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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for DSE |
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Phenotypic Information for DSE(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: DSE |
Familial Cancer Database: DSE |
* This gene is included in those cancer gene databases. |
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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_METABOLISM_OF_CARBOHYDRATES |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: DSE |
MedGen: DSE (Human Medical Genetics with Condition) | |
ClinVar: DSE | |
Phenotype | MGI: DSE (International Mouse Phenotyping Consortium) |
PhenomicDB: DSE |
Mutations for DSE |
* 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 |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
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- 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 |
ovary | DSE | chr6 | 116628915 | 116628935 | NT5DC1 | chr6 | 116468060 | 116468080 |
pancreas | DSE | chr6 | 116617548 | 116617748 | DSE | chr6 | 116615114 | 116615314 |
pancreas | DSE | chr6 | 116750820 | 116750840 | DSE | chr6 | 116751140 | 116751160 |
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 DSE 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 |
BF577271 | MYL2 | 2 | 377 | 12 | 111351075 | 111358383 | DSE | 373 | 649 | 6 | 116598255 | 116598542 | |
BQ028298 | DSE | 9 | 263 | 6 | 116757992 | 116758246 | LOC100130987 | 263 | 321 | 11 | 67120879 | 67120937 | |
BQ340167 | ELOVL7 | 10 | 113 | 5 | 60128753 | 60128856 | DSE | 109 | 191 | 6 | 116599271 | 116599354 | |
AA557756 | DSE | 7 | 235 | 6 | 116599216 | 116599444 | DSE | 232 | 369 | 6 | 116599435 | 116599572 | |
BF959216 | DSE | 2 | 101 | 6 | 116599260 | 116599359 | DSE | 96 | 260 | 6 | 116599103 | 116599267 | |
M62263 | DSE | 1 | 180 | 6 | 116596548 | 116596727 | CSNK1E | 180 | 295 | 22 | 38689413 | 38689528 |
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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 | 4 | 1 |   |   |   |   | 1 |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) | 4 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
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=70) | (# total SNVs=25) |
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(# total SNVs=3) | (# 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 |
chr6:116757777-116757777 | p.R716C | 3 |
chr6:116747852-116747852 | p.L178I | 3 |
chr6:116752203-116752203 | p.G253C | 3 |
chr6:116757959-116757959 | p.R776R | 2 |
chr6:116757070-116757070 | p.F480S | 2 |
chr6:116757438-116757438 | p.H603Y | 2 |
chr6:116757259-116757259 | p.G543E | 2 |
chr6:116756873-116756873 | p.F414F | 2 |
chr6:116720492-116720492 | p.E27K | 2 |
chr6:116757537-116757537 | p.P636S | 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 | 1 | 10 | 2 | 12 | 2 |   |   |   | 2 |   |   | 16 | 4 |   |   |   | 18 | 7 | 1 | 15 |
# mutation | 1 | 10 | 2 | 12 | 2 |   |   |   | 2 |   |   | 16 | 4 |   |   |   | 23 | 7 | 1 | 22 |
nonsynonymous SNV | 1 | 8 | 1 | 9 | 2 |   |   |   | 1 |   |   | 13 | 3 |   |   |   | 17 | 6 | 1 | 17 |
synonymous SNV |   | 2 | 1 | 3 |   |   |   |   | 1 |   |   | 3 | 1 |   |   |   | 6 | 1 |   | 5 |
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 |
chr6:116747852 | p.L178I,DSE | 3 |
chr6:116756758 | p.R776R,DSE | 2 |
chr6:116757959 | p.G376D,DSE | 2 |
chr6:116756873 | p.R716C,DSE | 2 |
chr6:116757777 | p.F414F,DSE | 2 |
chr6:116720421 | p.R763Q,DSE | 1 |
chr6:116752286 | p.S897F,DSE | 1 |
chr6:116757448 | p.R123Q,DSE | 1 |
chr6:116758416 | p.G253S,DSE | 1 |
chr6:116720740 | p.G474E,DSE | 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 DSE |
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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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ADAMTS2,ANTXR2,ARSB,CLMP,AXL,BICC1,DPYSL3, DSE,FAM26E,FBN1,FSTL1,HEG1,LATS2,LHFPL2, LOX,MXRA5,PLXNC1,RECK,TIMP2,VCAN,ZEB2 | ABCA8,APOL6,C2CD2,CELF2,DOCK11,DSE,EPB41L2, EPS8,FAM26E,GPR116,LAMC1,MAN1A1,NRP1,PCOLCE2, PCSK5,PVRL3,SESTD1,SH3D19,TACC1,TLR4,ZEB2 |
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C3AR1,CD86,CSF1R,DCN,DSE,FAM26E,FCGR1C, HCK,LAPTM5,LILRB2,LY96,MS4A4A,MS4A6A,MSR1, PDCD1LG2,PLEKHO2,SRGN,TYROBP,VCAN,WISP1,ZEB2 | ACSL4,BRMS1L,CDADC1,DDX50,DNAJC24,DSE,DTWD1, GNB4,HIAT1,IGFBP7,IRAK1BP1,MSANTD4,LOC339524,MAD2L2, NBN,POT1,PPT1,RIPK2,SGTB,SLFN11,ZNF239 |
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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 DSE |
There's no related Drug. |
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Cross referenced IDs for DSE |
* 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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