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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ECHS1 |
Basic gene info. | Gene symbol | ECHS1 |
Gene name | enoyl CoA hydratase, short chain, 1, mitochondrial | |
Synonyms | SCEH | |
Cytomap | UCSC genome browser: 10q26.2-q26.3 | |
Genomic location | chr10 :135175986-135186908 | |
Type of gene | protein-coding | |
RefGenes | NM_004092.3, | |
Ensembl id | ENSG00000127884 | |
Description | enoyl Coenzyme A hydratase, short chain, 1, mitochondrialenoyl-CoA hydratase 1enoyl-CoA hydratase, mitochondrialshort-chain enoyl-CoA hydratase | |
Modification date | 20141207 | |
dbXrefs | MIM : 602292 | |
HGNC : HGNC | ||
Ensembl : ENSG00000127884 | ||
HPRD : 03799 | ||
Vega : OTTHUMG00000019320 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ECHS1 | |
BioGPS: 1892 | ||
Gene Expression Atlas: ENSG00000127884 | ||
The Human Protein Atlas: ENSG00000127884 | ||
Pathway | NCI Pathway Interaction Database: ECHS1 | |
KEGG: ECHS1 | ||
REACTOME: ECHS1 | ||
ConsensusPathDB | ||
Pathway Commons: ECHS1 | ||
Metabolism | MetaCyc: ECHS1 | |
HUMANCyc: ECHS1 | ||
Regulation | Ensembl's Regulation: ENSG00000127884 | |
miRBase: chr10 :135,175,986-135,186,908 | ||
TargetScan: NM_004092 | ||
cisRED: ENSG00000127884 | ||
Context | iHOP: ECHS1 | |
cancer metabolism search in PubMed: ECHS1 | ||
UCL Cancer Institute: ECHS1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for ECHS1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: ECHS1 |
Familial Cancer Database: ECHS1 |
* 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/ |
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KEGG_FATTY_ACID_METABOLISM KEGG_TRYPTOPHAN_METABOLISM KEGG_BETA_ALANINE_METABOLISM KEGG_PROPANOATE_METABOLISM KEGG_BUTANOATE_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: ECHS1 |
MedGen: ECHS1 (Human Medical Genetics with Condition) | |
ClinVar: ECHS1 | |
Phenotype | MGI: ECHS1 (International Mouse Phenotyping Consortium) |
PhenomicDB: ECHS1 |
Mutations for ECHS1 |
* 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. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ECHS1 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 |
CV337393 | JUP | 4 | 338 | 17 | 39767336 | 39767921 | ECHS1 | 335 | 398 | 10 | 135176370 | 135176434 | |
AW518107 | ENOX1 | 63 | 86 | 13 | 43912369 | 43912392 | ECHS1 | 75 | 310 | 10 | 135176248 | 135178227 | |
H39530 | ECHS1 | 2 | 82 | 10 | 135184127 | 135184208 | ECHS1 | 79 | 468 | 10 | 135176320 | 135180474 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 1 | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
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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Stat. for Non-Synonymous SNVs (# total SNVs=30) | (# total SNVs=9) |
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(# total SNVs=0) | (# total SNVs=1) |
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* 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 |
chr10:135186806-135186806 | p.V11A | 14 |
chr10:135179506-135179506 | p.A238E | 2 |
chr10:135184209-135184209 | p.V47V | 2 |
chr10:135179586-135179586 | p.K211K | 2 |
chr10:135184099-135184099 | p.A84V | 2 |
chr10:135178224-135178224 | p.E249* | 1 |
chr10:135180499-135180499 | p.? | 1 |
chr10:135184102-135184102 | p.G83E | 1 |
chr10:135182453-135182453 | p.P163L | 1 |
chr10:135184121-135184121 | p.E77K | 1 |
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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 |   | 2 | 1 |   | 2 |   | 2 |   |   | 1 | 1 |   |   |   | 4 | 1 |   | 4 |
# mutation |   | 1 |   | 2 | 1 |   | 2 |   | 2 |   |   | 1 | 1 |   |   |   | 4 | 1 |   | 5 |
nonsynonymous SNV |   |   |   | 1 | 1 |   | 2 |   | 2 |   |   | 1 | 1 |   |   |   | 2 | 1 |   | 3 |
synonymous SNV |   | 1 |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   | 2 |   |   | 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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* 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 |
chr10:135179506 | p.A238E | 2 |
chr10:135179550 | p.G195S | 1 |
chr10:135184121 | p.E156E | 1 |
chr10:135179586 | p.Y153C | 1 |
chr10:135184164 | p.G140G | 1 |
chr10:135180429 | p.A138V | 1 |
chr10:135184202 | p.F108C | 1 |
chr10:135182473 | p.M103I | 1 |
chr10:135184238 | p.A84V | 1 |
chr10:135182483 | p.K282N | 1 |
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* 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. |
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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 ECHS1 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* 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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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* 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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AP2S1,AURKAIP1,UQCC3,C14orf2,CHCHD1,CUEDC2,DPCD, ECHS1,EDF1,MGMT,MRPL43,MRPS34,MTG1,NDUFB8, PAOX,PARK7,PPP2R2D,RNF181,TUBGCP2,USMG5,ZNF511 | ABHD15,ACAA2,ACACB,ACOT1,ACOT2,ACSL1,ACSS2, AQP7,BOK,CIDEC,DECR1,DGAT1,HOGA1,ECHS1, FGFRL1,LGALS12,MLXIPL,MARC1,MARC2,PECR,PNPLA2 | ||||
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ATP5D,ATPIF1,AURKAIP1,C14orf2,C1QBP,COX8A,ECHS1, EIF5A,GOT1,MCAT,MRPL16,NDUFB8,NDUFS3,NUDT8, PCCB,PPP2R2D,RNMTL1,SDHB,TXN2,UQCRC1,ZNF511 | ACADS,ACSF2,SUGCT,CEBPA,COQ4,COX5A,DECR1, DOLPP1,ECHS1,ESRRA,ETFDH,GJB1,HADH,HDHD3, LPCAT3,MGST3,PITX2,RAB20,RPP25,SLC27A4,TACO1 |
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* 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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Pharmacological Information for ECHS1 |
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DB Category | DB Name | DB's ID and Url link |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00123 | enoyl CoA hydratase, short chain, 1, mitochondrial | approved; nutraceutical | L-Lysine | ![]() | ![]() |
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Cross referenced IDs for ECHS1 |
* 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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