chr14:20923350:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr14:20,923,350-20,925,931
hg38 chr14:20,455,191-20,457,772 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 squamous cell carcinoma NA BeFree Detail
0.080 brain ischemia NA RGD Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
0.005 Uterine Cervical Neoplasm NA GAD,LHGDN Detail
<0.001 Primary biliary cirrhosis NA BeFree Detail
0.002 Chromosome Aberrations NA GAD Detail
0.003 Cockayne syndrome NA LHGDN Detail
<0.001 ulcerative colitis NA BeFree Detail
0.008 Colorectal Neoplasms NA GAD,LHGDN Detail
<0.001 Coronary heart disease NA BeFree Detail
0.009 DNA Damage NA GAD Detail
<0.001 Muscular Dystrophy, Duchenne NA BeFree Detail
<0.001 Epilepsy, Temporal Lobe NA BeFree Detail
0.005 Esophageal Neoplasms NA BeFree,GAD Detail
<0.001 gastritis NA BeFree Detail
<0.001 glioblastoma APE1/REF-1 down-regulation enhances the cytotoxic effects of temozolomide in a r... BeFree 26520369 Detail
0.014 Glioma NA BeFree,GAD,LHGDN Detail
0.002 Graft-vs-Host Disease NA GAD Detail
0.002 Head and Neck Neoplasms NA GAD Detail
0.120 Heart Diseases NA CTD_human Detail
<0.001 HIV Infections NA BeFree Detail
<0.001 Hodgkin Disease NA BeFree Detail
<0.001 Huntington disease NA BeFree Detail
0.003 Hyperplasia NA LHGDN Detail
<0.001 Hypertensive disease NA BeFree Detail
<0.001 male infertility NA BeFree Detail
<0.001 keratosis NA BeFree Detail
0.003 Kidney Diseases We have reported a possible involvement of apurinic/apyrimidinic endonuclease 1 ... BeFree,GAD 25363496 Detail
0.002 Laryngeal neoplasm NA GAD Detail
<0.001 Fibroid Tumor NA BeFree Detail
<0.001 leiomyosarcoma NA BeFree Detail
<0.001 leptospirosis NA BeFree Detail
0.011 leukemia NA BeFree,GAD,LHGDN Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
0.002 myeloid leukemia NA GAD Detail
<0.001 Liver diseases NA BeFree Detail
0.080 Lung diseases NA RGD Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.011 Lung Neoplasms NA BeFree,LHGDN Detail
0.002 Lymphatic Metastasis NA GAD Detail
0.002 Lymphoma, Follicular NA GAD Detail
0.134 melanoma NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 Melanosis NA BeFree Detail
0.002 Meningeal Neoplasms NA GAD Detail
0.002 meningioma NA GAD Detail
<0.001 meningitis NA BeFree Detail
<0.001 aseptic meningitis NA BeFree Detail
0.002 Mouth Neoplasms NA GAD Detail
0.004 multiple myeloma NA BeFree,LHGDN Detail
0.002 multiple sclerosis NA GAD Detail
0.005 myocardial infarction NA BeFree,GAD,LHGDN Detail
0.080 Myocardial Reperfusion Injury NA RGD Detail
0.004 Neoplasm Metastasis NA BeFree,LHGDN Detail
0.002 Neural Tube Defects NA GAD Detail
0.002 acoustic neuroma NA GAD Detail
<0.001 osteoporosis NA BeFree Detail
0.005 osteosarcoma Apurinic/apyrimidinic endonuclease 1 regulates angiogenesis in a transforming gr... BeFree,LHGDN 26250694 Detail
0.001 ovarian carcinoma NA BeFree Detail
0.003 Pancreatic Neoplasm NA LHGDN Detail
0.002 Pharyngeal Neoplasms NA GAD Detail
<0.001 pneumonia NA BeFree Detail
0.002 Adenomatous Polyposis Coli NA GAD Detail
0.002 pre-eclampsia NA GAD Detail
0.002 Precancerous Conditions NA GAD Detail
0.120 Prostatic Neoplasms NA CTD_human Detail
0.003 pterygium NA BeFree,GAD Detail
0.080 Reperfusion Injury NA RGD Detail
<0.001 retinoblastoma NA BeFree Detail
0.200 Seizures NA CTD_human,RGD Detail
<0.001 seminoma NA BeFree Detail
<0.001 Age-related cataract The changes of 8-OHdG, hOGG1, APE1 and Pol β in lenses of patients with age-rela... BeFree 24911554 Detail
0.005 Skin Neoplasms NA GAD Detail
<0.001 hereditary spherocytosis NA BeFree Detail
0.080 status epilepticus NA RGD Detail
0.127 Stomach Neoplasms NA CTD_human,GAD Detail
0.008 Cerebrovascular accident NA BeFree,GAD,LHGDN Detail
0.005 Thyroid Neoplasm NA GAD,LHGDN Detail
<0.001 Trisomy NA BeFree Detail
<0.001 Uterine Fibroids NA BeFree Detail
<0.001 vitiligo NA BeFree Detail
0.002 Helicobacter Infections NA GAD Detail
0.002 diffuse large B-cell lymphoma NA GAD Detail
<0.001 Meningitis, Bacterial In recent papers published by our group, we described the associations between t... BeFree 26316174 Detail
<0.001 essential hypertension NA BeFree Detail
<0.001 cataract NA BeFree Detail
<0.001 Gastric adenoma NA BeFree Detail
<0.001 Migraine Disorders Our findings have suggested that APE1, XRCC3, XPD, and hOGG1 gene variants could... BeFree 24892639 Detail
<0.001 Cutaneous Melanoma NA BeFree Detail
0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 esophageal carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of testis NA BeFree Detail
<0.001 Smith-Lemli-Opitz syndrome NA BeFree Detail
<0.001 Germ cell tumor NA BeFree Detail
0.003 alveolar rhabdomyosarcoma NA BeFree,LHGDN Detail
0.003 Rhabdomyosarcoma, Embryonal NA LHGDN Detail
<0.001 smooth muscle tumor NA BeFree Detail
<0.001 Melanosis coli NA BeFree Detail
<0.001 Malignant neoplasm of female breast Germline variations of apurinic/apyrimidinic endonuclease 1 (APEX1) detected in ... BeFree 25292033 Detail
0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Pick Disease of the Brain NA BeFree Detail
0.049 Malignant neoplasm of lung Evaluating the association of polymorphisms in the HAP1 gene with lung cancer ri... BeFree,GAD 25081373 Detail
0.049 Malignant neoplasm of lung The interaction of APEX1 variant with polycyclic aromatic hydrocarbons on increa... BeFree,GAD 25156607 Detail
0.049 Malignant neoplasm of lung Development of APE1 enzymatic DNA repair assays: low APE1 activity is associated... BeFree,GAD 26045303 Detail
<0.001 Parkinsonian Disorders NA BeFree Detail
0.120 Disease Progression NA CTD_human Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D NA BeFree Detail
<0.001 gastric adenocarcinoma NA BeFree Detail
<0.001 Malignant Childhood Neoplasm NA BeFree Detail
<0.001 intraocular retinoblastoma NA BeFree Detail
<0.001 Liver and Intrahepatic Biliary Tract Carcinoma NA BeFree Detail
<0.001 Squamous cell carcinoma of esophagus NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
0.003 cervix carcinoma NA BeFree,GAD Detail
0.002 Arsenic Poisoning NA GAD Detail
<0.001 Teratoma, Malignant NA BeFree Detail
<0.001 frontotemporal dementia NA BeFree Detail
<0.001 Amnesia, Transient Global NA BeFree Detail
<0.001 Ocular albinism, type I NA BeFree Detail
<0.001 Malignant neoplasm of liver NA BeFree Detail
0.006 Malignant neoplasm of pancreas NA BeFree,GAD Detail
<0.001 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
0.002 Hematologic Neoplasms NA GAD Detail
<0.001 Familial aplasia of the vermis NA BeFree Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Overweight NA BeFree Detail
<0.001 Neurodegenerative Disorders NA BeFree Detail
<0.001 Environmental Carcinogenesis Human AP endonuclease 1: a potential marker for the prediction of environmental ... BeFree 25243052 Detail
<0.001 Malignant neoplasm of esophagus NA BeFree Detail
0.002 Osteosarcoma of bone Apurinic/apyrimidinic endonuclease 1 regulates angiogenesis in a transforming gr... BeFree 26250694 Detail
<0.001 Intraocular pressure disorder Gene-based analysis found suggestive associations between IOP and the genes HAP1... BeFree 25525164 Detail
0.003 Carcinogenesis In summary, our data show that patients with colorectal cancer present expressio... BeFree 25268610 Detail
0.002 subcutaneous fibrosis NA GAD Detail
<0.001 hyperhomocysteinemia NA BeFree Detail
0.002 Epithelial ovarian cancer NA GAD Detail
0.005 breast carcinoma In conclusion, our study demonstrates a significant association between germ lin... BeFree 25292033 Detail
0.005 breast carcinoma HAP1 gene expression is associated with radiosensitivity in breast cancer cells. BeFree 25446120 Detail
0.009 Carcinoma of lung Evaluating the association of polymorphisms in the HAP1 gene with lung cancer ri... BeFree 25081373 Detail
0.009 Carcinoma of lung The interaction of APEX1 variant with polycyclic aromatic hydrocarbons on increa... BeFree 25156607 Detail
0.009 Carcinoma of lung Development of APE1 enzymatic DNA repair assays: low APE1 activity is associated... BeFree 26045303 Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
0.002 Carcinoma of bladder NA BeFree Detail
<0.001 biliary tract cancer NA BeFree Detail
0.001 Helicobacter pylori infection NA BeFree Detail
<0.001 Testicular malignant germ cell tumor NA BeFree Detail
<0.001 Hyperkeratosis NA BeFree Detail
<0.001 Carcinoma, Pancreatic Ductal In recent years, Ref-1 has emerged as a promising therapeutic target in cancer, ... BeFree 25492865 Detail
0.003 ovarian neoplasm NA BeFree,LHGDN Detail
0.002 Papillomavirus Infections NA GAD Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 Adenoma of large intestine NA BeFree Detail
<0.001 Pediatric Intraocular Retinoblastoma NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma In particular, we focused on understanding the implications of the novel interac... BeFree 25492865 Detail
<0.001 differentiated thyroid gland carcinoma NA BeFree Detail
0.120 Micronuclei, Chromosome-Defective NA CTD_human Detail
0.008 Mammary Neoplasms NA LHGDN Detail
<0.001 Hepatocarcinogenesis NA BeFree Detail
<0.001 Tumor Angiogenesis It has been shown that apurinic/apyrimidinic endonuclease 1 (APE1), a dually fun... BeFree 26250694 Detail
<0.001 Tumor Promotion NA BeFree Detail
<0.001 Xenograft Model NA BeFree Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation NA BeFree Detail
<0.001 Hyperkeratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
<0.001 Melanosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) NA BeFree Detail
<0.001 keratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
<0.001 Amyotrophic Lateral Sclerosis, Sporadic NA BeFree Detail
<0.001 uterine corpus cancer NA BeFree Detail
0.002 Malignant neoplasm of stomach To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.125 liver carcinoma The role of APE/Ref-1 signaling pathway in hepatocellular carcinoma progression. BeFree,CTD_human,LHGDN 25109342 Detail
0.002 stomach carcinoma To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
<0.001 SPHEROCYTOSIS, TYPE 1 (disorder) NA BeFree Detail
0.028 Malignant neoplasm of urinary bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
0.080 Cerebral Hemorrhage NA RGD Detail
<0.001 Early-Stage Breast Carcinoma To test this hypothesis, we investigated 1406 ER(+) early-stage breast cancers w... BeFree 25111287 Detail
<0.001 Homocysteinemia NA BeFree Detail
0.004 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.003 Infection NA LHGDN Detail
<0.001 Melanosis coli Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
<0.001 Pneumonitis NA BeFree Detail
0.002 Carcinoma of bladder Using multifactor dimensionality reduction approach, the four-factor model, incl... BeFree 17220334 Detail
0.008 adenocarcinoma NA BeFree,GAD,LHGDN Detail
<0.001 adenoma NA BeFree Detail
<0.001 AIDS related complex To evaluate the changes of oxidative DNA damage (in the form of 8-OHdG) and thre... BeFree 24911554 Detail
0.003 Alzheimer's disease NA BeFree,GAD Detail
0.004 amyotrophic lateral sclerosis NA BeFree,LHGDN Detail
<0.001 arteriosclerosis NA BeFree Detail
<0.001 atherosclerosis NA BeFree Detail
0.049 Malignant neoplasm of lung In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... BeFree 17531525 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
0.009 Carcinoma of lung In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung can... BeFree 17531525 Detail
0.009 Carcinoma of lung These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms migh... BeFree 15044328 Detail
0.049 Malignant neoplasm of lung These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms migh... BeFree 15044328 Detail
0.002 Biliary Tract Neoplasm NA GAD Detail
0.028 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.005 Brain Neoplasms NA BeFree,GAD Detail
0.019 Malignant neoplasm of breast In conclusion, our study demonstrates a significant association between germ lin... BeFree,GAD 25292033 Detail
0.019 Malignant neoplasm of breast HAP1 gene expression is associated with radiosensitivity in breast cancer cells. BeFree,GAD 25446120 Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Malignant neoplasm of endometrium NA BeFree Detail
<0.001 female breast carcinoma Germline variations of apurinic/apyrimidinic endonuclease 1 (APEX1) detected in ... BeFree 25292033 Detail
0.004 Non-small cell lung carcinoma In addition, utilizing human non-small-cell lung cancer sample tissue as well as... BeFree 25452143 Detail
<0.001 renal cell carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
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APE1/REF-1 down-regulation enhances the cytotoxic effects of temozolomide in a resistant glioblastom... DisGeNET Detail
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We have reported a possible involvement of apurinic/apyrimidinic endonuclease 1 (APE1), one of the D... DisGeNET Detail
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Apurinic/apyrimidinic endonuclease 1 regulates angiogenesis in a transforming growth factor β-depend... DisGeNET Detail
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The changes of 8-OHdG, hOGG1, APE1 and Pol β in lenses of patients with age-related cataract. DisGeNET Detail
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In recent papers published by our group, we described the associations between the single nucleotide... DisGeNET Detail
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Our findings have suggested that APE1, XRCC3, XPD, and hOGG1 gene variants could facilitate the deve... DisGeNET Detail
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Germline variations of apurinic/apyrimidinic endonuclease 1 (APEX1) detected in female breast cancer... DisGeNET Detail
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Evaluating the association of polymorphisms in the HAP1 gene with lung cancer risk: a meta-analysis. DisGeNET Detail
The interaction of APEX1 variant with polycyclic aromatic hydrocarbons on increasing chromosome dama... DisGeNET Detail
Development of APE1 enzymatic DNA repair assays: low APE1 activity is associated with increase lung ... DisGeNET Detail
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Human AP endonuclease 1: a potential marker for the prediction of environmental carcinogenesis risk. DisGeNET Detail
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Apurinic/apyrimidinic endonuclease 1 regulates angiogenesis in a transforming growth factor β-depend... DisGeNET Detail
Gene-based analysis found suggestive associations between IOP and the genes HAP1, MTBP, FREM3, and P... DisGeNET Detail
In summary, our data show that patients with colorectal cancer present expression changes in several... DisGeNET Detail
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In conclusion, our study demonstrates a significant association between germ line APEX1 mutations an... DisGeNET Detail
HAP1 gene expression is associated with radiosensitivity in breast cancer cells. DisGeNET Detail
Evaluating the association of polymorphisms in the HAP1 gene with lung cancer risk: a meta-analysis. DisGeNET Detail
The interaction of APEX1 variant with polycyclic aromatic hydrocarbons on increasing chromosome dama... DisGeNET Detail
Development of APE1 enzymatic DNA repair assays: low APE1 activity is associated with increase lung ... DisGeNET Detail
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In recent years, Ref-1 has emerged as a promising therapeutic target in cancer, particularly in panc... DisGeNET Detail
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In particular, we focused on understanding the implications of the novel interaction between these t... DisGeNET Detail
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It has been shown that apurinic/apyrimidinic endonuclease 1 (APE1), a dually functional protein poss... DisGeNET Detail
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Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
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Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
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To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
The role of APE/Ref-1 signaling pathway in hepatocellular carcinoma progression. DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
NA DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
NA DisGeNET Detail
To test this hypothesis, we investigated 1406 ER(+) early-stage breast cancers with 20 years' long-t... DisGeNET Detail
NA DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
NA DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
NA DisGeNET Detail
Using multifactor dimensionality reduction approach, the four-factor model, including smoking status... DisGeNET Detail
NA DisGeNET Detail
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To evaluate the changes of oxidative DNA damage (in the form of 8-OHdG) and three key DNA base-excis... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative ... DisGeNET Detail
These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms might modify the risk of... DisGeNET Detail
These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms might modify the risk of... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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In conclusion, our study demonstrates a significant association between germ line APEX1 mutations an... DisGeNET Detail
HAP1 gene expression is associated with radiosensitivity in breast cancer cells. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Germline variations of apurinic/apyrimidinic endonuclease 1 (APEX1) detected in female breast cancer... DisGeNET Detail
In addition, utilizing human non-small-cell lung cancer sample tissue as well as a nude mouse xenogr... DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3136820 dbSNP
Genome
hg19
Position
chr14:20,923,350-20,925,931
Variant Type
snv
Genome browser