chr16:14013995:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:14,013,995-14,046,205 |
| hg38 | chr16:13,920,138-13,952,348 |
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 | Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of... | BeFree | 25455269 | Detail |
| 0.002 | Chromosome Aberrations | NA | GAD | Detail | |
| <0.001 | Cockayne syndrome | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | Association between ERCC1 and XPF polymorphisms and risk of colorectal cancer. | BeFree | 25730007 | Detail |
| 0.002 | Colorectal Neoplasms | NA | GAD | Detail | |
| 0.002 | Deafness | NA | GAD | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | NA | BeFree | Detail | |
| 0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | diabetic retinopathy | NA | BeFree | Detail | |
| 0.005 | DNA Damage | NA | GAD | Detail | |
| 0.003 | Esophageal Neoplasms | NA | BeFree,GAD | Detail | |
| 0.124 | Fanconi anemia | NA | BeFree,LHGDN,ORPHANET | Detail | |
| <0.001 | breast fibrocystic disease | NA | BeFree | Detail | |
| 0.003 | Glioma | NA | BeFree,GAD | Detail | |
| 0.005 | Head and Neck Neoplasms | NA | GAD | Detail | |
| 0.002 | Hearing Loss, Partial | NA | GAD | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... | BeFree | 25023197 | Detail |
| 0.003 | male infertility | NA | BeFree,GAD | Detail | |
| <0.001 | Kidney Diseases | NA | BeFree | Detail | |
| 0.005 | Laryngeal neoplasm | NA | GAD | Detail | |
| 0.002 | leukemia | NA | GAD | Detail | |
| 0.003 | chronic lymphocytic leukemia | NA | BeFree,GAD | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of... | BeFree | 25455269 | Detail |
| <0.001 | leukopenia | With respect to hematological and nonhematological toxicities, SNPs in drug tran... | BeFree | 25340731 | Detail |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.003 | Lung Neoplasms | NA | LHGDN | Detail | |
| 0.002 | Lymphoma, Follicular | NA | GAD | Detail | |
| 0.002 | Malignant neoplasm of stomach | Lack of association between XPF polymorphisms and gastric cancer risk: a meta-an... | BeFree | 25342505 | Detail |
| 0.008 | melanoma | NA | BeFree,GAD | Detail | |
| 0.002 | Meningeal Neoplasms | NA | GAD | Detail | |
| 0.003 | meningioma | NA | BeFree,GAD | Detail | |
| 0.002 | Mouth Neoplasms | NA | GAD | Detail | |
| 0.002 | multiple sclerosis | NA | GAD | Detail | |
| 0.120 | Neoplasm Metastasis | NA | CTD_human | Detail | |
| 0.120 | Neoplasms, Germ Cell and Embryonal | NA | CTD_human | Detail | |
| 0.002 | acoustic neuroma | NA | GAD | Detail | |
| <0.001 | Non-small cell lung carcinoma | The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280H... | BeFree | 11285194 | Detail |
| <0.001 | neutropenia | With respect to hematological and nonhematological toxicities, SNPs in drug tran... | BeFree | 25340731 | Detail |
| 0.003 | osteosarcoma | NA | BeFree,GAD | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.002 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.120 | Peripheral neuropathy | NA | CTD_human | Detail | |
| 0.002 | Pharyngeal Neoplasms | NA | GAD | Detail | |
| <0.001 | progeria | NA | BeFree | Detail | |
| 0.005 | Skin Neoplasms | NA | GAD | Detail | |
| 0.123 | Testicular Neoplasms | NA | CTD_human,LHGDN | Detail | |
| <0.001 | Werner syndrome | NA | BeFree | Detail | |
| 0.003 | xeroderma pigmentosum | NA | BeFree | Detail | |
| 0.002 | diffuse large B-cell lymphoma | NA | GAD | Detail | |
| 0.002 | conduct disorder | NA | GAD | Detail | |
| <0.001 | Sensory neuropathy | With respect to hematological and nonhematological toxicities, SNPs in drug tran... | BeFree | 25340731 | Detail |
| <0.001 | Cutaneous Melanoma | NA | BeFree | Detail | |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of mouth | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of oropharynx | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Xeroderma pigmentosum, group G | NA | BeFree | Detail | |
| <0.001 | Cancer of Head and Neck | DNA repair biomarkers XPF and phospho-MAPKAP kinase 2 correlate with clinical ou... | BeFree | 25019640 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
| <0.001 | Solid tumour | Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of... | BeFree | 25455269 | Detail |
| <0.001 | stage, ovarian epithelial cancer | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of oropharynx | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of pancreas | NA | BeFree | Detail | |
| 0.120 | Arsenic Poisoning | NA | CTD_human | Detail | |
| <0.001 | Breast Cancer, Familial | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.005 | Malignant neoplasm of prostate | NA | GAD | Detail | |
| 0.002 | endometrial carcinoma | NA | GAD | Detail | |
| <0.001 | Gastrostomy site | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Osteosarcoma of bone | NA | BeFree | Detail | |
| <0.001 | Carcinoma of larynx | NA | BeFree | Detail | |
| 0.001 | Carcinogenesis | Xeroderma pigmentosum complementation group F (XPF or ERCC4) plays a key role in... | BeFree | 25342505 | Detail |
| <0.001 | Hereditary Breast and Ovarian Cancer Syndrome | NA | BeFree | Detail | |
| 0.003 | Epithelial ovarian cancer | NA | BeFree,GAD | Detail | |
| 0.004 | breast carcinoma | NA | BeFree | Detail | |
| 0.002 | stomach carcinoma | Lack of association between XPF polymorphisms and gastric cancer risk: a meta-an... | BeFree | 25342505 | Detail |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| 0.120 | Cockayne Syndrome, Type I | NA | ORPHANET | Detail | |
| <0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| 0.002 | hearing impairment | NA | GAD | Detail | |
| 0.120 | Micronuclei, Chromosome-Defective | NA | CTD_human | Detail | |
| 0.011 | Mammary Neoplasms | NA | GAD,LHGDN | Detail | |
| 0.002 | Radiation Sickness | NA | GAD | Detail | |
| 0.006 | colorectal cancer | Association between ERCC1 and XPF polymorphisms and risk of colorectal cancer. | BeFree,GAD | 25730007 | Detail |
| <0.001 | Rash and Dermatitis Adverse Event Associated with Chemoradiation | We identified XPF and pMK2 as novel DNA-repair biomarkers for locoregionally-adv... | BeFree | 25019640 | Detail |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| 0.032 | Malignant neoplasm of breast | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... | BeFree | 20183911 | Detail |
| 0.004 | breast carcinoma | Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... | BeFree | 20183911 | Detail |
| <0.001 | Oropharyngeal Carcinoma | NA | BeFree | Detail | |
| 0.002 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1... | BeFree | 25023197 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | NA | BeFree | Detail | |
| 0.002 | Hearing Loss | NA | GAD | Detail | |
| 0.002 | adenocarcinoma | NA | GAD | Detail | |
| 0.002 | Alcoholic Intoxication, Chronic | NA | GAD | Detail | |
| 0.015 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.120 | Bladder Neoplasm | NA | CTD_human | Detail | |
| 0.002 | Bone neoplasms | NA | GAD | Detail | |
| 0.002 | Brain Neoplasms | NA | GAD | Detail | |
| 0.032 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.005 | Breast Diseases | NA | GAD,LHGDN | Detail | |
| <0.001 | Malignant neoplasm of larynx | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of ma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association between ERCC1 and XPF polymorphisms and risk of colorectal cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of ma... | DisGeNET | Detail |
| With respect to hematological and nonhematological toxicities, SNPs in drug transporters (ABCB1 and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lack of association between XPF polymorphisms and gastric cancer risk: a meta-analysis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), X... | DisGeNET | Detail |
| With respect to hematological and nonhematological toxicities, SNPs in drug transporters (ABCB1 and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| With respect to hematological and nonhematological toxicities, SNPs in drug transporters (ABCB1 and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| DNA repair biomarkers XPF and phospho-MAPKAP kinase 2 correlate with clinical outcome in advanced he... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of ma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Xeroderma pigmentosum complementation group F (XPF or ERCC4) plays a key role in DNA repair that pro... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lack of association between XPF polymorphisms and gastric cancer risk: a meta-analysis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association between ERCC1 and XPF polymorphisms and risk of colorectal cancer. | DisGeNET | Detail |
| We identified XPF and pMK2 as novel DNA-repair biomarkers for locoregionally-advanced HNC patients u... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... | DisGeNET | Detail |
| Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1800067>R415Q (rs1800... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs386493716 dbSNP
- Genome
- hg19
- Position
- chr16:14,013,995-14,046,205
- Variant Type
- snv
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