chr5:177086905:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr5:176,513,906-176,525,145 
hg38 chr5:177,086,905-177,098,144

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
0.006 squamous cell carcinoma NA BeFree,GAD Detail
<0.001 chordoma NA BeFree Detail
0.006 Colonic Neoplasms NA BeFree,LHGDN Detail
0.003 colorectal carcinoma NA BeFree Detail
0.001 Coronary Arteriosclerosis NA BeFree Detail
0.001 Coronary heart disease NA BeFree Detail
0.120 adenoid cystic carcinoma NA CTD_human Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 diarrhea NA BeFree Detail
<0.001 Gastrointestinal Neoplasms NA BeFree Detail
<0.001 glioblastoma NA BeFree Detail
0.003 Head and Neck Neoplasms NA LHGDN Detail
<0.001 hepatitis B NA BeFree Detail
<0.001 HIV Infections NA BeFree Detail
<0.001 hypercalcemia NA BeFree Detail
0.002 Immediate hypersensitivity NA GAD Detail
<0.001 Hypertensive disease NA BeFree Detail
<0.001 pulmonary hypertension In the present study, we demonstrated that proline-rich tyrosine kinase 2 (Pyk2)... BeFree 25659487 Detail
<0.001 influenza Our results showed that FGFR1 silencing by siRNA interference promoted influenza... BeFree 25909503 Detail
0.003 irritable bowel syndrome NA BeFree,GAD Detail
0.002 leukemia NA BeFree Detail
0.001 chronic lymphocytic leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
0.002 Leukemia, Myelocytic, Acute NA BeFree Detail
0.003 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 Leukemia, Myeloid, Chronic-Phase NA BeFree Detail
<0.001 liver cirrhosis NA BeFree Detail
0.003 Liver neoplasms Accordingly, blockade of FGFR4-mediated signalling by soluble dominant-negative ... BeFree,GAD 25031272 Detail
0.003 Lung Neoplasms NA BeFree,LHGDN Detail
<0.001 lymphoma NA BeFree Detail
0.002 Malignant neoplasm of stomach NA BeFree Detail
0.007 melanoma NA BeFree,GAD Detail
<0.001 meningioma NA BeFree Detail
0.002 Mouth Neoplasms NA GAD Detail
<0.001 multiple myeloma NA BeFree Detail
0.005 Neoplasm Metastasis Focal adhesion Kinase (FAK) is a nonreceptor protein tyrosine kinase that is ove... BeFree 25326692 Detail
<0.001 neuroblastoma NA BeFree Detail
<0.001 obesity NA BeFree Detail
<0.001 Degenerative polyarthritis NA BeFree Detail
<0.001 osteopetrosis NA BeFree Detail
<0.001 osteosarcoma NA BeFree Detail
<0.001 ovarian carcinoma NA BeFree Detail
<0.001 Ovarian Diseases NA BeFree Detail
0.120 Peripheral neuropathy NA CTD_human Detail
<0.001 pituitary adenoma NA BeFree Detail
<0.001 Pituitary Diseases NA BeFree Detail
0.006 Pituitary Neoplasms NA BeFree,GAD,LHGDN Detail
<0.001 polyps NA BeFree Detail
<0.001 Precancerous Conditions NA BeFree Detail
0.128 Prostatic Neoplasms NA CTD_human,LHGDN Detail
0.001 rhabdomyosarcoma NA BeFree Detail
<0.001 systemic scleroderma NA BeFree Detail
0.002 Skin Neoplasms NA GAD Detail
0.003 Thyroid Neoplasm NA LHGDN Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
<0.001 peripheral T-cell lymphoma NA BeFree Detail
<0.001 severe combined immunodeficiency FGFR4 overexpression in non-tumourigenic hepatocarcinoma cells significantly red... BeFree 25031272 Detail
0.002 Bronchial Hyperreactivity NA GAD Detail
<0.001 Cutaneous Melanoma NA BeFree Detail
0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 Secondary malignant neoplasm of lung NA BeFree Detail
<0.001 Sotos' syndrome NA BeFree Detail
<0.001 Williams syndrome NA BeFree Detail
0.002 Tumor Progression NA BeFree Detail
<0.001 Ki-1+ Anaplastic Large Cell Lymphoma NA BeFree Detail
<0.001 Fibroadenoma NA BeFree Detail
<0.001 alveolar rhabdomyosarcoma NA BeFree Detail
<0.001 Rhabdomyosarcoma, Embryonal Preclinical studies have demonstrated that resistance to FGFR inhibitors can be ... BeFree 25349422 Detail
<0.001 embryonal carcinoma NA BeFree Detail
<0.001 Neuroectodermal Tumor, Primitive NA BeFree Detail
<0.001 X-linked agammaglobulinemia NA BeFree Detail
0.002 pituitary-dependent Cushing's disease NA GAD Detail
<0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Gastrointestinal Stromal Tumors NA BeFree Detail
0.011 Malignant neoplasm of lung Using Fgfr4 single nucleotide polymorphism knock-in mice and transgenic mouse mo... BeFree,GAD 26675719 Detail
<0.001 Mandibulofacial Dysostosis NA BeFree Detail
<0.001 Hypercalcemia, Idiopathic, of Infancy NA BeFree Detail
<0.001 Breast cancer recurrent NA BeFree Detail
0.005 Cancer of Head and Neck NA BeFree,GAD Detail
0.002 Malignant Bone Neoplasm NA GAD Detail
<0.001 Adenocarcinoma Of Esophagus NA BeFree Detail
0.002 Solid tumour NA BeFree Detail
<0.001 gliomatosis cerebri NA BeFree Detail
<0.001 anaplastic astrocytoma NA BeFree Detail
<0.001 Chronic liver disease NA BeFree Detail
<0.001 Growth Hormone-Secreting Pituitary Adenoma NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
0.013 Malignant neoplasm of prostate NA BeFree,GAD Detail
<0.001 thrombophilia NA BeFree Detail
<0.001 Idiopathic osteoarthritis NA BeFree Detail
<0.001 Ichthyosis bullosa of Siemens NA BeFree Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Secondary malignant neoplasm of liver NA BeFree Detail
<0.001 Neurodegenerative Disorders NA BeFree Detail
<0.001 Thyroid carcinoma NA BeFree Detail
<0.001 Oropharynx (excludes nasopharynx) NA BeFree Detail
<0.001 Oropharyngeal disorders NA BeFree Detail
<0.001 Malignant glioma NA BeFree Detail
<0.001 Squamous cell carcinoma of mouth NA BeFree Detail
0.004 Carcinogenesis NA BeFree Detail
<0.001 Leukemogenesis NA BeFree Detail
<0.001 Myeloproliferative disease Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better... BeFree 25012914 Detail
0.004 prostate carcinoma NA BeFree Detail
<0.001 Epithelial ovarian cancer NA BeFree Detail
0.008 breast carcinoma Preclinical studies have demonstrated that resistance to FGFR inhibitors can be ... BeFree 25349422 Detail
<0.001 Chronic myeloproliferative disorder Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better... BeFree 25012914 Detail
0.002 Carcinoma of lung Using Fgfr4 single nucleotide polymorphism knock-in mice and transgenic mouse mo... BeFree 26675719 Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
0.002 colon carcinoma The administration of FGF-1/-3-neutralizing antibodies or the treatment of cells... BeFree 26183471 Detail
0.002 stomach carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Central neuroblastoma NA BeFree Detail
<0.001 Adenoviral infections For downmodulation of endogenous FGFR4, we used small interfering RNA or adenovi... BeFree 25031272 Detail
<0.001 Intraepithelial Neoplasia NA BeFree Detail
<0.001 ovarian neoplasm NA BeFree Detail
<0.001 Ischemic stroke NA BeFree Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
0.002 Squamous cell carcinoma of the head and neck NA BeFree Detail
0.004 sarcoma NA BeFree,GAD Detail
<0.001 Precursor B-cell lymphoblastic leukemia NA BeFree Detail
<0.001 Pancreatic intraepithelial neoplasia NA BeFree Detail
0.002 ACTH-secreting pituitary adenoma NA GAD Detail
<0.001 Monoblastic leukemia NA BeFree Detail
<0.001 Stage IV Skin Melanoma NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma NA BeFree Detail
<0.001 Well Differentiated Pancreatic Endocrine Tumor NA BeFree Detail
<0.001 renal carcinoma NA BeFree Detail
<0.001 Generalized osteoarthritis NA BeFree Detail
0.012 Mammary Neoplasms NA BeFree,LHGDN Detail
<0.001 Hepatocarcinogenesis NA BeFree Detail
<0.001 Cancer Cell Growth We observed that CAFs secrete more FGF-1/-3 than NFs and PFs and promote cancer ... BeFree 26183471 Detail
0.005 colorectal cancer NA BeFree,GAD Detail
<0.001 Glioblastoma multiforme NA BeFree Detail
<0.001 Benign Prostatic Hyperplasia NA BeFree Detail
<0.001 Meningioma, benign, no ICD-O subtype NA BeFree Detail
0.001 coronary artery disease NA BeFree Detail
<0.001 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree Detail
0.009 liver carcinoma Fibroblast growth factor receptor 4: a putative key driver for the aggressive ph... BeFree,GAD,LHGDN 25031272 Detail
0.009 liver carcinoma FGF19 is overexpressed in a significant proportion of human hepatocellular carci... BeFree,GAD,LHGDN 25346390 Detail
0.003 Prostatic Hyperplasia NA LHGDN Detail
<0.001 Experimental Organism Basal Cell Carcinoma NA BeFree Detail
0.002 Cancer progression and tumor cell motility NA GAD Detail
<0.001 adenocarcinoma NA BeFree Detail
<0.001 adenoma NA BeFree Detail
<0.001 Alcoholic Intoxication, Chronic NA BeFree Detail
<0.001 Astrocytoma NA BeFree Detail
<0.001 Malignant neoplasm of urinary bladder NA BeFree Detail
0.020 Malignant neoplasm of breast Preclinical studies have demonstrated that resistance to FGFR inhibitors can be ... BeFree,GAD 25349422 Detail
0.002 Malignant tumor of colon The administration of FGF-1/-3-neutralizing antibodies or the treatment of cells... BeFree 26183471 Detail
<0.001 Malignant neoplasm of skin NA BeFree Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
0.002 basal cell carcinoma NA GAD Detail
0.002 Non-small cell lung carcinoma In this report, we examined the effect of functional polymorphisms in MMP-1, MMP... BeFree 25975224 Detail
<0.001 renal cell carcinoma NA BeFree Detail
Annotation

Annotations

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In the present study, we demonstrated that proline-rich tyrosine kinase 2 (Pyk2), a nonreceptor type... DisGeNET Detail
Our results showed that FGFR1 silencing by siRNA interference promoted influenza A/PR8 and H5N1 viru... DisGeNET Detail
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Accordingly, blockade of FGFR4-mediated signalling by soluble dominant-negative constructs, like sol... DisGeNET Detail
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Focal adhesion Kinase (FAK) is a nonreceptor protein tyrosine kinase that is overexpressed in tumors... DisGeNET Detail
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FGFR4 overexpression in non-tumourigenic hepatocarcinoma cells significantly reduced cell-matrix adh... DisGeNET Detail
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Preclinical studies have demonstrated that resistance to FGFR inhibitors can be acquired through mut... DisGeNET Detail
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Using Fgfr4 single nucleotide polymorphism knock-in mice and transgenic mouse models for breast and ... DisGeNET Detail
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Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of th... DisGeNET Detail
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Preclinical studies have demonstrated that resistance to FGFR inhibitors can be acquired through mut... DisGeNET Detail
Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of th... DisGeNET Detail
Using Fgfr4 single nucleotide polymorphism knock-in mice and transgenic mouse models for breast and ... DisGeNET Detail
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The administration of FGF-1/-3-neutralizing antibodies or the treatment of cells with FGFR4 siRNA or... DisGeNET Detail
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For downmodulation of endogenous FGFR4, we used small interfering RNA or adenoviral infection with d... DisGeNET Detail
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We observed that CAFs secrete more FGF-1/-3 than NFs and PFs and promote cancer cell growth and angi... DisGeNET Detail
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Fibroblast growth factor receptor 4: a putative key driver for the aggressive phenotype of hepatocel... DisGeNET Detail
FGF19 is overexpressed in a significant proportion of human hepatocellular carcinomas (HCC), and act... DisGeNET Detail
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Preclinical studies have demonstrated that resistance to FGFR inhibitors can be acquired through mut... DisGeNET Detail
The administration of FGF-1/-3-neutralizing antibodies or the treatment of cells with FGFR4 siRNA or... DisGeNET Detail
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In this report, we examined the effect of functional polymorphisms in MMP-1, MMP-2, MMP-3, VEGF, VEG... DisGeNET Detail
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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
rs386626619 dbSNP
Genome
hg38
Position
chr5:177,086,905-177,098,144
Variant Type
snv
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