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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ECI1 |
Basic gene info. | Gene symbol | ECI1 |
Gene name | enoyl-CoA delta isomerase 1 | |
Synonyms | DCI | |
Cytomap | UCSC genome browser: 16p13.3 | |
Genomic location | chr16 :2289872-2301602 | |
Type of gene | protein-coding | |
RefGenes | NM_001178029.1, NM_001919.3, | |
Ensembl id | ENSG00000167969 | |
Description | 3,2 trans-enoyl-CoA isomerase3,2 trans-enoyl-Coenzyme A isomerase3,2-trans-enoyl-CoA isomerase, mitochondrialD3,D2-enoyl-CoA isomeraseacetylene-allene isomerasedelta(3),Delta(2)-enoyl-CoA isomerasedelta3, delta2-enoyl-CoA isomerasedodecenoyl-CoA de | |
Modification date | 20141207 | |
dbXrefs | MIM : 600305 | |
HGNC : HGNC | ||
Ensembl : ENSG00000167969 | ||
HPRD : 02628 | ||
Vega : OTTHUMG00000128830 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ECI1 | |
BioGPS: 1632 | ||
Gene Expression Atlas: ENSG00000167969 | ||
The Human Protein Atlas: ENSG00000167969 | ||
Pathway | NCI Pathway Interaction Database: ECI1 | |
KEGG: ECI1 | ||
REACTOME: ECI1 | ||
ConsensusPathDB | ||
Pathway Commons: ECI1 | ||
Metabolism | MetaCyc: ECI1 | |
HUMANCyc: ECI1 | ||
Regulation | Ensembl's Regulation: ENSG00000167969 | |
miRBase: chr16 :2,289,872-2,301,602 | ||
TargetScan: NM_001178029 | ||
cisRED: ENSG00000167969 | ||
Context | iHOP: ECI1 | |
cancer metabolism search in PubMed: ECI1 | ||
UCL Cancer Institute: ECI1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for ECI1(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: ECI1 |
Familial Cancer Database: ECI1 |
* 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_FATTY_ACID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: ECI1 |
MedGen: ECI1 (Human Medical Genetics with Condition) | |
ClinVar: ECI1 | |
Phenotype | MGI: ECI1 (International Mouse Phenotyping Consortium) |
PhenomicDB: ECI1 |
Mutations for ECI1 |
* 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 |
pancreas | ECI1 | chr16 | 2294362 | 2294382 | ECI1 | chr16 | 2295692 | 2295712 |
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 ECI1 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 |
BE388423 | MRPL4 | 8 | 598 | 19 | 10365262 | 10370405 | ECI1 | 599 | 654 | 16 | 2301515 | 2301572 |
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=14) | (# total SNVs=10) |
(# total SNVs=1) | (# 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 |
chr16:2301520-2301520 | p.R16R | 3 |
chr16:2296868-2296868 | p.L96L | 1 |
chr16:2289989-2289989 | p.E300D | 1 |
chr16:2293146-2293146 | p.A215T | 1 |
chr16:2296879-2296879 | p.R92H | 1 |
chr16:2290000-2290000 | p.L297F | 1 |
chr16:2293147-2293147 | p.P214P | 1 |
chr16:2296886-2296886 | p.S90C | 1 |
chr16:2290019-2290019 | p.L290L | 1 |
chr16:2293215-2293215 | p.T192A | 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 |   | 6 |   |   | 1 |   |   |   |   | 3 | 1 |   |   |   |   | 2 |   | 2 |
# mutation |   | 1 |   | 6 |   |   | 1 |   |   |   |   | 3 | 1 |   |   |   |   | 2 |   | 3 |
nonsynonymous SNV |   |   |   | 3 |   |   | 1 |   |   |   |   | 2 | 1 |   |   |   |   | 1 |   | 1 |
synonymous SNV |   | 1 |   | 3 |   |   |   |   |   |   |   | 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 |
chr16:2290000 | p.F260F,ECI1 | 1 |
chr16:2296861 | p.T245T,ECI1 | 1 |
chr16:2290058 | p.A198T,ECI1 | 1 |
chr16:2296868 | p.P197P,ECI1 | 1 |
chr16:2290103 | p.R187H,ECI1 | 1 |
chr16:2296886 | p.T175A,ECI1 | 1 |
chr16:2293146 | p.R164S,ECI1 | 1 |
chr16:2296965 | p.G148E,ECI1 | 1 |
chr16:2293147 | p.L133L,ECI1 | 1 |
chr16:2296982 | p.L131L,ECI1 | 1 |
Other DBs for Point Mutations |
Copy Number for ECI1 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 ECI1 |
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 |
TSR3,ECI1,E4F1,FAM173A,FAM195A,FLYWCH2,GFER, JMJD8,MLST8,MPG,MRPL28,MRPS34,NARFL,NDUFB10, NME3,NTHL1,NUBP2,STUB1,TBL3,TCEB2,ZNF205 | ATP5D,BCKDHA,CLPP,COX4I1,ECI1,ECSIT,FAM195A, HSF1,IDH3B,MRPL12,MRPL2,MRPL38,MRPL41,MRPS18A, NDUFA13,NDUFV1,POLR2I,PPP1R16A,THAP4,PAM16,TUFM | ||||
ATP5D,AURKAIP1,PTRHD1,COPE,COX4I1,ECI1,FAM195A, FAU,NAA38,MPG,MRPL41,MRPL54,MRPS34,NDUFB10, NUBP2,SCO2,SF3B5,STARD10,THAP3,TSPO,UQCRC1 | ALKBH7,MPC2,C15orf61,WDR83OS,RPP25L,CISD3,COX4I1, COX5B,ECI1,DUSP23,FAM98C,IMP3,MED11,NDUFA2, NDUFB10,SDHAF1,STK16,TEX264,TMEM134,TMEM219,ZNHIT1 |
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 ECI1 |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
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 |
DB02910 | enoyl-CoA delta isomerase 1 | experimental | Octanoyl-Coenzyme A | ||
DB03127 | enoyl-CoA delta isomerase 1 | experimental | Benzamidine |
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Cross referenced IDs for ECI1 |
* 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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