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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CKMT1A |
Basic gene info. | Gene symbol | CKMT1A |
Gene name | creatine kinase, mitochondrial 1A | |
Synonyms | CKMT1 | |
Cytomap | UCSC genome browser: 15q15 | |
Genomic location | chr15 :43985083-43991420 | |
Type of gene | protein-coding | |
RefGenes | NM_001015001.1, | |
Ensembl id | ENSG00000223572 | |
Description | U-MtCKacidic-type mitochondrial creatine kinasecreatine kinase U-type, mitochondrialcreatine kinase, mitochondrial 1 (ubiquitous)mia-CKubiquitous mitochondrial creatine kinase | |
Modification date | 20141207 | |
dbXrefs | MIM : 613415 | |
HGNC : HGNC | ||
Ensembl : ENSG00000223572 | ||
HPRD : 18683 | ||
Vega : OTTHUMG00000059898 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CKMT1A | |
BioGPS: 548596 | ||
Gene Expression Atlas: ENSG00000223572 | ||
The Human Protein Atlas: ENSG00000223572 | ||
Pathway | NCI Pathway Interaction Database: CKMT1A | |
KEGG: CKMT1A | ||
REACTOME: CKMT1A | ||
ConsensusPathDB | ||
Pathway Commons: CKMT1A | ||
Metabolism | MetaCyc: CKMT1A | |
HUMANCyc: CKMT1A | ||
Regulation | Ensembl's Regulation: ENSG00000223572 | |
miRBase: chr15 :43,985,083-43,991,420 | ||
TargetScan: NM_001015001 | ||
cisRED: ENSG00000223572 | ||
Context | iHOP: CKMT1A | |
cancer metabolism search in PubMed: CKMT1A | ||
UCL Cancer Institute: CKMT1A | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for CKMT1A(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: CKMT1A |
Familial Cancer Database: CKMT1A |
* 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_ARGININE_AND_PROLINE_METABOLISM REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: CKMT1A |
MedGen: CKMT1A (Human Medical Genetics with Condition) | |
ClinVar: CKMT1A | |
Phenotype | MGI: CKMT1A (International Mouse Phenotyping Consortium) |
PhenomicDB: CKMT1A |
Mutations for CKMT1A |
* 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 CKMT1A 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 |
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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 |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
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=10) | (# total SNVs=5) |
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(# total SNVs=0) | (# total SNVs=0) |
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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 |
chr15:43991225-43991225 | p.R398W | 3 |
chr15:43991229-43991229 | p.R399H | 3 |
chr15:43991242-43991242 | p.G403G | 1 |
chr15:43990869-43990869 | p.L348I | 1 |
chr15:43991269-43991269 | p.V412V | 1 |
chr15:43990885-43990885 | p.R353H | 1 |
chr15:43990917-43990917 | p.G364S | 1 |
chr15:43990929-43990929 | p.D368H | 1 |
chr15:43990941-43990941 | p.L372L | 1 |
chr15:43988294-43988294 | p.R242* | 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 |   |   |   |   | 3 |   |   |   |   |   |   | 2 | 1 |   |   |   | 3 | 3 |   | 2 |
# mutation |   |   |   |   | 2 |   |   |   |   |   |   | 2 | 1 |   |   |   | 3 | 3 |   | 3 |
nonsynonymous SNV |   |   |   |   | 2 |   |   |   |   |   |   | 2 |   |   |   |   | 1 | 3 |   |   |
synonymous SNV |   |   |   |   |   |   |   |   |   |   |   |   | 1 |   |   |   | 2 |   |   | 3 |
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 |
chr15:43991225 | p.R398W | 3 |
chr15:43990917 | p.R309H | 1 |
chr15:43990920 | p.I313I | 1 |
chr15:43990941 | p.R340H | 1 |
chr15:43990946 | p.G364S | 1 |
chr15:43991208 | p.G365C | 1 |
chr15:43988299 | p.L372L | 1 |
chr15:43988498 | p.D373D | 1 |
chr15:43991229 | p.Y392C | 1 |
chr15:43988539 | p.R399H | 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 CKMT1A |
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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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AIFM1,AP3B2,APLP1,ASPHD1,ATP5B,CHRNB2,CKMT1A, CKMT1B,CPLX2,ELL3,FAM155B,LRTM2,PPFIA3,RUNDC3A, SNAP25,SYP,SYT4,TMEM145,TMEM151A,TMEM198,UNC13A | C10orf2,C16orf59,SAPCD2,CKMT1A,CRABP1,DKC1,DTNB, ELL3,HPDL,IPO4,KCNN4,MANEAL,MCM2,TONSL, PODXL2,PRSS8,PTK7,SMARCA4,TMEM97,TRAF4,UBE2Z | ||||
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AKR7A3,ALDOA,CHCHD10,RHOV___CHP1,CKMT1A,CKMT1B,CLDN7, COX5A,CYB561D2,EIF5AL1,ABHD17C,GMPPB,GSR,GSTM2P1, LOC344967,PGAM4,PIGR,SNORA25,TMEM189-UBE2V1,TTLL12,UQCRC1 | ABHD2,AIM1,APOBR,ARNTL,ACKR2___ACKR4,CCNK,CKMT1A, DLG3,FAM120A,FOXE3,HNRNPAB,LETM1,MYO1E,PATL1, PKP2,PTBP3,TMEM164,TMEM170A,TRIM24,VTI1A,ZDHHC5 |
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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 CKMT1A |
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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 |
DB00148 | creatine kinase, mitochondrial 1A | approved; nutraceutical | Creatine | ![]() | ![]() |
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Cross referenced IDs for CKMT1A |
* 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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