chr1:179293714:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr1:179,262,849-179,327,815 
hg38 chr1:179,293,714-179,358,680

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
0.003 renal cell carcinoma NA LHGDN Detail
<0.001 squamous cell carcinoma They also mimic human SCCs by activation of therapeutically relevant pathways in... BeFree 24953650 Detail
<0.001 Cardiovascular Diseases NA BeFree Detail
<0.001 cerebral infarction NA BeFree Detail
<0.001 Malignant tumor of cervix Cervical cancer is almost invariably associated with infection by human papillom... BeFree 25921106 Detail
<0.001 Crohn Disease NA BeFree Detail
<0.001 Delirium NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent We report four novel genes associated with type 2 diabetes and recovery upon wei... BeFree 25099943 Detail
<0.001 Down syndrome NA BeFree Detail
<0.001 Dry Eye Syndromes NA BeFree Detail
<0.001 Fanconi anemia NA BeFree Detail
<0.001 giardiasis NA BeFree Detail
<0.001 glioblastoma We, therefore, treated a panel of established glioma cell lines, including EGFR ... BeFree 25482928 Detail
0.002 Myeloproliferative disease As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive ... BeFree 18464114 Detail
<0.001 Hematological Disease NA BeFree Detail
<0.001 hepatitis C NA BeFree Detail
0.002 HIV Infections NA BeFree Detail
<0.001 Hodgkin Disease NA BeFree Detail
0.003 Hyperlipidemia NA BeFree,GAD Detail
<0.001 Immunologic Deficiency Syndromes Normal viral infection of the midgut requires bacterial flora and is inhibited b... BeFree 25548172 Detail
<0.001 Immune System Diseases NA BeFree Detail
<0.001 influenza NA BeFree Detail
<0.001 Kidney Diseases NA BeFree Detail
<0.001 leishmaniasis Whereas JAK-STAT and TGF-β signalling pathways were more highly enriched using t... BeFree 25376316 Detail
0.002 leukemia NA BeFree Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Cellular phosphoprotein analysis demonstrated that JAK-mutated xenografts exhibi... BeFree 25504635 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 These efforts have characterized the genetic basis of recently described and poo... BeFree 25696852 Detail
0.002 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 myeloid leukemia NA BeFree Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 chronic neutrophilic leukemia Laboratory studies revealed that CSF3RT618I induced JAK inhibitor-sensitive acti... BeFree 25575036 Detail
<0.001 acute promyelocytic leukemia NA BeFree Detail
<0.001 Leukemia, T-Cell NA BeFree Detail
0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
<0.001 Leukoencephalopathy, Progressive Multifocal NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
0.002 lymphoma NA BeFree Detail
<0.001 Lymphoma, Non-Hodgkin NA BeFree Detail
0.001 melanoma Here, we analyze the dysregulation of the Janus kinase (JAK)/STAT pathway and it... BeFree 25690042 Detail
<0.001 meningioma NA BeFree Detail
0.001 multiple myeloma NA BeFree Detail
<0.001 myelofibrosis Agents targeting the JAK-STAT pathway have dominated the investigational therape... BeFree 25189730 Detail
0.002 Myeloproliferative disease Furthermore, several classes of epigenetic modifiers have also been identified, ... BeFree 24445766 Detail
0.002 Myeloproliferative disease While JAK-STAT pathway activation has been shown to be central to the pathogenes... BeFree 25696868 Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
<0.001 nephroblastoma NA BeFree Detail
<0.001 plasmacytoma NA BeFree Detail
<0.001 polycythemia NA BeFree Detail
<0.001 polycythemia vera NA BeFree Detail
<0.001 psoriasis NA BeFree Detail
<0.001 Rabies (disorder) NA BeFree Detail
<0.001 rheumatic heart disease Signal transducers and activators of transcription (STATs) gene polymorphisms re... BeFree 24797343 Detail
<0.001 sarcoidosis NA BeFree Detail
<0.001 Staphylococcal Infections NA BeFree Detail
<0.001 synovitis NA BeFree Detail
<0.001 Thrombocythemia, Essential NA BeFree Detail
<0.001 Vascular Diseases NA BeFree Detail
<0.001 xanthomatosis NA BeFree Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
<0.001 diffuse large B-cell lymphoma The results of this study provide a rationale for the ongoing successful clinica... BeFree 25124685 Detail
<0.001 Lymphoma, T-Cell, Cutaneous NA BeFree Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
<0.001 acute leukemia NA BeFree Detail
<0.001 Pancreatitis, Chronic NA BeFree Detail
<0.001 Epstein-Barr Virus Infections NA BeFree Detail
<0.001 Primary Sj�gren's syndrome The present aim was to investigate the activation status of different STAT prote... BeFree 25736842 Detail
<0.001 porphyria cutanea tarda NA BeFree Detail
0.001 Tumor Progression NA BeFree Detail
<0.001 hepatoblastoma NA BeFree Detail
<0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Female Pseudohermaphroditism NA BeFree Detail
<0.001 Medullary carcinoma of thyroid NA BeFree Detail
<0.001 Fibrosis, Liver Acyl-CoA:cholesterol acyltransferase 1 mediates liver fibrosis by regulating fre... BeFree 24657401 Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 Cancer of Head and Neck NA BeFree Detail
<0.001 T-cell adult acute lymphoblastic leukemia A frequently affected pathway was the JAK/STAT pathway (18%) and a significant p... BeFree 25595890 Detail
<0.001 gallbladder adenocarcinoma NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 cervix carcinoma Cervical cancer is almost invariably associated with infection by human papillom... BeFree 25921106 Detail
<0.001 Dryness of eye NA BeFree Detail
<0.001 Tumor necrosis To this end, we identified TNBC-driven molecular pathways such as the Janus kina... BeFree 25611337 Detail
<0.001 Impaired cognition NA BeFree Detail
<0.001 Glaucoma, Primary Open Angle NA BeFree Detail
<0.001 eosinophilic esophagitis NA BeFree Detail
<0.001 Breast Cancer, Familial NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
<0.001 juvenile myelomonocytic leukemia NA BeFree Detail
<0.001 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
0.001 Malignant neoplasm of prostate MAPK and JAK/STAT pathways targeted by miR-23a and miR-23b in prostate cancer: c... BeFree 25604141 Detail
<0.001 Primary immune deficiency disorder NA BeFree Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Peritoneal Fibrosis Pathway analysis showed that the Jak-STAT, TGF-beta and MAPK signaling pathways ... BeFree 25827714 Detail
<0.001 Thyroid carcinoma NA BeFree Detail
<0.001 Malignant glioma Genetic inhibition of Aurora kinase A or Aurora kinase B or survivin by RNA inte... BeFree 25482928 Detail
0.005 Carcinogenesis NA BeFree Detail
<0.001 Leukemogenesis NA BeFree Detail
<0.001 Tumor Initiation NA BeFree Detail
0.002 prostate carcinoma MAPK and JAK/STAT pathways targeted by miR-23a and miR-23b in prostate cancer: c... BeFree 25604141 Detail
0.002 breast carcinoma CYT387 treatment inhibited activation of both NF-κB and STAT and disrupted expre... BeFree 25365225 Detail
0.001 Carcinoma of lung NA BeFree Detail
<0.001 colon carcinoma The CHIEF pathway was statistically significant for colon cancer (P(ARTP)= 0.03)... BeFree 25330801 Detail
<0.001 colon carcinoma The JAK/STAT/SOC was significant for colon cancer survival (PARTP = 0.035). BeFree 25541970 Detail
<0.001 Mitochondrial Diseases Modulating JAK-STAT activity may represent a novel therapeutic avenue for mitoch... BeFree 26122121 Detail
<0.001 Stuve-Wiedemann syndrome NA BeFree Detail
<0.001 Rhabdoid Tumor of the Kidney NA BeFree Detail
<0.001 Cerebral Ischemia NA BeFree Detail
<0.001 Metastatic Prostate Carcinoma NA BeFree Detail
<0.001 Squamous cell carcinoma of the head and neck These discoveries correlate strongly with previous findings connecting STATs, NF... BeFree 25857630 Detail
0.001 Chronic myeloproliferative disorder Furthermore, several classes of epigenetic modifiers have also been identified, ... BeFree 24445766 Detail
0.001 Chronic myeloproliferative disorder While JAK-STAT pathway activation has been shown to be central to the pathogenes... BeFree 25696868 Detail
<0.001 Classical Hodgkin's Lymphoma NA BeFree Detail
<0.001 Epithelioma NA BeFree Detail
0.001 Hepatocarcinogenesis NA BeFree Detail
<0.001 Leukemia, Large Granular Lymphocytic NA BeFree Detail
<0.001 Erythrocytosis NA BeFree Detail
<0.001 Deficiency of acetyl-CoA acetyltransferase NA BeFree Detail
<0.001 Meningioma, benign, no ICD-O subtype NA BeFree Detail
<0.001 uterine corpus cancer NA BeFree Detail
0.002 liver carcinoma We also found that inhibition of SPTBN1 or SMAD3 upregulated STAT3 promoter acti... BeFree 25096061 Detail
<0.001 Promyelocytic leukemia NA BeFree Detail
<0.001 Nasopharyngeal carcinoma NA BeFree Detail
<0.001 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
<0.001 Triple Negative Breast Neoplasms Here, we found that inducible IκB kinase-related (IKK-related) kinase IKBKE expr... BeFree 25365225 Detail
<0.001 Triple Negative Breast Neoplasms To this end, we identified TNBC-driven molecular pathways such as the Janus kina... BeFree 25611337 Detail
<0.001 Experimental Organism Basal Cell Carcinoma NA BeFree Detail
<0.001 Primary myelofibrosis Agents targeting the JAK-STAT pathway have dominated the investigational therape... BeFree 25189730 Detail
0.010 Alzheimer's disease NA BeFree,GAD,LHGDN Detail
<0.001 anemia NA BeFree Detail
0.003 Anoxia NA LHGDN Detail
0.002 arteriosclerosis NA BeFree Detail
<0.001 arthritis NA BeFree Detail
0.001 rheumatoid arthritis This is the first study to provide evidence of a functional link between HIF1α, ... BeFree 24525913 Detail
0.001 rheumatoid arthritis Considering the interplay of multiple STATs in response to cytokines, we investi... BeFree 25847223 Detail
<0.001 ataxia telangiectasia NA BeFree Detail
0.002 atherosclerosis NA BeFree Detail
<0.001 autistic disorder The effects of sera from autistic children were rescued by pre-treatment with a ... BeFree 25769033 Detail
<0.001 Autoimmune Diseases Network and protein-interaction analyses demonstrated converging roles for the s... BeFree 26301688 Detail
<0.001 Behcet Syndrome Activation of the JAK/STAT pathway in Behcet's disease. BeFree 25410656 Detail
<0.001 Bone Diseases NA BeFree Detail
<0.001 Brain Neoplasms NA BeFree Detail
0.002 Malignant neoplasm of breast CYT387 treatment inhibited activation of both NF-κB and STAT and disrupted expre... BeFree 25365225 Detail
<0.001 Malignant tumor of colon The CHIEF pathway was statistically significant for colon cancer (P(ARTP)= 0.03)... BeFree 25330801 Detail
<0.001 Malignant tumor of colon The JAK/STAT/SOC was significant for colon cancer survival (PARTP = 0.035). BeFree 25541970 Detail
<0.001 Malignant neoplasm of endometrium NA BeFree Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
They also mimic human SCCs by activation of therapeutically relevant pathways including STAT and mTO... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Cervical cancer is almost invariably associated with infection by human papillomavirus (HPV), and pr... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We report four novel genes associated with type 2 diabetes and recovery upon weight loss: ACAT1 (enc... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We, therefore, treated a panel of established glioma cell lines, including EGFR overexpressors, and ... DisGeNET Detail
As JAK2 V617F, MPL W515L is a novel acquired mutation that induces constitutive cytokine-independent... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Normal viral infection of the midgut requires bacterial flora and is inhibited by the activities of ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Whereas JAK-STAT and TGF-β signalling pathways were more highly enriched using targets of miRNAs upr... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Cellular phosphoprotein analysis demonstrated that JAK-mutated xenografts exhibited heightened activ... DisGeNET Detail
These efforts have characterized the genetic basis of recently described and poorly understood subty... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Laboratory studies revealed that CSF3RT618I induced JAK inhibitor-sensitive activation of JAK-STAT a... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we analyze the dysregulation of the Janus kinase (JAK)/STAT pathway and its role in the suppre... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Agents targeting the JAK-STAT pathway have dominated the investigational therapeutic portfolio over ... DisGeNET Detail
Furthermore, several classes of epigenetic modifiers have also been identified, in patients with MPN... DisGeNET Detail
While JAK-STAT pathway activation has been shown to be central to the pathogenesis of the MPN phenot... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Signal transducers and activators of transcription (STATs) gene polymorphisms related with susceptib... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The results of this study provide a rationale for the ongoing successful clinical trials targeting t... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The present aim was to investigate the activation status of different STAT proteins in peripheral bl... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Acyl-CoA:cholesterol acyltransferase 1 mediates liver fibrosis by regulating free cholesterol accumu... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A frequently affected pathway was the JAK/STAT pathway (18%) and a significant proportion of T-ALL p... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Cervical cancer is almost invariably associated with infection by human papillomavirus (HPV), and pr... DisGeNET Detail
NA DisGeNET Detail
To this end, we identified TNBC-driven molecular pathways such as the Janus kinase-signal transducer... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
MAPK and JAK/STAT pathways targeted by miR-23a and miR-23b in prostate cancer: computational and in ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Pathway analysis showed that the Jak-STAT, TGF-beta and MAPK signaling pathways had a close relation... DisGeNET Detail
NA DisGeNET Detail
Genetic inhibition of Aurora kinase A or Aurora kinase B or survivin by RNA interference also sensit... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
MAPK and JAK/STAT pathways targeted by miR-23a and miR-23b in prostate cancer: computational and in ... DisGeNET Detail
CYT387 treatment inhibited activation of both NF-κB and STAT and disrupted expression of the protumo... DisGeNET Detail
NA DisGeNET Detail
The CHIEF pathway was statistically significant for colon cancer (P(ARTP)= 0.03) with the most signi... DisGeNET Detail
The JAK/STAT/SOC was significant for colon cancer survival (PARTP = 0.035). DisGeNET Detail
Modulating JAK-STAT activity may represent a novel therapeutic avenue for mitochondrial diseases, wh... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These discoveries correlate strongly with previous findings connecting STATs, NF-κB and AP1 in HNSCC... DisGeNET Detail
Furthermore, several classes of epigenetic modifiers have also been identified, in patients with MPN... DisGeNET Detail
While JAK-STAT pathway activation has been shown to be central to the pathogenesis of the MPN phenot... 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
We also found that inhibition of SPTBN1 or SMAD3 upregulated STAT3 promoter activity in HCC cell-lin... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we found that inducible IκB kinase-related (IKK-related) kinase IKBKE expression and JAK/STAT ... DisGeNET Detail
To this end, we identified TNBC-driven molecular pathways such as the Janus kinase-signal transducer... DisGeNET Detail
NA DisGeNET Detail
Agents targeting the JAK-STAT pathway have dominated the investigational therapeutic portfolio over ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This is the first study to provide evidence of a functional link between HIF1α, STAT3 and Notch-1 si... DisGeNET Detail
Considering the interplay of multiple STATs in response to cytokines, we investigated how IL-6 and i... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The effects of sera from autistic children were rescued by pre-treatment with a ciliary neurotrophic... DisGeNET Detail
Network and protein-interaction analyses demonstrated converging roles for the signaling pathways of... DisGeNET Detail
Activation of the JAK/STAT pathway in Behcet's disease. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
CYT387 treatment inhibited activation of both NF-κB and STAT and disrupted expression of the protumo... DisGeNET Detail
The CHIEF pathway was statistically significant for colon cancer (P(ARTP)= 0.03) with the most signi... DisGeNET Detail
The JAK/STAT/SOC was significant for colon cancer survival (PARTP = 0.035). 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
rs386626619 dbSNP
Genome
hg38
Position
chr1:179,293,714-179,358,680
Variant Type
snv
Genome browser