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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CEPT1 |
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Phenotypic Information for CEPT1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: CEPT1 |
Familial Cancer Database: CEPT1 |
* 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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REACTOME_PHOSPHOLIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: CEPT1 |
MedGen: CEPT1 (Human Medical Genetics with Condition) | |
ClinVar: CEPT1 | |
Phenotype | MGI: CEPT1 (International Mouse Phenotyping Consortium) |
PhenomicDB: CEPT1 |
Mutations for CEPT1 |
* 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 CEPT1 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 |   |   | 1 |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   |   |   | 1 |   |   | 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=20) | (# total SNVs=6) |
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(# total SNVs=2) | (# 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 |
chr1:111725420-111725420 | p.? | 2 |
chr1:111690407-111690407 | p.H24R | 2 |
chr1:111703836-111703836 | p.C185fs*26 | 2 |
chr1:111726146-111726146 | p.L356L | 2 |
chr1:111726868-111726868 | p.A396V | 2 |
chr1:111690405-111690405 | p.G23G | 1 |
chr1:111703835-111703836 | p.C185fs*28 | 1 |
chr1:111725424-111725424 | p.T284A | 1 |
chr1:111690419-111690419 | p.T28I | 1 |
chr1:111703876-111703876 | p.A196V | 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 |   | 3 |   |   |   |   | 1 |   |   | 2 |   | 1 |   |   | 3 | 2 | 1 | 5 |
# mutation |   | 1 |   | 3 |   |   |   |   | 1 |   |   | 2 |   | 1 |   |   | 3 | 2 | 1 | 5 |
nonsynonymous SNV |   | 1 |   | 2 |   |   |   |   |   |   |   | 2 |   |   |   |   | 3 | 2 | 1 | 5 |
synonymous SNV |   |   |   | 1 |   |   |   |   | 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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* 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 |
chr1:111726868 | p.A396V,CEPT1 | 2 |
chr1:111702063 | p.A196V,CEPT1 | 1 |
chr1:111725439 | p.M246L,CEPT1 | 1 |
chr1:111702097 | p.I248T,CEPT1 | 1 |
chr1:111726093 | p.T258I,CEPT1 | 1 |
chr1:111702135 | p.R267C,CEPT1 | 1 |
chr1:111726101 | p.G273R,CEPT1 | 1 |
chr1:111703829 | p.T284A,CEPT1 | 1 |
chr1:111726191 | p.P289S,CEPT1 | 1 |
chr1:111703876 | p.M339V,CEPT1 | 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 CEPT1 |
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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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AHCYL1,ATP5F1,LRIF1,CAPZA1,CEPT1,CLCC1,CSDE1, DBT,DDX20,DENND2D,DRAM2,MIER1,PRPF38B,RAP1A, SIKE1,SLC25A24,SLC30A7,STXBP3,TMED5,TMEM167B,USP24 | ABHD5,ADH5,ANO6,ARL6IP1,AZI2,CCDC50,CD302, CEPT1,COL4A3BP,CRLS1,DRAM2,EIF4EBP2,EPB41L4B,FAM13A, FOXN2,GHR,GNAI1,GPR180,PPP2R5A,PTEN,PTENP1 | ||||
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ABCD3,AHCYL1,ATP5F1,BCAS2,C1orf52,CAPZA1,TRMT13, CEPT1,DBT,DRAM2,LAMTOR5,NRAS,PIGK,RPAP2, RPF1,RPL5,SEP15,SIKE1,STXBP3,TM2D1,TMED5 | RBM48,CEPT1,CNOT8,CTBS,DRAM2,EBAG9,FAM60A, GCA,MCTS1,METTL9,ORMDL1,PIGF,PPID,SEC11A, SUMO1,SVIP,TBPL1,TM2D2,TXNDC12,ZDHHC6,ZNF799 |
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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 CEPT1 |
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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 |
DB00171 | choline/ethanolamine phosphotransferase 1 | approved; nutraceutical | Adenosine triphosphate | ![]() | ![]() |
DB00122 | choline/ethanolamine phosphotransferase 1 | approved; nutraceutical | Choline | ![]() | ![]() |
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Cross referenced IDs for CEPT1 |
* 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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