TissGeneSummary for SLC3A1 |
Gene summary |
Basic gene information | Gene symbol | SLC3A1 |
Gene name | solute carrier family 3 (amino acid transporter heavy chain), member 1 | |
Synonyms | ATR1|CSNU1|D2H|NBAT|RBAT | |
Cytomap | UCSC genome browser: 2p16.3 | |
Type of gene | protein-coding | |
RefGenes | NM_000341.3, | |
Description | B(0,+)-type amino acid transport proteinSLC3A1 variant BSLC3A1 variant CSLC3A1 variant DSLC3A1 variant ESLC3A1 variant FSLC3A1 variant Gamino acid transporter 1neutral and basic amino acid transport protein rBATsolute carrier family 3 (cystine, d | |
Modification date | 20141207 | |
dbXrefs | MIM : 104614 | |
HGNC : HGNC | ||
HPRD : 00090 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SLC3A1 | |
BioGPS: 6519 | ||
Pathway | NCI Pathway Interaction Database: SLC3A1 | |
KEGG: SLC3A1 | ||
REACTOME: SLC3A1 | ||
Pathway Commons: SLC3A1 | ||
Context | iHOP: SLC3A1 | |
ligand binding site mutation search in PubMed: SLC3A1 | ||
UCL Cancer Institute: SLC3A1 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Kidney | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICH | |
Reference showing the relevant tissue of SLC3A1 | ||
Description by TissGene annotations | Fused withTSGene |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID |
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TissGeneExp for SLC3A1 |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
LIHC | 0.371098382 | 3.679514382 | -3.308416 | 5.84E-08 | 4.35E-07 |
KICH | 4.008980382 | 7.712868382 | -3.703888 | 7.92E-07 | 3.03E-06 |
COAD | 2.150071152 | 3.808209613 | -1.658138462 | 0.000722 | 0.002146407 |
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TissGene-miRNA for SLC3A1 |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for SLC3A1 |
TissGeneSNV for SLC3A1 |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.R671* | ESCA | 1 |
p.M368I | GBM | 1 |
p.I157T | LUSC | 1 |
p.D359N | LGG | 1 |
p.M467V | KIRP | 1 |
p.D192Y | KIRP | 1 |
p.M381I | SKCM | 1 |
p.G23V | PAAD | 1 |
p.G260R | SARC | 1 |
p.S675F | HNSC | 1 |
p.G121W | LUAD | 1 |
p.F380C | THYM | 1 |
p.K306N | STAD | 1 |
p.G487E | BLCA | 1 |
p.N606S | COAD | 1 |
p.S684L | LUSC | 1 |
p.Y127* | PRAD | 1 |
p.Y498H | STAD | 1 |
p.H562Y | PRAD | 1 |
p.R301W | GBM | 1 |
p.R181W | COAD | 1 |
p.G446S | SKCM | 1 |
p.G121E | SKCM | 1 |
p.W161X | SKCM | 1 |
p.D210N | PAAD | 1 |
p.G50S | LUAD | 1 |
p.E87K | SKCM | 1 |
p.M395T | STAD | 1 |
p.L468F | STAD | 1 |
p.A492T | COAD | 1 |
p.T624I | LUAD | 1 |
p.G376D | THYM | 1 |
p.Y479* | BLCA | 1 |
p.L607I | LUAD | 1 |
p.E295* | UCEC | 1 |
p.R504H | STAD | 1 |
p.R456H | STAD | 1 |
p.N651I | ESCA | 1 |
p.S612L | SKCM | 1 |
p.R671Q | PAAD | 1 |
p.D554Y | COAD | 1 |
p.E483X | STAD | 1 |
p.W161* | SKCM | 1 |
p.D628N | HNSC | 1 |
p.A383T | SKCM | 1 |
p.G231E | SKCM | 1 |
p.E3Q | LUAD | 1 |
p.R229W | COAD | 1 |
p.G382R | PAAD | 1 |
p.F380C | MESO | 1 |
p.R301Q | THCA | 1 |
p.R671X | ESCA | 1 |
p.K333N | LUAD | 1 |
p.V394M | COAD | 1 |
p.D284Y | LUSC | 1 |
p.S168L | LUAD | 1 |
p.S420C | BLCA | 1 |
p.E483* | STAD | 1 |
p.G17E | ESCA | 1 |
p.E268K | READ | 1 |
p.I680M | KIRC | 1 |
p.E268K | SKCM | 1 |
p.G376D | BRCA | 1 |
p.M395I | THYM | 1 |
p.R288C | SKCM | 1 |
p.K167T | COAD | 1 |
p.I594M | PRAD | 1 |
p.L386F | BLCA | 1 |
p.N411D | UCEC | 1 |
p.A66V | PRAD | 1 |
p.N625D | UCEC | 1 |
p.P615S | LUAD | 1 |
p.R619K | SKCM | 1 |
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TissGeneCNV for SLC3A1 |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for SLC3A1 |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | ChiTaRs | NA | BP270725 | SLC3A1-ZNF341 | chr2:44507885 | chr20:32375318 | |
Chimerdb3.0 | ChiTaRs | NA | AI830739 | HIVEP3-SLC3A1 | chr1:42489017 | chr2:44545537 | |
Chimerdb3.0 | FusionScan | BRCA | TCGA-A2-A04U-01A | MSH2-SLC3A1 | In-Frame | chr2:47637511 | chr2:44539724 |
TCGAfusionPortal | PRADA | BRCA | TCGA-A2-A04U-01A | MSH2-SLC3A1 | In-frame | Chr2:47637511 | Chr2:44539725 |
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TissGeneNet for SLC3A1 |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for SLC3A1 |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for SLC3A1 |
TissGeneDrug for SLC3A1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB00138 | L-Cystine | Small molecule | Approved|Nutraceutical |
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TissGeneDisease for SLC3A1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0010691 | Cystinuria | 64 | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT |
umls:C1848030 | Hypotonia-Cystinuria Syndrome | 5 | BeFree,CTD_human,ORPHANET |
umls:C0020538 | Hypertensive disease | 2 | BeFree,GAD |
umls:C0022661 | Kidney Failure, Chronic | 2 | BeFree |
umls:C0030319 | Panic Disorder | 2 | BeFree |
umls:C1868649 | PANIC DISORDER 1 | 2 | BeFree |
umls:C0003469 | Anxiety Disorders | 1 | BeFree |
umls:C0007194 | Hypertrophic Cardiomyopathy | 1 | GAD |
umls:C0010054 | Coronary Arteriosclerosis | 1 | BeFree |
umls:C0017661 | IGA Glomerulonephritis | 1 | BeFree |
umls:C0017919 | Glycogen Storage Disease | 1 | GAD |
umls:C0085580 | Essential Hypertension | 1 | BeFree |
umls:C0238506 | Congenital posterior urethral valves | 1 | BeFree |
umls:C0268646 | Isolated cystinuria | 1 | BeFree |
umls:C0494165 | Secondary malignant neoplasm of liver | 1 | BeFree |
umls:C1857388 | Cystinuria, Type A | 1 | BeFree |