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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for MBOAT2 |
Basic gene info. | Gene symbol | MBOAT2 |
Gene name | membrane bound O-acyltransferase domain containing 2 | |
Synonyms | LPCAT4|OACT2 | |
Cytomap | UCSC genome browser: 2p25.1 | |
Genomic location | chr2 :8996700-9143876 | |
Type of gene | protein-coding | |
RefGenes | NM_138799.2, | |
Ensembl id | ENSG00000143797 | |
Description | 1-acylglycerophosphate O-acyltransferase1-acylglycerophosphoethanolamine O-acyltransferaseLPAATLPEATLPLAT 2O-acyltransferase (membrane bound) domain containing 2O-acyltransferase domain-containing protein 2lyso-PA acyltransferaselyso-PE acyltransf | |
Modification date | 20141207 | |
dbXrefs | MIM : 611949 | |
HGNC : HGNC | ||
HPRD : 11410 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MBOAT2 | |
BioGPS: 129642 | ||
Gene Expression Atlas: ENSG00000143797 | ||
The Human Protein Atlas: ENSG00000143797 | ||
Pathway | NCI Pathway Interaction Database: MBOAT2 | |
KEGG: MBOAT2 | ||
REACTOME: MBOAT2 | ||
ConsensusPathDB | ||
Pathway Commons: MBOAT2 | ||
Metabolism | MetaCyc: MBOAT2 | |
HUMANCyc: MBOAT2 | ||
Regulation | Ensembl's Regulation: ENSG00000143797 | |
miRBase: chr2 :8,996,700-9,143,876 | ||
TargetScan: NM_138799 | ||
cisRED: ENSG00000143797 | ||
Context | iHOP: MBOAT2 | |
cancer metabolism search in PubMed: MBOAT2 | ||
UCL Cancer Institute: MBOAT2 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for MBOAT2(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: MBOAT2 |
Familial Cancer Database: MBOAT2 |
* 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_GLYCEROPHOSPHOLIPID_METABOLISM REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: MBOAT2 |
MedGen: MBOAT2 (Human Medical Genetics with Condition) | |
ClinVar: MBOAT2 | |
Phenotype | MGI: MBOAT2 (International Mouse Phenotyping Consortium) |
PhenomicDB: MBOAT2 |
Mutations for MBOAT2 |
* 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 |
breast | MBOAT2 | chr2 | 9017642 | 9017642 | PRKCE | chr2 | 46325940 | 46325940 |
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 MBOAT2 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 |
BP270882 | FABP2 | 1 | 327 | 4 | 120240727 | 120243273 | MBOAT2 | 323 | 583 | 2 | 9003275 | 9003534 | |
AW001546 | IDH1 | 1 | 242 | 2 | 209100954 | 209101195 | MBOAT2 | 239 | 557 | 2 | 9077895 | 9078213 |
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 |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   | 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=27) | (# total SNVs=6) |
(# total SNVs=4) | (# 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 |
chr2:9098719-9098719 | p.R43Q | 7 |
chr2:9017342-9017342 | p.R170C | 3 |
chr2:9028160-9028160 | p.E147K | 2 |
chr2:9013315-9013315 | p.S269L | 2 |
chr2:9004366-9004366 | p.? | 2 |
chr2:9008594-9008594 | p.L323F | 2 |
chr2:8998958-8998958 | p.K472E | 2 |
chr2:9022671-9022673 | p.L159delL | 2 |
chr2:9013287-9013287 | p.Y278Y | 1 |
chr2:9098635-9098635 | p.C71S | 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 |   | 1 |   | 8 |   |   | 1 |   | 1 |   |   | 4 |   |   | 1 |   | 3 | 2 | 1 | 6 |
# mutation |   | 1 |   | 9 |   |   | 1 |   | 1 |   |   | 3 |   |   | 1 |   | 3 | 2 | 1 | 3 |
nonsynonymous SNV |   | 1 |   | 8 |   |   |   |   |   |   |   | 3 |   |   | 1 |   | 2 |   | 1 | 3 |
synonymous SNV |   |   |   | 1 |   |   | 1 |   | 1 |   |   |   |   |   |   |   | 1 | 2 |   |   |
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 |
chr2:9098719 | p.R43Q | 6 |
chr2:9008594 | p.L323F | 2 |
chr2:9017322 | p.S321F | 1 |
chr2:9004330 | p.R316S | 1 |
chr2:9028160 | p.G308W | 1 |
chr2:9048798 | p.A295A | 1 |
chr2:9008601 | p.H263H | 1 |
chr2:9083336 | p.A232V | 1 |
chr2:9008617 | p.I202I | 1 |
chr2:9098626 | p.Y198C | 1 |
Other DBs for Point Mutations |
Copy Number for MBOAT2 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 MBOAT2 |
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 |
BMI1,LINC00589,DNAJC1,ENPP3,FAM65C,MAP10,KRT40, KRTAP1-3,KRTAP1-5,KRTAP3-2,KRTAP3-3,LGALS9B,LGALS9C,MAN1A1, MBOAT2,NPY6R,PARP8,PDZRN3,SIPA1L2,SPAG17,ZNRF3 | ACSL3,ALCAM,ALDH3B2,CEP128,CCDC15,CROT,FMO5, GCNT2,IQGAP2,KIAA1244,MBOAT2,MCCC2,NUP62CL,PON3, PTPLAD1,PXMP4,SLC38A1,TMEM62,TMEM63C,TRIM36,UGT2B11 |
ASAP2,LINC01550,HID1,CAMK2D,CAPN9,CREB3L1,FAM114A1, FAM167A,FAM174B,GFI1,MBOAT2,MLPH,PTGER2,SHROOM3, SIDT1,SLC16A7,SLC36A4,SPDEF,ST3GAL4,TOX,ZBTB7C | AP2B1,LINC00589,C9orf152,CASD1,CPM,GALNT5,IL1R2, KLK1,MAP3K5,MBOAT2,MFSD6L,MLPH,MTMR1,MYO5C, NANS,QSOX1,SLC1A5,SLC7A4,SYTL4,TTC39A,WNK4 |
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 MBOAT2 |
There's no related Drug. |
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Cross referenced IDs for MBOAT2 |
* 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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