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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CPT1C |
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Phenotypic Information for CPT1C(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: CPT1C |
Familial Cancer Database: CPT1C |
* 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 |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: CPT1C |
MedGen: CPT1C (Human Medical Genetics with Condition) | |
ClinVar: CPT1C | |
Phenotype | MGI: CPT1C (International Mouse Phenotyping Consortium) |
PhenomicDB: CPT1C |
Mutations for CPT1C |
* 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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- Statistics for Tissue and Mutation type | Top |
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- 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'. |
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Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
pancreas | CPT1C | chr19 | 50214436 | 50214636 | AP2A1 | chr19 | 50279084 | 50279284 |
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) |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows CPT1C 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) |   |   |   |   |   |   |   |   | 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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Stat. for Non-Synonymous SNVs (# total SNVs=71) | (# total SNVs=27) |
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(# total SNVs=1) | (# 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 |
chr19:50216078-50216078 | p.Y702C | 3 |
chr19:50208536-50208536 | p.R315R | 2 |
chr19:50210832-50210832 | p.S467S | 2 |
chr19:50208555-50208555 | p.D322N | 2 |
chr19:50200582-50200582 | p.? | 2 |
chr19:50208484-50208484 | p.G298E | 2 |
chr19:50214062-50214062 | p.C605Y | 2 |
chr19:50209498-50209498 | p.A391T | 2 |
chr19:50208489-50208489 | p.R300C | 2 |
chr19:50212045-50212045 | p.P505P | 2 |
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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 | 2 | 3 | 1 | 9 | 1 |   | 9 |   | 1 | 1 |   | 10 | 6 | 2 |   | 1 | 17 | 10 | 1 | 12 |
# mutation | 2 | 3 | 1 | 9 | 1 |   | 9 |   | 1 | 1 |   | 10 | 6 | 2 |   | 1 | 24 | 11 | 1 | 17 |
nonsynonymous SNV | 2 | 3 |   | 8 | 1 |   | 5 |   |   |   |   | 9 | 5 | 2 |   | 1 | 13 | 8 | 1 | 11 |
synonymous SNV |   |   | 1 | 1 |   |   | 4 |   | 1 | 1 |   | 1 | 1 |   |   |   | 11 | 3 |   | 6 |
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 |
chr19:50208532 | p.P247L,CPT1C | 2 |
chr19:50210827 | p.L466I,CPT1C | 2 |
chr19:50212045 | p.P505P,CPT1C | 2 |
chr19:50208013 | p.T314M,CPT1C | 2 |
chr19:50209290 | p.G318E,CPT1C | 1 |
chr19:50214064 | p.S432L,CPT1C | 1 |
chr19:50204612 | p.S549S,CPT1C | 1 |
chr19:50208286 | p.F762L,CPT1C | 1 |
chr19:50210786 | p.F64F,CPT1C | 1 |
chr19:50216759 | p.V262I,CPT1C | 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 CPT1C |
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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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C12orf77,LINC01548,C7orf61,CCDC105,CNPY1,CPT1C,FAM150A, FGF17,GABRA4,GAL3ST3,LIPK,LOC283731,LOC728392,MEGF11, MGC16703,NXF4,PLB1,PRH2,SLC7A14,TGM6,TRIM46 | ABI3,BAX,ADM5,CPT1C,DOK4,FAM109B,IFI27L2, IGFBP4,KCTD17,LEPREL2,LPCAT4,MAPK7,NAALADL1,PLEKHA4, PLSCR3,SCARF2,SLC39A13,TIMP1,TMEM39B,TNFRSF6B,TRIM47 |
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ASTN1,ATP2B2,PIANP,CACNA2D3,CPT1C,CRMP1,FLG, HPCAL4,IGLON5,JPH4,KCNT2,LRRC4B,LRRC4C,NKAIN4, RGAG4,SHANK1,SLC17A7,SLITRK2,SSTR2,TCEAL5,TMEM59L | ADRA1A,BRSK2,CDH6,CPT1C,CRIP2,DCLK1,EBF3, FKBP10,HTRA1,IGFBP4,LDOC1,MAP1B,MAP2,MXRA8, NAV3,PCDH10,PRAF2,PTGIR,PTGIS,TMTC1,WTIP |
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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 CPT1C |
There's no related Drug. |
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Cross referenced IDs for CPT1C |
* 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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