|
Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for SLC6A8 |
Basic gene info. | Gene symbol | SLC6A8 |
Gene name | solute carrier family 6 (neurotransmitter transporter), member 8 | |
Synonyms | CCDS1|CRT|CRTR|CT1|CTR5 | |
Cytomap | UCSC genome browser: Xq28 | |
Genomic location | chrX :152954965-152962048 | |
Type of gene | protein-coding | |
RefGenes | NM_001142805.1, NM_001142806.1,NM_005629.3, | |
Ensembl id | ENSG00000268982 | |
Description | creatine transporter 1creatine transporter SLC6A8 variant Dsodium- and chloride-dependent creatine transporter 1solute carrier family 6 (neurotransmitter transporter, creatine), member 8solute carrier family 6 member 8 | |
Modification date | 20141219 | |
dbXrefs | MIM : 300036 | |
HGNC : HGNC | ||
Ensembl : ENSG00000130821 | ||
HPRD : 02073 | ||
Vega : OTTHUMG00000024208 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SLC6A8 | |
BioGPS: 6535 | ||
Gene Expression Atlas: ENSG00000268982 | ||
The Human Protein Atlas: ENSG00000268982 | ||
Pathway | NCI Pathway Interaction Database: SLC6A8 | |
KEGG: SLC6A8 | ||
REACTOME: SLC6A8 | ||
ConsensusPathDB | ||
Pathway Commons: SLC6A8 | ||
Metabolism | MetaCyc: SLC6A8 | |
HUMANCyc: SLC6A8 | ||
Regulation | Ensembl's Regulation: ENSG00000268982 | |
miRBase: chrX :152,954,965-152,962,048 | ||
TargetScan: NM_001142805 | ||
cisRED: ENSG00000268982 | ||
Context | iHOP: SLC6A8 | |
cancer metabolism search in PubMed: SLC6A8 | ||
UCL Cancer Institute: SLC6A8 | ||
Assigned class in ccmGDB | C |
Top |
Phenotypic Information for SLC6A8(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: SLC6A8 |
Familial Cancer Database: SLC6A8 |
* 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/ |
Metabolic Pathway Description | |
REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: SLC6A8 |
MedGen: SLC6A8 (Human Medical Genetics with Condition) | |
ClinVar: SLC6A8 | |
Phenotype | MGI: SLC6A8 (International Mouse Phenotyping Consortium) |
PhenomicDB: SLC6A8 |
Mutations for SLC6A8 |
* 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 |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows SLC6A8 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 |
Other DBs for Structural Variants |
Top |
Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
Top |
SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
|
Top |
Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=32) | (# total SNVs=8) |
(# total SNVs=0) | (# total SNVs=1) |
Top |
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 |
chr23:152958537-152958537 | p.V273V | 3 |
chr23:152958731-152958731 | p.A309E | 3 |
chr23:152960320-152960320 | p.L581L | 2 |
chr23:152960192-152960192 | p.V539I | 2 |
chr23:152958730-152958730 | p.A309T | 2 |
chr23:152958790-152958790 | p.S329C | 1 |
chr23:152956789-152956789 | p.F142Y | 1 |
chr23:152959803-152959803 | p.G466V | 1 |
chr23:152958551-152958551 | p.R278H | 1 |
chr23:152960547-152960547 | p.Q596* | 1 |
Top |
SNV Counts per Each Loci in TCGA data |
|
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 |   |   | 2 |   | 3 |   |   | 6 | 1 | 1 |   |   | 4 | 2 | 1 | 5 |
# mutation | 2 |   |   | 3 |   |   | 2 |   | 3 |   |   | 6 | 1 | 1 |   |   | 4 | 2 | 1 | 6 |
nonsynonymous SNV | 1 |   |   | 2 |   |   | 1 |   | 2 |   |   | 4 | 1 |   |   |   | 3 | 1 | 1 | 5 |
synonymous SNV | 1 |   |   | 1 |   |   | 1 |   | 1 |   |   | 2 |   | 1 |   |   | 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]) |
Top |
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 |
chrX:152958790 | p.R278H,SLC6A8 | 1 |
chrX:152960179 | p.R504Q,SLC6A8 | 1 |
chrX:152957439 | p.A285A,SLC6A8 | 1 |
chrX:152958817 | p.I524M,SLC6A8 | 1 |
chrX:152960208 | p.G288V,SLC6A8 | 1 |
chrX:152957459 | p.P534L,SLC6A8 | 1 |
chrX:152958983 | p.L293F,SLC6A8 | 1 |
chrX:152957540 | p.G36S,SLC6A8 | 1 |
chrX:152959593 | p.L293L,SLC6A8 | 1 |
chrX:152954135 | p.R46R,SLC6A8 | 1 |
Other DBs for Point Mutations |
Copy Number for SLC6A8 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] |
Top |
Gene Expression for SLC6A8 |
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)) |
Top |
CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
Top |
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 |
ABCD1,BCAP31,DKC1,ECE2,EMD,ENO1,FAM127B, FAM58A,HAUS7,IDH3G,IRAK1,NAA10,PCBP4,PLXNB3, POLR2F,SLC10A3,SLC6A8,SRM,TUBA1C,TUBA4A,UBL4A | ACAT1,ACO2,ADHFE1,ATP5G3,CHCHD3,CS,DLD, DLST,ETFDH,GPT2,HSPB6,KIAA0408,NDUFV3,PDHA1, GATB,PGM1,PLIN5,RNF157,SLC2A4,SLC6A8,TBX15 | ||||
ADM,ALDOA,B3GALT5,BMP2,BTNL8,CA9,CEACAM20, DMBX1,DNM2,EGLN3,LIMA1,MALL,MUC17,NDRG1, PTPRH,SDCBP2,SLC6A10P,SLC6A8,SLC9A1,SLC9A3R1,TMEM92 | ABCG1,ARHGEF18,CHMP4B,COL17A1,EGLN3,ENTPD8,IFNGR2, IGSF3,LRP10,NSFL1C,OTOP3,PTPRH,PTTG1IP,SLC16A3, SLC6A10P,SLC6A8,SRC,TMEM127,TNIP1,TOM1,ZER1 |
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 |
Top |
Interacting Genes (from Pathway Commons) |
Top |
Pharmacological Information for SLC6A8 |
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 |
DB00148 | solute carrier family 6 (neurotransmitter transporter, creatine), member 8 | approved; nutraceutical | Creatine | ||
DB00515 | solute carrier family 6 (neurotransmitter transporter, creatine), member 8 | approved | Cisplatin |
Top |
Cross referenced IDs for SLC6A8 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
Copyright © 2016-Present - The Univsersity of Texas Health Science Center at Houston @ |