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

DescrptionSourceLinks
We review contemporary aspects of the biology and therapeutic regulation of MTP and their significan... DisGeNET Detail
NA DisGeNET Detail
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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
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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
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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
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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
Genome browser