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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for DGAT2 |
Basic gene info. | Gene symbol | DGAT2 |
Gene name | diacylglycerol O-acyltransferase 2 | |
Synonyms | ARAT|GS1999FULL | |
Cytomap | UCSC genome browser: 11q13.5 | |
Genomic location | chr11 :75479777-75512581 | |
Type of gene | protein-coding | |
RefGenes | NM_001253891.1, NM_032564.4, | |
Ensembl id | ENSG00000062282 | |
Description | acyl-CoA retinol O-fatty-acyltransferasediacylglycerol O-acyltransferase homolog 2diacylglycerol O-acyltransferase-like protein 2diglyceride acyltransferase 2retinol O-fatty-acyltransferase | |
Modification date | 20141207 | |
dbXrefs | MIM : 606983 | |
HGNC : HGNC | ||
Ensembl : ENSG00000062282 | ||
HPRD : 07376 | ||
Vega : OTTHUMG00000165338 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DGAT2 | |
BioGPS: 84649 | ||
Gene Expression Atlas: ENSG00000062282 | ||
The Human Protein Atlas: ENSG00000062282 | ||
Pathway | NCI Pathway Interaction Database: DGAT2 | |
KEGG: DGAT2 | ||
REACTOME: DGAT2 | ||
ConsensusPathDB | ||
Pathway Commons: DGAT2 | ||
Metabolism | MetaCyc: DGAT2 | |
HUMANCyc: DGAT2 | ||
Regulation | Ensembl's Regulation: ENSG00000062282 | |
miRBase: chr11 :75,479,777-75,512,581 | ||
TargetScan: NM_001253891 | ||
cisRED: ENSG00000062282 | ||
Context | iHOP: DGAT2 | |
cancer metabolism search in PubMed: DGAT2 | ||
UCL Cancer Institute: DGAT2 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for DGAT2(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: DGAT2 |
Familial Cancer Database: DGAT2 |
* 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 | |
KEGG_GLYCEROLIPID_METABOLISM KEGG_RETINOL_METABOLISM REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: DGAT2 |
MedGen: DGAT2 (Human Medical Genetics with Condition) | |
ClinVar: DGAT2 | |
Phenotype | MGI: DGAT2 (International Mouse Phenotyping Consortium) |
PhenomicDB: DGAT2 |
Mutations for DGAT2 |
* 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 | DGAT2 | chr11 | 75484116 | 75484136 | DGAT2 | chr11 | 75484171 | 75484191 |
ovary | DGAT2 | chr11 | 75511782 | 75511802 | DGAT2 | chr11 | 75505015 | 75505035 |
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 DGAT2 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 |
AA694250 | DGAT2 | 38 | 326 | 11 | 75512291 | 75512579 | TMBIM6 | 313 | 435 | 12 | 50158116 | 50158239 | |
CB153782 | DGAT2 | 1 | 226 | 11 | 75512301 | 75512526 | DOCK4 | 219 | 293 | 7 | 111516955 | 111517029 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 3 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 | |||
GAIN (# sample) | 3 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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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=33) | (# total SNVs=6) |
(# total SNVs=0) | (# total SNVs=0) |
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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 |
chr11:75511517-75511517 | p.F377F | 3 |
chr11:75508299-75508299 | p.S244C | 2 |
chr11:75501756-75501756 | p.R137* | 2 |
chr11:75509332-75509332 | p.F290F | 2 |
chr11:75509333-75509333 | p.E291* | 2 |
chr11:75509339-75509339 | p.G293S | 2 |
chr11:75508290-75508290 | p.A241V | 1 |
chr11:75501262-75501262 | p.I94V | 1 |
chr11:75509352-75509352 | p.R297L | 1 |
chr11:75511497-75511497 | p.D371N | 1 |
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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 |   | 2 |   | 6 |   |   | 1 |   |   | 1 |   |   | 3 |   |   |   | 9 | 2 |   | 7 |
# mutation |   | 2 |   | 6 |   |   | 1 |   |   | 1 |   |   | 3 |   |   |   | 10 | 2 |   | 7 |
nonsynonymous SNV |   | 2 |   | 4 |   |   | 1 |   |   |   |   |   | 3 |   |   |   | 6 | 1 |   | 6 |
synonymous SNV |   |   |   | 2 |   |   |   |   |   | 1 |   |   |   |   |   |   | 4 | 1 |   | 1 |
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 |
chr11:75509332 | p.F247F,DGAT2 | 2 |
chr11:75509461 | p.K103N,DGAT2 | 1 |
chr11:75501706 | p.I270I,DGAT2 | 1 |
chr11:75508276 | p.H120R,DGAT2 | 1 |
chr11:75511496 | p.P286S,DGAT2 | 1 |
chr11:75501723 | p.E134K,DGAT2 | 1 |
chr11:75508290 | p.P290P,DGAT2 | 1 |
chr11:75511497 | p.K140T,DGAT2 | 1 |
chr11:75501768 | p.F327F,DGAT2 | 1 |
chr11:75508295 | p.P172S,DGAT2 | 1 |
Other DBs for Point Mutations |
Copy Number for DGAT2 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 DGAT2 |
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 |
ANKRD35,AWAT1,C1orf105,CARD18,CCL26,CYP2F1,CYP3A4, DGAT2,DGAT2L6,ELOVL4,FADS6,KIAA0408,KRT79,PLA2G2F, PNPLA1,PNPLA5,PSAPL1,RDH12,SGK2,SLC29A4,SOAT1 | ACSL1,ADIPOR2,DGAT1,DGAT2,DHRS11,FMOD,GDPD5, GPAM,GPD1,HCAR2,HEPACAM,HEPN1,HSPA12A,KLB, LAIR1,MGLL,MRAP,PDXK,SGK2,SLC29A4,THRSP |
ACSF2,ASCL2,GID8,APMAP,C8orf33,CEBPA,CSE1L, DGAT2,EPDR1,ERGIC3,MYC,NFS1,PAAF1,PLAGL2, POFUT1,POU5F1B,SLC19A3,SLC5A6,SYT7,TOP1MT,ZNF696 | ADIPOQ,CIDEA,DEFB132,DGAT2,FABP4,FCN2,G0S2, GPAM,KCNIP2,KRT79,LGALS12,LIPE,LOC283392,LPL, MRAP,PFKFB1,PLIN1,SAA1,SLC7A10,THRSP,TUSC5 |
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 DGAT2 |
There's no related Drug. |
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Cross referenced IDs for DGAT2 |
* 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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