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| TissGeneSummary for SAG |
 Gene summary |
| Basic gene information | Gene symbol | SAG |
| Gene name | S-antigen; retina and pineal gland (arrestin) | |
| Synonyms | RP47|S-AG | |
| Cytomap | UCSC genome browser: 2q37.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000541.4, | |
| Description | 48 kDa proteinS-arrestinarrestin 1retinal S-antigen (48 KDa protein)rod photoreceptor arrestin | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 181031 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000130561 | ||
| HPRD : 01625 | ||
| Vega : OTTHUMG00000153213 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SAG | |
| BioGPS: 6295 | ||
| Pathway | NCI Pathway Interaction Database: SAG | |
| KEGG: SAG | ||
| REACTOME: SAG | ||
| Pathway Commons: SAG | ||
| Context | iHOP: SAG | |
| ligand binding site mutation search in PubMed: SAG | ||
| UCL Cancer Institute: SAG | ||
| 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) | TestisEye | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCTUVM | |
| Reference showing the relevant tissue of SAG | ||
| Description by TissGene annotations | ||
| * 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 SAG |
| 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) |
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| 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) |
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| 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. |
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| 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) |
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| - 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 |
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| TissGene-miRNA for SAG |
| 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 SAG |
| TissGeneSNV for SAG |
| 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. |
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| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.R175Q | SKCM | 3 |
| p.S10F | SKCM | 2 |
| p.G326R | SKCM | 2 |
| p.E318K | SKCM | 1 |
| p.V260I | STAD | 1 |
| p.E394K | CESC | 1 |
| p.K170N | READ | 1 |
| p.E392A | UCEC | 1 |
| p.G344R | SKCM | 1 |
| p.K180E | KIRC | 1 |
| p.D204G | LIHC | 1 |
| p.T105K | SARC | 1 |
| p.L55I | LUAD | 1 |
| p.G58R | SKCM | 1 |
| p.A184T | UCEC | 1 |
| p.V324I | STAD | 1 |
| p.A155V | KIRC | 1 |
| p.Q93* | SKCM | 1 |
| p.P225H | UCEC | 1 |
| p.Q137L | LUAD | 1 |
| p.A157T | LGG | 1 |
| p.V226L | LUAD | 1 |
| p.D76N | UCEC | 1 |
| p.D86N | HNSC | 1 |
| p.P192L | SKCM | 1 |
| p.S25L | STAD | 1 |
| p.R22Q | COAD | 1 |
| p.R118C | UCEC | 1 |
| p.A157T | ESCA | 1 |
| p.D197E | UCEC | 1 |
| p.S173F | KIRC | 1 |
| p.R294S | BLCA | 1 |
| p.R294K | SKCM | 1 |
| p.E370K | SKCM | 1 |
| p.K170N | LGG | 1 |
| p.A184S | COAD | 1 |
| p.V49M | STAD | 1 |
| p.R193* | PRAD | 1 |
| p.V245L | LUAD | 1 |
| p.P206T | OV | 1 |
| p.V153L | BRCA | 1 |
| p.P223L | SKCM | 1 |
| p.G81D | UCEC | 1 |
| p.R22L | LIHC | 1 |
| p.S21F | SKCM | 1 |
| p.V263M | STAD | 1 |
| p.R179H | PAAD | 1 |
| p.Q373H | UCEC | 1 |
| p.R193X | PRAD | 1 |
| p.P97L | SKCM | 1 |
| p.F379C | UCEC | 1 |
| p.G5R | SKCM | 1 |
| p.E152Q | BLCA | 1 |
| p.F200L | PRAD | 1 |
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| TissGeneCNV for SAG |
| 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 SAG |
| 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 | W27203 | SAG-SAG | chr2:234243699 | chr2:234243043 | |
| Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A8NI-01A | DGKD-SAG | Out-of-Frame | chr2:234299129 | chr2:234243607 |
| Chimerdb3.0 | FusionScan | LUAD | TCGA-91-8499-01A | DGKD-SAG | CDS-5'UTR | chr2:234299129 | chr2:234217807 |
| TCGAfusionPortal | PRADA | LUAD | TCGA-91-8499-01A | DGKD-SAG | CDS-5UTR | Chr2:234299129 | Chr2:234217808 |
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| TissGeneNet for SAG |
| 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) |
| BRCA (tumor) | BRCA (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| COAD (tumor) | COAD (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| HNSC (tumor) | HNSC (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| KICH (tumor) | KICH (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| KIRC (tumor) | KIRC (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| KIRP (tumor) | KIRP (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| LIHC (tumor) | LIHC (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| LUAD (tumor) | LUAD (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| LUSC (tumor) | LUSC (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| PRAD (tumor) | PRAD (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| STAD (tumor) | STAD (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| THCA (tumor) | THCA (normal) |
| SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (tumor) | SAG, ARRB2, ARRB1, ADRA1B, CHRM2, RHO (normal) |
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| TissGeneProg for SAG |
| 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. |
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| 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. |
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| 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. |
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| 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 SAG |
| TissGeneDrug for SAG |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for SAG |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C1306122 | Oguchi disease | 10 | BeFree,CLINVAR,CTD_human,ORPHANET |
| umls:C0035334 | Retinitis Pigmentosa | 4 | BeFree,CTD_human,LHGDN,ORPHANET |
| umls:C0028077 | Night Blindness | 3 | BeFree,GAD |
| umls:C0035309 | Retinal Diseases | 2 | GAD |
| umls:C0600327 | Toxic Shock Syndrome | 2 | BeFree |
| umls:C3714602 | Staphylococcal toxic shock syndrome | 2 | BeFree |
| umls:C0004943 | Behcet Syndrome | 1 | LHGDN |
| umls:C0007222 | Cardiovascular Diseases | 1 | BeFree |
| umls:C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | BeFree |
| umls:C0021390 | Inflammatory Bowel Diseases | 1 | GAD |
| umls:C0021400 | Influenza | 1 | BeFree |
| umls:C0022116 | Ischemia | 1 | BeFree |
| umls:C0026691 | Mucocutaneous Lymph Node Syndrome | 1 | BeFree |
| umls:C0031350 | Pharyngitis | 1 | BeFree |
| umls:C0041234 | Chagas Disease | 1 | BeFree |
| umls:C0042164 | Uveitis | 1 | CTD_human |
| umls:C0152026 | Retinal Vasculitis | 1 | BeFree |
| umls:C0206172 | Diabetic Foot | 1 | BeFree |
| umls:C0206719 | Central Neurocytoma | 1 | BeFree |
| umls:C0339526 | Autosomal recessive retinitis pigmentosa | 1 | BeFree |
| umls:C0339535 | Night blindness, congenital stationary | 1 | CTD_human,ORPHANET |
| umls:C0410808 | Prosthetic joint infection | 1 | BeFree |
| umls:C0699790 | Colon Carcinoma | 1 | BeFree |
| umls:C1456868 | Diabetic foot ulcer | 1 | BeFree |
| umls:C3495559 | Juvenile arthritis | 1 | BeFree |
| umls:C3714757 | Juvenile rheumatoid arthritis | 1 | BeFree |
| umls:C3151061 | RETINITIS PIGMENTOSA 47 | 0 | CLINVAR |
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