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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for SLC5A1 |
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Phenotypic Information for SLC5A1(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: SLC5A1 |
Familial Cancer Database: SLC5A1 |
* 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/ |
Metabolic Pathway Description | |
REACTOME_METABOLISM_OF_CARBOHYDRATES |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: SLC5A1 |
MedGen: SLC5A1 (Human Medical Genetics with Condition) | |
ClinVar: SLC5A1 | |
Phenotype | MGI: SLC5A1 (International Mouse Phenotyping Consortium) |
PhenomicDB: SLC5A1 |
Mutations for SLC5A1 |
* 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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
- 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'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
pancreas | SLC5A1 | chr22 | 32480345 | 32480365 | UFD1L | chr22 | 19448139 | 19448159 |
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) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows SLC5A1 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 |
AW135987 | SLC5A1 | 1 | 284 | 22 | 32466601 | 32466884 | SLC5A1 | 281 | 482 | 22 | 32466949 | 32467150 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
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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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=53) | (# total SNVs=25) |
(# total SNVs=0) | (# total SNVs=2) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* 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 |
chr22:32498215-32498215 | p.P552P | 3 |
chr22:32479091-32479091 | p.T205I | 3 |
chr22:32479101-32479101 | p.T208T | 2 |
chr22:32487756-32487756 | p.? | 2 |
chr22:32498033-32498033 | p.G492R | 2 |
chr22:32495186-32495186 | p.L433M | 2 |
chr22:32480452-32480452 | p.A231T | 2 |
chr22:32500780-32500780 | p.R558H | 2 |
chr22:32439275-32439275 | p.S3G | 2 |
chr22:32480543-32480543 | p.D261G | 2 |
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SNV Counts per Each Loci in TCGA data |
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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 | 4 | 1 | 1 | 5 |   |   | 5 |   | 2 |   |   | 12 | 7 |   |   | 1 | 11 | 3 | 1 | 11 |
# mutation | 4 | 1 | 1 | 5 |   |   | 5 |   | 2 |   |   | 10 | 7 |   |   | 1 | 13 | 3 | 1 | 10 |
nonsynonymous SNV | 1 |   | 1 | 2 |   |   | 4 |   | 2 |   |   | 6 | 4 |   |   | 1 | 9 | 2 |   | 9 |
synonymous SNV | 3 | 1 |   | 3 |   |   | 1 |   |   |   |   | 4 | 3 |   |   |   | 4 | 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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Top 10 SNVs Having the Most Samples in TCGA data |
* 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 |
chr22:32445951 | p.T78I,SLC5A1 | 2 |
chr22:32479091 | p.R431H,SLC5A1 | 2 |
chr22:32495249 | p.T81T,SLC5A1 | 2 |
chr22:32500780 | p.G53W | 2 |
chr22:32479101 | p.A104T,SLC5A1 | 2 |
chr22:32480452 | p.D327N,SLC5A1 | 2 |
chr22:32445936 | p.P425L,SLC5A1 | 1 |
chr22:32482280 | p.R24C | 1 |
chr22:32464543 | p.V232V,SLC5A1 | 1 |
chr22:32498104 | p.P425P,SLC5A1 | 1 |
Other DBs for Point Mutations |
Copy Number for SLC5A1 in TCGA |
* 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. |
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 SLC5A1 |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* 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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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* 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 |
APP,ATP1A1,CD58,CDH19,CEACAM1,CNGA1,CTNND1, EHF,FAM3D,KCTD14,LCN2,MANSC1,NIPAL1,NPAS2, PRR4,S100B,SLC43A3,SLC5A1,SLC6A14,SLPI,VTCN1 | APBA1,B3GNT3,B3GALT5-AS1,CHRM1,CHST9,CTNNB1,EGF, ELF5,FOLH1,GABRP,IGSF5,ITGA6,KIT,LOC286002, LOC286467,NALCN,RAB36,ROPN1,SLC13A2,SLC5A1,TGM5 | ||||
ACO2,ATP1A1,AZGP1,TEX43,ZC2HC1B,CCND3,CHDH, CLDN25,F11,HNF1B,HPS4,KCNN4,LIMK2,LNX1, RHAG,SEL1L3,SLC5A1,SLC6A18,TFCP2L1,TMEM63A,ZBTB18 | ABCG5,ABCG8,ALDOB,C17orf78,ERICH4,CCL25,CEACAM20, CRISP2,DHDH,DPEP1,ENPP7,FABP6,NLRP6,SLC28A1, SLC2A2,SLC5A1,SLC7A9,SP8,SPANXN3,TMEM |
Co-Expressed gene's Protein-protein interaction Network Plot |
* 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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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for SLC5A1 |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB01212 | solute carrier family 5 (sodium/glucose cotransporter), member 1 | approved | Ceftriaxone |
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Cross referenced IDs for SLC5A1 |
* 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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