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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ETNK2 |
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Phenotypic Information for ETNK2(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: ETNK2 |
Familial Cancer Database: ETNK2 |
* 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_GLYCEROPHOSPHOLIPID_METABOLISM REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: ETNK2 |
MedGen: ETNK2 (Human Medical Genetics with Condition) | |
ClinVar: ETNK2 | |
Phenotype | MGI: ETNK2 (International Mouse Phenotyping Consortium) |
PhenomicDB: ETNK2 |
Mutations for ETNK2 |
* 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 |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ETNK2 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 |
BU624180 | ETNK2 | 18 | 245 | 1 | 204100190 | 204100544 | MMP14 | 240 | 594 | 14 | 23315755 | 23316109 | |
BF933482 | MBP | 11 | 112 | 18 | 74691516 | 74691618 | ETNK2 | 98 | 338 | 1 | 204110463 | 204110703 |
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 | 2 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) | 2 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
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=30) | (# total SNVs=5) |
(# total SNVs=0) | (# 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 |
chr1:204120952-204120952 | p.P10Q | 14 |
chr1:204106375-204106375 | p.V291M | 2 |
chr1:204115853-204115853 | p.H186H | 2 |
chr1:204115879-204115879 | p.E178* | 2 |
chr1:204110547-204110547 | p.R227Q | 2 |
chr1:204115797-204115797 | p.T205M | 2 |
chr1:204115852-204115852 | p.A187T | 1 |
chr1:204109170-204109170 | p.E287E | 1 |
chr1:204109238-204109238 | p.R265W | 1 |
chr1:204118842-204118842 | p.P169P | 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 |   | 3 |   |   | 1 |   | 1 |   |   | 1 |   | 2 |   |   |   | 2 | 1 | 2 |
# mutation |   | 1 |   | 3 |   |   | 1 |   | 1 |   |   | 1 |   | 2 |   |   |   | 2 | 1 | 2 |
nonsynonymous SNV |   | 1 |   | 2 |   |   | 1 |   | 1 |   |   | 1 |   | 2 |   |   |   | 2 |   | 2 |
synonymous SNV |   |   |   | 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 |
chr1:204115797 | p.T205M | 3 |
chr1:204109238 | p.R265W | 1 |
chr1:204115773 | p.P213H | 1 |
chr1:204115784 | p.N209N | 1 |
chr1:204101382 | p.A187T | 1 |
chr1:204115852 | p.H186H | 1 |
chr1:204103686 | p.A176T | 1 |
chr1:204115853 | p.V58M | 1 |
chr1:204103702 | p.Y364C | 1 |
chr1:204115885 | p.L349I | 1 |
Other DBs for Point Mutations |
Copy Number for ETNK2 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 ETNK2 |
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 |
ANXA9,CCDC57,DALRD3,DCXR,DNALI1,EBF4,ETNK2, FASN,GAMT,GATSL3,KCNJ11,MRFAP1,ECI2,REEP5, SEMA3F,SLC39A11,SORD,SOX13,SPDEF,TP53TG1,TTC39A | AP1M2,ASTN2,BATF,DNAAF3,CLPSL2,C9orf116,ETNK2, HOXC10,LEO1,MARVELD3,MIPEP,PAFAH2,S100A14,SEC14L2, SERPINA5,SLC39A11,SMPDL3B,TBC1D8,TSPAN1,WNT4,ZNF689 |
APBB1,BCAM,CCDC136,CHST10,CPNE1,ETNK2,GGT7, GPSM1,KCNIP3,KIF3C,LARP6,CERS4,LDLRAD3,LTBP3, MPP2,ORAI2,PIP4K2B,SHISA4,SLC45A1,SMO,ZNF853 | A4GALT,ARMCX1,CLIP4,CRTAP,EFEMP2,ELOVL4,ETNK2, GALNT16,HSPB2,ISLR,LARP6,LDOC1,LRRN4CL,MITF, NAP1L3,NUDT10,RADIL,RAI2,RECK,SHISA4,SYNGR1 |
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 ETNK2 |
There's no related Drug. |
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Cross referenced IDs for ETNK2 |
* 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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