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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for MTTP |
Basic gene info. | Gene symbol | MTTP |
Gene name | microsomal triglyceride transfer protein | |
Synonyms | ABL|MTP | |
Cytomap | UCSC genome browser: 4q24 | |
Genomic location | chr4 :100485239-100545154 | |
Type of gene | protein-coding | |
RefGenes | NM_000253.3, NM_001300785.1, | |
Ensembl id | ENSG00000138823 | |
Description | microsomal triglyceride transfer protein (large polypeptide, 88kDa)microsomal triglyceride transfer protein large subunit | |
Modification date | 20141207 | |
dbXrefs | MIM : 157147 | |
HGNC : HGNC | ||
Ensembl : ENSG00000138823 | ||
HPRD : 01144 | ||
Vega : OTTHUMG00000131023 | ||
Protein | UniProt: P55157 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MTTP | |
BioGPS: 4547 | ||
Gene Expression Atlas: ENSG00000138823 | ||
The Human Protein Atlas: ENSG00000138823 | ||
Pathway | NCI Pathway Interaction Database: MTTP | |
KEGG: MTTP | ||
REACTOME: MTTP | ||
ConsensusPathDB | ||
Pathway Commons: MTTP | ||
Metabolism | MetaCyc: MTTP | |
HUMANCyc: MTTP | ||
Regulation | Ensembl's Regulation: ENSG00000138823 | |
miRBase: chr4 :100,485,239-100,545,154 | ||
TargetScan: NM_000253 | ||
cisRED: ENSG00000138823 | ||
Context | iHOP: MTTP | |
cancer metabolism search in PubMed: MTTP | ||
UCL Cancer Institute: MTTP | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of MTTP in cancer cell metabolism | 1. Meidtner K, Fisher E, Ă„ngquist L, Holst C, Vimaleswaran KS, et al. (2014) Variation in genes related to hepatic lipid metabolism and changes in waist circumference and body weight. Genes & nutrition 9: 1-11. go to article |
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Phenotypic Information for MTTP(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: MTTP |
Familial Cancer Database: MTTP |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS REACTOME_LIPOPROTEIN_METABOLISM |
Others | |
OMIM | 157147; gene. 200100; phenotype. |
Orphanet | 14; Abetalipoproteinemia. 426; Familial hypobetalipoproteinemia. |
Disease | KEGG Disease: MTTP |
MedGen: MTTP (Human Medical Genetics with Condition) | |
ClinVar: MTTP | |
Phenotype | MGI: MTTP (International Mouse Phenotyping Consortium) |
PhenomicDB: MTTP |
Mutations for MTTP |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
There's no inter-chromosomal structural variation. |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | MTTP | chr4 | 100543395 | 100543415 | MTTP | chr4 | 100544692 | 100544712 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows MTTP related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=97) | (# total SNVs=31) |
(# total SNVs=1) | (# total SNVs=1) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr4:100540210-100540210 | p.E766G | 6 |
chr4:100534204-100534204 | p.N708N | 3 |
chr4:100532398-100532398 | p.? | 3 |
chr4:100504664-100504664 | p.I128T | 3 |
chr4:100543939-100543939 | p.E873D | 2 |
chr4:100503146-100503146 | p.G49V | 2 |
chr4:100504575-100504575 | p.E98D | 2 |
chr4:100503173-100503173 | p.R58H | 2 |
chr4:100534247-100534247 | p.D723N | 2 |
chr4:100534268-100534268 | p.G730* | 2 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 5 | 6 | 1 | 31 | 1 |   | 4 |   | 4 |   |   | 12 | 9 | 3 | 1 | 3 | 15 | 11 | 2 | 11 |
# mutation | 5 | 6 | 1 | 27 | 1 |   | 4 |   | 4 |   |   | 13 | 9 | 3 | 1 | 3 | 20 | 11 | 2 | 12 |
nonsynonymous SNV | 3 | 3 |   | 20 | 1 |   | 2 |   | 3 |   |   | 10 | 4 | 3 |   | 2 | 16 | 10 | 1 | 9 |
synonymous SNV | 2 | 3 | 1 | 8 |   |   | 2 |   | 1 |   |   | 3 | 5 |   | 1 | 1 | 4 | 1 | 1 | 3 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr4:100540210 | p.E766G | 6 |
chr4:100534204 | p.N708N | 3 |
chr4:100532503 | p.R626C | 2 |
chr4:100543935 | p.A628T | 2 |
chr4:100543939 | p.L36L | 2 |
chr4:100532497 | p.Q872L | 2 |
chr4:100503108 | p.E873D | 2 |
chr4:100532321 | p.P403P | 1 |
chr4:100534293 | p.V539V | 1 |
chr4:100503146 | p.F608L | 1 |
Other DBs for Point Mutations |
Copy Number for MTTP in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for MTTP |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
A1CF,APCS,APOA1,APOA2,APOA4,APOB,C3P1, C8A,COLEC11,CREB3L3,CRP,F11,F2,FABP1, FGF23,GCKR,ITIH3,MT1B,MTTP,OIT3,SULT2A1 | ANKRD40,AP3S2,ARHGEF6,LINC00310,C6orf106,CRYAB,CSDE1, EIF4E3,EPDR1,KAT2B,MTTP,NFE2L1,PPM1L,QKI, RHOQ,SETD3,SETD7,SGCB,TMEM56,YPEL2,YWHAG | ||||
ADA,C17orf78,CALCB,CCL25,CLDN15,CLDN22,CYP7A1, DAB1,DAK,DEFB135,INSC,MTTP,NLRP6,RBP2, REEP6,SERPINE3,SLC7A9,SPAM1,TBX3,TM6SF2,TMEM229A | AADAC,APOB,CPO,CRISP1,CUBN,FAM99A,FAM99B, GSTA5,KCNJ13,LCE3E,LOC388428,MOS,MTTP,ONECUT3, OR10H1,OR10H5,OR4N5,PWAR4___F2RL3___PAWR,SOAT2,SPANXN3,UGT3A1 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for MTTP |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | P55157; -. |
Chemistry | ChEMBL | CHEMBL2364681; -. |
Organism-specific databases | PharmGKB | PA164742099; -. |
Organism-specific databases | CTD | 4547; -. |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB01094 | microsomal triglyceride transfer protein | approved | Hesperetin |
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Cross referenced IDs for MTTP |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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