chr4:100485238:> Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:100,485,238-100,545,154 |
hg38 | chr4:99,564,081-99,623,997 |
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 |
---|---|---|---|---|---|
0.008 | Cardiovascular Diseases | We review contemporary aspects of the biology and therapeutic regulation of MTP ... | BeFree,GAD | 25552696 | Detail |
<0.001 | cerebral palsy | NA | BeFree | Detail | |
0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
<0.001 | colorectal carcinoma | NA | BeFree | Detail | |
0.003 | Coronary Arteriosclerosis | NA | BeFree,GAD | Detail | |
0.003 | Coronary heart disease | NA | BeFree,GAD | 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 | |
0.011 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,GAD | Detail | |
<0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
0.133 | Fatty Liver | Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis de... | BeFree,CTD_human,GAD,LHGDN | 24842304 | Detail |
0.133 | Fatty Liver | Partial MTP inhibition using small molecule inhibitors, such as lomitapide, can ... | BeFree,CTD_human,GAD,LHGDN | 25552696 | Detail |
0.133 | Fatty Liver | Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarka... | BeFree,CTD_human,GAD,LHGDN | 26458397 | Detail |
<0.001 | Fatty Liver, Alcoholic | NA | BeFree | Detail | |
<0.001 | glioblastoma | NA | BeFree | Detail | |
<0.001 | Graft-vs-Host Disease | NA | BeFree | Detail | |
0.002 | Heart Diseases | NA | GAD | Detail | |
<0.001 | Hematological Disease | NA | BeFree | Detail | |
0.003 | hepatitis B | NA | BeFree,GAD | Detail | |
0.004 | hepatitis C | The aim of this study was to study MTP expression pattern in HCV patients and im... | BeFree,LHGDN | 25287167 | Detail |
0.004 | hepatitis C | Consistently with this, MTP protein and mRNA levels were suppressed by HCV infec... | BeFree,LHGDN | 25673715 | Detail |
0.003 | HIV Infections | NA | BeFree,GAD | Detail | |
0.003 | Hypercholesterolemia, Familial | New therapies such as mipomersen, a second-generation antisense oligonucleotide,... | BeFree | 24870549 | Detail |
0.003 | Hypercholesterolemia, Familial | Partial MTP inhibition using small molecule inhibitors, such as lomitapide, can ... | BeFree | 25552696 | Detail |
0.003 | hyperinsulinism | NA | BeFree,GAD | Detail | |
<0.001 | Hyperlipidemia, Familial Combined | MTP gene polymorphisms and postprandial lipemia in familial combined hyperlipide... | BeFree | 24378322 | Detail |
0.002 | Hypertensive disease | NA | GAD | Detail | |
0.003 | Hypertriglyceridemia | NA | LHGDN | Detail | |
0.004 | Hypobetalipoproteinemias | NA | BeFree,LHGDN | Detail | |
<0.001 | hypothyroidism | NA | BeFree | Detail | |
<0.001 | Immunologic Deficiency Syndromes | NA | BeFree | Detail | |
<0.001 | Immune System Diseases | NA | BeFree | Detail | |
0.002 | Inflammation | NA | GAD | Detail | |
0.007 | Insulin resistance | NA | GAD | Detail | |
<0.001 | Kidney Failure, Acute | NA | BeFree | Detail | |
0.008 | leukemia | NA | BeFree | Detail | |
<0.001 | Acute Erythroblastic Leukemia | NA | BeFree | Detail | |
0.011 | Acute lymphocytic leukemia | The diagnosis of 'Philadelphia like' poor prognosis ALLs is technically challeng... | BeFree | 24848770 | Detail |
<0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
<0.001 | acute biphenotypic leukemia | NA | BeFree | Detail | |
0.004 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
0.055 | Myeloid Leukemia, Chronic | ABL-specific tyrosine kinase inhibitors (TKIs) induce minimal apoptosis in CML p... | BeFree | 24806995 | Detail |
0.055 | Myeloid Leukemia, Chronic | Despite the clinical efficacy achieved with frontline therapies for BCR-ABL-posi... | BeFree | 25331939 | Detail |
0.055 | Myeloid Leukemia, Chronic | The non-receptor tyrosine kinase ABL drives myeloid progenitor expansion in huma... | BeFree | 25803821 | Detail |
<0.001 | Leukemia, Myeloid, Chronic-Phase | NA | BeFree | Detail | |
<0.001 | Leukemia, Myelomonocytic, Chronic | NA | BeFree | Detail | |
<0.001 | chronic neutrophilic leukemia | NA | BeFree | Detail | |
<0.001 | Adult T-Cell Lymphoma/Leukemia | NA | BeFree | Detail | |
0.003 | liver cirrhosis | Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarka... | BeFree,GAD | 26458397 | Detail |
0.001 | Liver diseases | NA | BeFree | Detail | |
<0.001 | Liver neoplasms | NA | BeFree | Detail | |
<0.001 | lymphoma | NA | BeFree | Detail | |
<0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
<0.001 | Malabsorption Syndrome | NA | BeFree | Detail | |
0.002 | Metabolic Diseases | NA | GAD | Detail | |
<0.001 | Monosomy | NA | BeFree | Detail | |
<0.001 | multiple myeloma | NA | BeFree | Detail | |
<0.001 | Myeloproliferative disease | NA | BeFree | Detail | |
<0.001 | myocardial infarction | NA | BeFree | Detail | |
<0.001 | nail-patella syndrome | NA | BeFree | Detail | |
<0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
<0.001 | nephroblastoma | NA | BeFree | Detail | |
<0.001 | obesity | NA | BeFree | Detail | |
<0.001 | plasmacytoma | NA | BeFree | Detail | |
<0.001 | retinoblastoma | NA | BeFree | Detail | |
<0.001 | Retroviridae Infections | NA | BeFree | Detail | |
<0.001 | Septicemia | NA | BeFree | Detail | |
<0.001 | tuberous sclerosis | NA | BeFree | Detail | |
<0.001 | Virus Diseases | NA | BeFree | Detail | |
0.008 | Peripheral Vascular Diseases | NA | BeFree,GAD,LHGDN | Detail | |
<0.001 | severe combined immunodeficiency | NA | BeFree | Detail | |
0.003 | acute leukemia | NA | BeFree | Detail | |
<0.001 | Monocytosis | NA | BeFree | Detail | |
<0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
<0.001 | esophageal carcinoma | NA | BeFree | Detail | |
0.002 | Lipid Metabolism Disorders | NA | GAD | Detail | |
<0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
<0.001 | Fibrosis, Liver | A polymorphism in the microsomal triglyceride transfer protein (MTP) is associat... | BeFree | 25287167 | Detail |
0.007 | Dyslipidemias | Knowledge of the molecular basis for abetalipoproteinemia has led to the develop... | BeFree,GAD,LHGDN | 25552696 | Detail |
<0.001 | age related macular degeneration | NA | BeFree | Detail | |
0.002 | Neoplasm, Residual | The Abelson (ABL) gene was the best control gene for quantitative PCR (qPCR)-bas... | BeFree | 23990051 | Detail |
<0.001 | Mucosa-Associated Lymphoid Tissue Lymphoma | NA | BeFree | Detail | |
<0.001 | Sepsis | NA | BeFree | Detail | |
<0.001 | Acute respiratory failure | NA | BeFree | Detail | |
<0.001 | Spastic syndrome | NA | BeFree | Detail | |
<0.001 | Impaired glucose tolerance | NA | BeFree | Detail | |
<0.001 | Carcinoma breast stage IV | NA | BeFree | Detail | |
0.002 | Philadelphia chromosome positive chronic myelogenous leukemia | NA | BeFree | Detail | |
<0.001 | Philadelphia chromosome negative chronic myelogenous leukemia | NA | BeFree | Detail | |
<0.001 | Solid tumour | Recently, ABL has also been implicated in the transforming properties of solid t... | BeFree | 25803821 | Detail |
<0.001 | Obesity, Abdominal | NA | BeFree | Detail | |
<0.001 | Tumor necrosis | NA | BeFree | Detail | |
<0.001 | Hematopoietic Neoplasms | NA | BeFree | Detail | |
<0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
0.002 | Non-alcoholic Fatty Liver Disease | MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoh... | BeFree | 26458397 | Detail |
<0.001 | neuropathy | NA | BeFree | Detail | |
0.005 | body mass | NA | GAD | Detail | |
0.005 | Metabolic syndrome X | Several MTTP polymorphisms have been reported relating to metabolic syndrome, hy... | BeFree,GAD | 26458397 | Detail |
0.002 | Hepatitis B, Chronic | NA | GAD | Detail | |
0.006 | Hepatitis C, Chronic | A polymorphism in the microsomal triglyceride transfer protein can predict the r... | BeFree,GAD | 25287167 | Detail |
<0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
0.002 | Leukemogenesis | NA | BeFree | Detail | |
0.001 | Refractory cancer | NA | BeFree | Detail | |
0.055 | Myeloid Leukemia, Chronic | Abnormalities of tyrosine kinase proteins are well recognised in myeloid maligna... | BeFree | 21722956 | Detail |
<0.001 | breast carcinoma | In conclusion, the observation that TN breast cancer cell lines respond differen... | BeFree | 25803821 | Detail |
<0.001 | adult acute lymphocytic leukemia | NA | BeFree | Detail | |
<0.001 | chylomicron retention disease | NA | BeFree | Detail | |
<0.001 | Leukemia secondary | NA | BeFree | Detail | |
0.003 | Philadelphia chromosome positive | NA | BeFree | Detail | |
<0.001 | sarcoma | NA | BeFree | Detail | |
0.002 | Blood pressure finding | NA | GAD | Detail | |
0.005 | Systemic arterial pressure | NA | GAD | Detail | |
<0.001 | Chronic myeloproliferative disorder | NA | BeFree | Detail | |
<0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
<0.001 | Xenograft Model | NA | BeFree | Detail | |
<0.001 | colorectal cancer | NA | BeFree | Detail | |
<0.001 | Cirrhosis | Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarka... | BeFree | 26458397 | Detail |
0.001 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL | NA | BeFree | Detail | |
<0.001 | Familial hypobetalipoproteinemia | NA | BeFree | Detail | |
0.004 | Philadelphia chromosome-positive acute lymphoblastic leukemia | ABL kinase mutation and relapse in 4 pediatric Philadelphia chromosome-positive ... | BeFree | 24652384 | Detail |
0.004 | Philadelphia chromosome-positive acute lymphoblastic leukemia | We retrospectively analyzed adults who underwent allogeneic HSCT for CML and Ph ... | BeFree | 25300870 | Detail |
0.004 | Philadelphia chromosome-positive acute lymphoblastic leukemia | Despite the clinical efficacy achieved with frontline therapies for BCR-ABL-posi... | BeFree | 25331939 | Detail |
<0.001 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | NA | BeFree | Detail | |
0.007 | Precursor Cell Lymphoblastic Leukemia Lymphoma | The diagnosis of 'Philadelphia like' poor prognosis ALLs is technically challeng... | BeFree | 24848770 | Detail |
<0.001 | Leukemia, B-Cell | NA | BeFree | Detail | |
0.003 | liver carcinoma | NA | BeFree,LHGDN | Detail | |
0.003 | Steatohepatitis | Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis de... | BeFree | 24842304 | Detail |
0.003 | Steatohepatitis | Partial MTP inhibition using small molecule inhibitors, such as lomitapide, can ... | BeFree | 25552696 | Detail |
0.003 | Steatohepatitis | Several MTTP polymorphisms have been reported relating to metabolic syndrome, hy... | BeFree | 26458397 | Detail |
<0.001 | Alcoholic Steatohepatitis | NA | BeFree | Detail | |
0.120 | Abdominal obesity metabolic syndrome | NA | CTD_human | Detail | |
0.003 | Obesity, Visceral | NA | BeFree,GAD | Detail | |
<0.001 | Nonalcoholic Steatohepatitis | NA | BeFree | Detail | |
<0.001 | Triple Negative Breast Neoplasms | ABL tyrosine kinase inhibition variable effects on the invasive properties of di... | BeFree | 25803821 | Detail |
<0.001 | Insulin resistance syndrome | NA | BeFree | Detail | |
0.491 | abetalipoproteinemia | Knowledge of the molecular basis for abetalipoproteinemia has led to the develop... | BeFree,CLINVAR,CTD_human,LHGDN,ORPHANET,UNIPROT | 25552696 | Detail |
0.491 | abetalipoproteinemia | Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarka... | BeFree,CLINVAR,CTD_human,LHGDN,ORPHANET,UNIPROT | 26458397 | Detail |
<0.001 | arteriosclerosis | NA | BeFree | Detail | |
0.006 | atherosclerosis | NA | BeFree,GAD,LHGDN | Detail | |
0.005 | Blast Phase | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of breast | In conclusion, the observation that TN breast cancer cell lines respond differen... | BeFree | 25803821 | Detail |
<0.001 | Burkitt lymphoma | NA | BeFree | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
We review contemporary aspects of the biology and therapeutic regulation of MTP and their significan... | 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 |
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic diff... | DisGeNET | Detail |
Partial MTP inhibition using small molecule inhibitors, such as lomitapide, can effectively lower pl... | DisGeNET | Detail |
Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarkable hepatic steatosi... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The aim of this study was to study MTP expression pattern in HCV patients and impact of the MTP poly... | DisGeNET | Detail |
Consistently with this, MTP protein and mRNA levels were suppressed by HCV infection. | DisGeNET | Detail |
NA | DisGeNET | Detail |
New therapies such as mipomersen, a second-generation antisense oligonucleotide, microsomal triglyce... | DisGeNET | Detail |
Partial MTP inhibition using small molecule inhibitors, such as lomitapide, can effectively lower pl... | DisGeNET | Detail |
NA | DisGeNET | Detail |
MTP gene polymorphisms and postprandial lipemia in familial combined hyperlipidemia: effects of trea... | 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 |
The diagnosis of 'Philadelphia like' poor prognosis ALLs is technically challenging but of paramount... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
ABL-specific tyrosine kinase inhibitors (TKIs) induce minimal apoptosis in CML progenitor cells, yet... | DisGeNET | Detail |
Despite the clinical efficacy achieved with frontline therapies for BCR-ABL-positive disease, such a... | DisGeNET | Detail |
The non-receptor tyrosine kinase ABL drives myeloid progenitor expansion in human chronic myeloid le... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarkable hepatic steatosi... | 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 |
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 |
A polymorphism in the microsomal triglyceride transfer protein (MTP) is associated with hepatic fibr... | DisGeNET | Detail |
Knowledge of the molecular basis for abetalipoproteinemia has led to the development of therapies fo... | DisGeNET | Detail |
NA | DisGeNET | Detail |
The Abelson (ABL) gene was the best control gene for quantitative PCR (qPCR)-based diagnosis and min... | 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 |
Recently, ABL has also been implicated in the transforming properties of solid tumors, including tri... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver dis... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Several MTTP polymorphisms have been reported relating to metabolic syndrome, hyperlipidemia and ste... | DisGeNET | Detail |
NA | DisGeNET | Detail |
A polymorphism in the microsomal triglyceride transfer protein can predict the response to antiviral... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in t... | DisGeNET | Detail |
In conclusion, the observation that TN breast cancer cell lines respond differently to ABL inhibitor... | 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 |
Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarkable hepatic steatosi... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
ABL kinase mutation and relapse in 4 pediatric Philadelphia chromosome-positive acute lymphoblastic ... | DisGeNET | Detail |
We retrospectively analyzed adults who underwent allogeneic HSCT for CML and Ph + ALL at our institu... | DisGeNET | Detail |
Despite the clinical efficacy achieved with frontline therapies for BCR-ABL-positive disease, such a... | DisGeNET | Detail |
NA | DisGeNET | Detail |
The diagnosis of 'Philadelphia like' poor prognosis ALLs is technically challenging but of paramount... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic diff... | DisGeNET | Detail |
Partial MTP inhibition using small molecule inhibitors, such as lomitapide, can effectively lower pl... | DisGeNET | Detail |
Several MTTP polymorphisms have been reported relating to metabolic syndrome, hyperlipidemia and ste... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
ABL tyrosine kinase inhibition variable effects on the invasive properties of different triple negat... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Knowledge of the molecular basis for abetalipoproteinemia has led to the development of therapies fo... | DisGeNET | Detail |
Cases of MTTP gene mutation is characterized by abetalipoproteinemia and remarkable hepatic steatosi... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
In conclusion, the observation that TN breast cancer cell lines respond differently to ABL inhibitor... | 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
- hg19
- Position
- chr4:100,485,238-100,545,154
- Variant Type
- snv
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