726	PMID:33644029	PMID:33647453	PMID:33719846	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:34672954	PMID:34709727	PMID:34732716	PMID:34789190	PMID:34811483	PMID:34918657	PMID:35055077	PMID:35140242	PMID:35164849	PMID:35191782	PMID:35253629
PMID:35271311	PMID:35319340	PMID:35457130	PMID:35705029	PMID:35770680	PMID:35816185	PMID:35831314	PMID:35944360	PMID:36089195	PMID:36114006	PMID:36129980	PMID:36195778
PMID:36196709	PMID:36215168	PMID:36373674	PMID:36543142	PMID:36573562	PMID:36574265	PMID:36634849	PMID:36853312	PMID:37247289	PMID:37522793	PMID:37678329	PMID:37689310
PMID:37774058	PMID:37787291	PMID:37827155	PMID:37829155	PMID:37898859	PMID:38028855	PMID:38217545	PMID:38337001

Genomics

Comparative Map Data

XRCC1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	43,543,311 - 43,575,527 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	43,543,311 - 43,580,473 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	44,047,463 - 44,079,679 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	48,739,304 - 48,771,555 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	48,739,303 - 48,771,555	NCBI
Celera	19	40,850,091 - 40,882,209 (-)	NCBI		Celera
Cytogenetic Map	19	q13.31	NCBI
HuRef	19	40,478,136 - 40,510,489 (-)	NCBI		HuRef
CHM1_1	19	44,049,115 - 44,081,452 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	46,364,840 - 46,397,157 (-)	NCBI		T2T-CHM13v2.0

Xrcc1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	24,246,124 - 24,272,863 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	24,245,714 - 24,272,865 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	24,546,699 - 24,573,438 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	24,546,289 - 24,573,440 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	25,332,169 - 25,358,457 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	24,255,049 - 24,282,192 (+)	NCBI		MGSCv36	mm8
Celera	7	19,161,255 - 19,187,540 (+)	NCBI		Celera
Cytogenetic Map	7	A3	NCBI
cM Map	7	11.42	NCBI

Xrcc1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	89,268,721 - 89,296,619 (+)	NCBI		GRCr8
mRatBN7.2	1	80,140,495 - 80,168,705 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	80,141,207 - 80,168,701 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	85,534,876 - 85,562,653 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	94,084,721 - 94,112,152 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	87,290,702 - 87,318,402 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	81,412,635 - 81,441,680 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	81,413,353 - 81,441,678 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	82,673,571 - 82,701,082 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	79,834,167 - 79,860,300 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	79,912,277 - 79,938,411 (+)	NCBI
Celera	1	74,594,313 - 74,621,523 (+)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Xrcc1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955555	1,293,416 - 1,315,839 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955555	1,293,416 - 1,315,839 (-)	NCBI	ChiLan1.0	ChiLan1.0

XRCC1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	49,702,261 - 49,739,417 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	51,570,527 - 51,608,367 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	40,485,052 - 40,522,188 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	49,093,928 - 49,125,723 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	49,094,014 - 49,125,520 (-)	Ensembl	panpan1.1		panPan2

XRCC1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	111,548,719 - 111,571,816 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	111,548,719 - 111,571,816 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	111,028,445 - 111,051,541 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	112,158,850 - 112,181,954 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	112,158,850 - 112,181,954 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	111,746,938 - 111,770,215 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	111,380,774 - 111,403,889 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	112,265,054 - 112,288,168 (+)	NCBI		UU_Cfam_GSD_1.0

Xrcc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	16,407,084 - 16,436,413 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936706	751,108 - 783,777 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936706	752,571 - 783,746 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

XRCC1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	50,403,689 - 50,425,729 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	50,403,691 - 50,425,730 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	46,158,742 - 46,180,744 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

XRCC1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	37,062,149 - 37,095,138 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	37,060,439 - 37,095,094 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	16,603,474 - 16,637,686 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Xrcc1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624907	1,087,611 - 1,113,266 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624907	1,087,611 - 1,113,275 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in XRCC1
65 total Variants

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]\|Spinocerebellar ataxia, autosomal recessive 26 [RCV002243894]\|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
NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)	single nucleotide variant	Spinocerebellar ataxia, autosomal recessive 26 [RCV003316896]	Chr19:43552084 [GRCh38] Chr19:44056236 [GRCh37] Chr19:19q13.31	likely 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	XRCC1-related condition [RCV003930599]\|not provided [RCV000883539]	Chr19:43560950 [GRCh38] Chr19:44065102 [GRCh37] Chr19:19q13.31	benign\|likely 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	XRCC1-related condition [RCV003958240]\|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\|likely 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	XRCC1-related condition [RCV003915957]\|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\|likely benign
NM_006297.3(XRCC1):c.483G>A (p.Pro161=)	single nucleotide variant	XRCC1-related condition [RCV003923184]\|not provided [RCV000912500]	Chr19:43553615 [GRCh38] Chr19:44057767 [GRCh37] Chr19:19q13.31	benign\|likely benign
GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3	copy number gain	not provided [RCV002472871]	Chr19:43084067..44096910 [GRCh37] Chr19:19q13.2-13.31	uncertain significance
NM_006297.3(XRCC1):c.1481+9G>A	single nucleotide variant	Spinocerebellar ataxia, autosomal recessive 26 [RCV002243358]\|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.1896A>G (p.Gln632=)	single nucleotide variant	Spinocerebellar ataxia, autosomal recessive 26 [RCV002245247]	Chr19:43543398 [GRCh38] Chr19:44047550 [GRCh37] Chr19:19q13.31	benign
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.618A>G (p.Pro206=)	single nucleotide variant	Spinocerebellar ataxia, autosomal recessive 26 [RCV002245248]	Chr19:43553075 [GRCh38] Chr19:44057227 [GRCh37] Chr19:19q13.31	benign
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
NC_000019.9:g.(?_44011002)_(45213778_?)dup	duplication	Ethylmalonic encephalopathy [RCV003116731]	Chr19:44011002..45213778 [GRCh37] Chr19:19q13.31-13.32	uncertain significance
NM_006297.3(XRCC1):c.1822C>T (p.Arg608Cys)	single nucleotide variant	Inborn genetic diseases [RCV003295780]	Chr19:43543472 [GRCh38] Chr19:44047624 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.382G>C (p.Val128Leu)	single nucleotide variant	Inborn genetic diseases [RCV003281621]	Chr19:43554678 [GRCh38] Chr19:44058830 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.298C>T (p.Arg100Cys)	single nucleotide variant	Inborn genetic diseases [RCV002992771]	Chr19:43554762 [GRCh38] Chr19:44058914 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.1790C>T (p.Ala597Val)	single nucleotide variant	Inborn genetic diseases [RCV002749975]	Chr19:43543504 [GRCh38] Chr19:44047656 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.422C>G (p.Pro141Arg)	single nucleotide variant	Inborn genetic diseases [RCV002907102]	Chr19:43553676 [GRCh38] Chr19:44057828 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.713C>T (p.Pro238Leu)	single nucleotide variant	Inborn genetic diseases [RCV002969483]	Chr19:43552907 [GRCh38] Chr19:44057059 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.1676G>A (p.Arg559Gln)	single nucleotide variant	not provided [RCV002511944]	Chr19:43544180 [GRCh38] Chr19:44048332 [GRCh37] Chr19:19q13.31	likely benign
NM_006297.3(XRCC1):c.1550G>C (p.Gly517Ala)	single nucleotide variant	Inborn genetic diseases [RCV002662158]	Chr19:43545889 [GRCh38] Chr19:44050041 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.1882G>A (p.Gly628Arg)	single nucleotide variant	Inborn genetic diseases [RCV002869304]	Chr19:43543412 [GRCh38] Chr19:44047564 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.1162G>A (p.Asp388Asn)	single nucleotide variant	Inborn genetic diseases [RCV002701582]	Chr19:43551608 [GRCh38] Chr19:44055760 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.913G>A (p.Glu305Lys)	single nucleotide variant	Inborn genetic diseases [RCV002641947]	Chr19:43552186 [GRCh38] Chr19:44056338 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.1729A>C (p.Met577Leu)	single nucleotide variant	Inborn genetic diseases [RCV002803770]	Chr19:43543671 [GRCh38] Chr19:44047823 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.284C>A (p.Ser95Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002678146]	Chr19:43554776 [GRCh38] Chr19:44058928 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.1657G>A (p.Glu553Lys)	single nucleotide variant	Inborn genetic diseases [RCV002656708]	Chr19:43544199 [GRCh38] Chr19:44048351 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.981G>C (p.Leu327=)	single nucleotide variant	not provided [RCV003222995]	Chr19:43552118 [GRCh38] Chr19:44056270 [GRCh37] Chr19:19q13.31	likely benign
NM_006297.3(XRCC1):c.1375G>A (p.Ala459Thr)	single nucleotide variant	not provided [RCV003222994]	Chr19:43546646 [GRCh38] Chr19:44050798 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.1733G>A (p.Ser578Asn)	single nucleotide variant	Inborn genetic diseases [RCV003204765]	Chr19:43543667 [GRCh38] Chr19:44047819 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.89dup (p.Tyr30Ter)	duplication	Spinocerebellar ataxia, autosomal recessive 26 [RCV003139380]	Chr19:43574964..43574965 [GRCh38] Chr19:44079116..44079117 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)	single nucleotide variant	Spinocerebellar ataxia, autosomal recessive 26 [RCV003139381]	Chr19:43554708 [GRCh38] Chr19:44058860 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.*13AC[17]	microsatellite	Laryngeal squamous cell carcinoma [RCV003329490]	Chr19:43543342..43543345 [GRCh38] Chr19:44047494..44047497 [GRCh37] Chr19:19q13.31	association
NM_006297.3(XRCC1):c.602-33C>T	single nucleotide variant	Laryngeal squamous cell carcinoma [RCV003329492]	Chr19:43553124 [GRCh38] Chr19:44057276 [GRCh37] Chr19:19q13.31	association
NM_006297.3(XRCC1):c.839G>A (p.Arg280His)	single nucleotide variant	Laryngeal squamous cell carcinoma [RCV003329491]	Chr19:43552260 [GRCh38] Chr19:44056412 [GRCh37] Chr19:19q13.31	association
NM_006297.3(XRCC1):c.*13AC[12]	microsatellite	Laryngeal squamous cell carcinoma [RCV003329489]	Chr19:43543342..43543355 [GRCh38] Chr19:44047494..44047507 [GRCh37] Chr19:19q13.31	association
NM_006297.3(XRCC1):c.1310C>T (p.Thr437Ile)	single nucleotide variant	Inborn genetic diseases [RCV003367345]	Chr19:43546711 [GRCh38] Chr19:44050863 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.1582C>A (p.His528Asn)	single nucleotide variant	Inborn genetic diseases [RCV003368958]	Chr19:43545857 [GRCh38] Chr19:44050009 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.286C>T (p.Pro96Ser)	single nucleotide variant	Inborn genetic diseases [RCV003364333]	Chr19:43554774 [GRCh38] Chr19:44058926 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.399C>T (p.Ser133=)	single nucleotide variant	not provided [RCV003407023]	Chr19:43554661 [GRCh38] Chr19:44058813 [GRCh37] Chr19:19q13.31	likely benign
NM_006297.3(XRCC1):c.880G>A (p.Ala294Thr)	single nucleotide variant	not provided [RCV003425245]	Chr19:43552219 [GRCh38] Chr19:44056371 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.667T>G (p.Ser223Ala)	single nucleotide variant	XRCC1-related condition [RCV003912186]	Chr19:43553026 [GRCh38] Chr19:44057178 [GRCh37] Chr19:19q13.31	likely benign
NM_006297.3(XRCC1):c.380G>A (p.Arg127Gln)	single nucleotide variant	not provided [RCV003884135]	Chr19:43554680 [GRCh38] Chr19:44058832 [GRCh37] Chr19:19q13.31	uncertain significance
NM_006297.3(XRCC1):c.-1C>T	single nucleotide variant	XRCC1-related condition [RCV003977400]	Chr19:43575459 [GRCh38] Chr19:44079611 [GRCh37] Chr19:19q13.31	benign
NM_006297.3(XRCC1):c.1605A>G (p.Pro535=)	single nucleotide variant	XRCC1-related condition [RCV003924179]	Chr19:43545834 [GRCh38] Chr19:44049986 [GRCh37] Chr19:19q13.31	likely benign
NM_006297.3(XRCC1):c.925C>T (p.Pro309Ser)	single nucleotide variant	XRCC1-related condition [RCV003963945]	Chr19:43552174 [GRCh38] Chr19:44056326 [GRCh37] Chr19:19q13.31	likely benign
NM_006297.3(XRCC1):c.254A>G (p.Glu85Gly)	single nucleotide variant	not provided [RCV003884202]	Chr19:43560911 [GRCh38] Chr19:44065063 [GRCh37] Chr19:19q13.31	uncertain significance

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.

Markers in Region

D19S408

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,047,434 - 44,047,569	UniSTS	GRCh37
Build 36	19	48,739,274 - 48,739,409	RGD	NCBI36
Celera	19	40,850,061 - 40,850,196	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,478,106 - 40,478,239	UniSTS
Marshfield Genetic Map	19	67.37	UniSTS
Marshfield Genetic Map	19	67.37	RGD
Genethon Genetic Map	19	67.1	UniSTS
deCODE Assembly Map	19	69.79	UniSTS
Whitehead-RH Map	19	327.6	UniSTS
Whitehead-YAC Contig Map	19		UniSTS
NCBI RH Map	19	442.2	UniSTS

RH48808

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,049,986 - 44,050,226	UniSTS	GRCh37
Build 36	19	48,741,826 - 48,742,066	RGD	NCBI36
Celera	19	40,852,613 - 40,852,853	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,480,657 - 40,480,897	UniSTS
GeneMap99-GB4 RH Map	19	247.53	UniSTS

SHGC-2304

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,047,457 - 44,047,557	UniSTS	GRCh37
Build 36	19	48,739,297 - 48,739,397	RGD	NCBI36
Celera	19	40,850,084 - 40,850,184	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,478,129 - 40,478,227	UniSTS
TNG Radiation Hybrid Map	19	16272.0	UniSTS

G64200

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,079,260 - 44,079,660	UniSTS	GRCh37
Build 36	19	48,771,100 - 48,771,500	RGD	NCBI36
Celera	19	40,881,739 - 40,882,139	RGD
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,510,019 - 40,510,419	UniSTS

G64133

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,078,957 - 44,079,304	UniSTS	GRCh37
Build 36	19	48,770,797 - 48,771,144	RGD	NCBI36
Celera	19	40,881,436 - 40,881,783	RGD
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,509,716 - 40,510,063	UniSTS

G64148

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,055,652 - 44,056,123	UniSTS	GRCh37
Build 36	19	48,747,492 - 48,747,963	RGD	NCBI36
Celera	19	40,858,133 - 40,858,604	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,486,426 - 40,486,897	UniSTS

G64149

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,050,013 - 44,050,346	UniSTS	GRCh37
Build 36	19	48,741,853 - 48,742,186	RGD	NCBI36
Celera	19	40,852,640 - 40,852,973	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,480,684 - 40,481,017	UniSTS

G64150

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,049,829 - 44,050,110	UniSTS	GRCh37
Build 36	19	48,741,669 - 48,741,950	RGD	NCBI36
Celera	19	40,852,456 - 40,852,737	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,480,500 - 40,480,781	UniSTS

G64145

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,064,904 - 44,065,288	UniSTS	GRCh37
Build 36	19	48,756,744 - 48,757,128	RGD	NCBI36
Celera	19	40,867,383 - 40,867,767	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,495,677 - 40,496,061	UniSTS

G64146

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,058,700 - 44,059,131	UniSTS	GRCh37
Build 36	19	48,750,540 - 48,750,971	RGD	NCBI36
Celera	19	40,861,182 - 40,861,613	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,489,475 - 40,489,906	UniSTS

D10S2482

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,047,469 - 44,047,578	UniSTS	GRCh37
Build 36	19	48,739,309 - 48,739,418	RGD	NCBI36
Celera	19	40,850,096 - 40,850,205	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,478,141 - 40,478,248	UniSTS

RH17697

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,047,399 - 44,047,555	UniSTS	GRCh37
Build 36	19	48,739,239 - 48,739,395	RGD	NCBI36
Celera	19	40,850,026 - 40,850,182	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,478,071 - 40,478,225	UniSTS
GeneMap99-GB4 RH Map	19	247.53	UniSTS

SHGC-30018

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,047,473 - 44,047,622	UniSTS	GRCh37
Build 36	19	48,739,313 - 48,739,462	RGD	NCBI36
Celera	19	40,850,100 - 40,850,249	RGD
Cytogenetic Map	19	q13.2	UniSTS
HuRef	19	40,478,145 - 40,478,292	UniSTS
TNG Radiation Hybrid Map	19	16264.0	UniSTS
Stanford-G3 RH Map	19	2146.0	UniSTS
GeneMap99-GB4 RH Map	19	247.53	UniSTS
Whitehead-RH Map	19	324.0	UniSTS
NCBI RH Map	19	470.1	UniSTS
GeneMap99-G3 RH Map	19	2157.0	UniSTS

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

1177

2436

Low

764

342

324

159

322

354

733

712

352

Below cutoff

View RNA-SEQ Expression Data

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
	LC733525	(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

RefSeq Acc Id:

ENST00000262887 ⟹ ENSP00000262887

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,543,311 - 43,575,527 (-)	Ensembl

RefSeq Acc Id:

ENST00000543982 ⟹ ENSP00000443671

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,543,312 - 43,575,563 (-)	Ensembl

RefSeq Acc Id:

ENST00000594107 ⟹ ENSP00000471159

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,553,065 - 43,575,527 (-)	Ensembl

RefSeq Acc Id:

ENST00000594511

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,574,529 - 43,575,504 (-)	Ensembl

RefSeq Acc Id:

ENST00000595789

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,552,073 - 43,575,506 (-)	Ensembl

RefSeq Acc Id:

ENST00000597811 ⟹ ENSP00000470391

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,551,571 - 43,560,949 (-)	Ensembl

RefSeq Acc Id:

ENST00000598165 ⟹ ENSP00000470045

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,552,244 - 43,580,473 (-)	Ensembl

RefSeq Acc Id:

ENST00000598422

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,552,078 - 43,553,777 (-)	Ensembl

RefSeq Acc Id:

ENST00000599693 ⟹ ENSP00000472128

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,552,991 - 43,580,434 (-)	Ensembl

RefSeq Acc Id:

NM_006297 ⟹ NP_006288

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,543,311 - 43,575,527 (-)	NCBI
GRCh37	19	44,047,464 - 44,079,730 (-)	ENTREZGENE
Build 36	19	48,739,304 - 48,771,555 (-)	NCBI Archive
HuRef	19	40,478,136 - 40,510,489 (-)	ENTREZGENE
CHM1_1	19	44,049,115 - 44,081,452 (-)	NCBI
T2T-CHM13v2.0	19	46,364,840 - 46,397,157 (-)	NCBI

Sequence:

show sequence

ACTCTCCCTGCCCCTCGGACCCCATACTCTACCTCATCCTTCTGGCCAGGCGAAGCCCACGACG
TTGACATGCCGGAGATCCGCCTCCGCCATGTCGTGTCCTGCAGCAGCCAGGACTCGACTCACTG
TGCAGAAAATCTTCTCAAGGCAGACACTTACCGAAAATGGCGGGCAGCCAAGGCAGGCGAGAAG
ACCATCTCTGTGGTCCTACAGTTGGAGAAGGAGGAGCAGATACACAGTGTGGACATTGGGAATG
ATGGCTCAGCTTTCGTGGAGGTGCTGGTGGGCAGTTCAGCTGGAGGCGCTGGGGAGCAAGACTA
TGAGGTCCTTCTGGTCACCTCATCTTTCATGTCCCCTTCCGAGAGCCGCAGTGGCTCAAACCCC
AACCGCGTTCGCATGTTTGGGCCTGACAAGCTGGTCCGGGCAGCCGCCGAGAAGCGCTGGGACC
GGGTCAAAATTGTTTGCAGCCAGCCCTACAGCAAGGACTCCCCCTTTGGCTTGAGTTTTGTACG
GTTTCATAGCCCCCCAGACAAAGATGAGGCAGAGGCCCCGTCCCAGAAGGTGACAGTGACCAAG
CTTGGCCAGTTCCGTGTGAAGGAGGAGGATGAGAGCGCCAACTCTCTGAGGCCGGGGGCTCTCT
TCTTCAGCCGGATCAACAAGACATCCCCAGTCACAGCCAGCGACCCAGCAGGACCTAGCTATGC
AGCTGCTACCCTCCAGGCTTCTAGTGCTGCCTCCTCAGCCTCTCCAGTCTCCAGGGCCATAGGC
AGCACCTCCAAGCCCCAGGAGTCTCCCAAAGGGAAGAGGAAGTTGGATTTGAACCAAGAAGAAA
AGAAGACCCCCAGCAAACCACCAGCCCAGCTGTCGCCATCTGTTCCCAAGAGACCTAAATTGCC
AGCTCCAACTCGTACCCCAGCCACAGCCCCAGTCCCTGCCCGAGCACAGGGGGCAGTGACAGGC
AAACCCCGAGGAGAAGGCACCGAGCCCAGACGACCCCGAGCTGGCCCAGAGGAGCTGGGGAAGA
TCCTTCAGGGTGTGGTAGTGGTGCTGAGTGGCTTCCAGAACCCCTTCCGCTCCGAGCTGCGAGA
TAAGGCCCTAGAGCTTGGGGCCAAGTATCGGCCAGACTGGACCCGGGACAGCACGCACCTCATC
TGTGCCTTTGCCAACACCCCCAAGTACAGCCAGGTCCTAGGCCTGGGAGGCCGCATCGTGCGTA
AGGAGTGGGTGCTGGACTGTCACCGCATGCGTCGGCGGCTGCCCTCCCAGAGGTACCTCATGGC
AGGGCCAGGTTCCAGCAGTGAGGAGGATGAGGCCTCTCACAGCGGTGGCAGCGGAGATGAAGCC
CCCAAGCTTCCTCAGAAGCAACCCCAGACCAAAACCAAGCCCACTCAGGCAGCTGGACCCAGCT
CACCCCAGAAGCCCCCAACCCCTGAAGAGACCAAAGCAGCCTCACCAGTGCTCCAGGAAGATAT
AGACATTGAGGGGGTACAGTCAGAAGGACAGGACAATGGGGCGGAAGATTCTGGGGACACAGAG
GATGAGCTGAGGAGGGTGGCAGAGCAGAAGGAACACAGACTGCCCCCTGGCCAGGAGGAGAATG
GGGAAGACCCGTATGCAGGCTCCACGGATGAGAACACGGACAGTGAGGAACACCAGGAGCCTCC
TGATCTGCCAGTCCCTGAGCTCCCAGATTTCTTCCAGGGCAAGCACTTCTTTCTTTACGGGGAG
TTCCCTGGGGACGAGCGGCGGAAACTCATCCGATACGTCACAGCCTTCAATGGGGAGCTCGAGG
ACTATATGAGTGACCGGGTTCAGTTTGTGATCACAGCACAGGAATGGGATCCCAGCTTTGAGGA
GGCCCTGATGGACAACCCCTCCCTGGCATTCGTTCGTCCCCGATGGATCTACAGTTGCAATGAG
AAGCAGAAGTTACTTCCTCACCAGCTCTATGGGGTGGTGCCGCAAGCCTGAAGTATGTGCTATA
CACACACACACACACACACACACACACACACACACACGATGCATTTAATAAAGATGAGTTGGTT
CTCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_006288	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA63270	(Get FASTA)	NCBI Sequence Viewer
	AAG09061	(Get FASTA)	NCBI Sequence Viewer
	AAH23593	(Get FASTA)	NCBI Sequence Viewer
	AAM34791	(Get FASTA)	NCBI Sequence Viewer
	AGB76026	(Get FASTA)	NCBI Sequence Viewer
	AGI15891	(Get FASTA)	NCBI Sequence Viewer
	AGI15892	(Get FASTA)	NCBI Sequence Viewer
	AGI15893	(Get FASTA)	NCBI Sequence Viewer
	AHC92541	(Get FASTA)	NCBI Sequence Viewer
	BAD92018	(Get FASTA)	NCBI Sequence Viewer
	BAG37732	(Get FASTA)	NCBI Sequence Viewer
	BAG57023	(Get FASTA)	NCBI Sequence Viewer
	BAG61945	(Get FASTA)	NCBI Sequence Viewer
	BDT26526	(Get FASTA)	NCBI Sequence Viewer
	CAG33009	(Get FASTA)	NCBI Sequence Viewer
	EAW57201	(Get FASTA)	NCBI Sequence Viewer
	EAW57202	(Get FASTA)	NCBI Sequence Viewer
	EAW57203	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000262887
	ENSP00000262887.5
	ENSP00000443671.1
	ENSP00000470045.1
	ENSP00000470391.1
	ENSP00000471159.1
	ENSP00000472128.1
GenBank Protein	P18887	(Get FASTA)	NCBI Sequence Viewer
	UDL17970	(Get FASTA)	NCBI Sequence Viewer
	UDL17971	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_006288 ⟸ NM_006297

- UniProtKB:

Q6IBS4 (UniProtKB/Swiss-Prot), Q9HCB1 (UniProtKB/Swiss-Prot), P18887 (UniProtKB/Swiss-Prot), B2RCY5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MPEIRLRHVVSCSSQDSTHCAENLLKADTYRKWRAAKAGEKTISVVLQLEKEEQIHSVDIGNDG
SAFVEVLVGSSAGGAGEQDYEVLLVTSSFMSPSESRSGSNPNRVRMFGPDKLVRAAAEKRWDRV
KIVCSQPYSKDSPFGLSFVRFHSPPDKDEAEAPSQKVTVTKLGQFRVKEEDESANSLRPGALFF
SRINKTSPVTASDPAGPSYAAATLQASSAASSASPVSRAIGSTSKPQESPKGKRKLDLNQEEKK
TPSKPPAQLSPSVPKRPKLPAPTRTPATAPVPARAQGAVTGKPRGEGTEPRRPRAGPEELGKIL
QGVVVVLSGFQNPFRSELRDKALELGAKYRPDWTRDSTHLICAFANTPKYSQVLGLGGRIVRKE
WVLDCHRMRRRLPSQRYLMAGPGSSSEEDEASHSGGSGDEAPKLPQKQPQTKTKPTQAAGPSSP
QKPPTPEETKAASPVLQEDIDIEGVQSEGQDNGAEDSGDTEDELRRVAEQKEHRLPPGQEENGE
DPYAGSTDENTDSEEHQEPPDLPVPELPDFFQGKHFFLYGEFPGDERRKLIRYVTAFNGELEDY
MSDRVQFVITAQEWDPSFEEALMDNPSLAFVRPRWIYSCNEKQKLLPHQLYGVVPQA

hide 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 DNA-repair protein Xrcc1 N-terminal

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 Assembly	Chr	Position (strand)	Source
GRCh38	19	43,575,527 - 43,575,587	EPDNEW

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 Assembly	Chr	Position (strand)	Source
GRCh38	19	43,580,497 - 43,580,557	EPDNEW

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 Assembly	Chr	Position (strand)	Source
Build 36	19	48,771,311 - 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.

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:12828	AgrOrtholog
COSMIC	XRCC1	COSMIC
Ensembl Genes	ENSG00000073050	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000262887	ENTREZGENE
	ENST00000262887.10	UniProtKB/Swiss-Prot
	ENST00000543982.5	UniProtKB/TrEMBL
	ENST00000594107.1	UniProtKB/TrEMBL
	ENST00000597811.5	UniProtKB/TrEMBL
	ENST00000598165.5	UniProtKB/TrEMBL
	ENST00000599693.5	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.10190	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Galactose-binding domain-like	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
PANTHER	DNA REPAIR PROTEIN XRCC1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DNA-REPAIR PROTEIN XRCC1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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	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_HUMAN	UniProtKB/TrEMBL
	Q6IBS4	ENTREZGENE
	Q9HCB1	ENTREZGENE
	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	XRCC1	X-ray repair complementing defective repair in Chinese hamster cells 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - GAD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - GAD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar