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| TissGeneSummary for PRPH2 |
 Gene summary |
| Basic gene information | Gene symbol | PRPH2 |
| Gene name | peripherin 2 (retinal degeneration, slow) | |
| Synonyms | AOFMD|AVMD|CACD2|DS|MDBS1|PRPH|RDS|RP7|TSPAN22|rd2 | |
| Cytomap | UCSC genome browser: 6p21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000322.4, | |
| Description | peripherin 2, homolog of mouseperipherin, photoreceptor typeperipherin-2retinal degeneration slow proteinretinal peripherintetraspanin-22tspan-22 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 179605 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112619 | ||
| HPRD : 01553 | ||
| Vega : OTTHUMG00000014701 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PRPH2 | |
| BioGPS: 5961 | ||
| Pathway | NCI Pathway Interaction Database: PRPH2 | |
| KEGG: PRPH2 | ||
| REACTOME: PRPH2 | ||
| Pathway Commons: PRPH2 | ||
| Context | iHOP: PRPH2 | |
| ligand binding site mutation search in PubMed: PRPH2 | ||
| UCL Cancer Institute: PRPH2 | ||
| 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 PRPH2 | ||
| 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 PRPH2 |
| 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 |
| COAD | -1.571209652 | -0.409944268 | -1.161265385 | 2.07E-05 | 8.77E-05 |
| PRAD | -1.230778883 | 0.15122304 | -1.382001923 | 1.40E-10 | 2.96E-09 |
| KIRC | -1.617212644 | 0.240163745 | -1.857376389 | 2.20E-19 | 1.63E-18 |
| KIRP | -1.574371671 | 0.068572079 | -1.64294375 | 0.000159 | 0.000518891 |
| THCA | -0.346894659 | 1.009183307 | -1.356077966 | 3.68E-05 | 0.000108345 |
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| TissGene-miRNA for PRPH2 |
| 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 |
| LUAD | hsa-miR-29a-3p | MIMAT0000086 | 0.04 | -0.27 | 60 |
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| TissGeneMut for PRPH2 |
| TissGeneSNV for PRPH2 |
| 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.E44K | SKCM | 2 |
| p.E309K | SKCM | 1 |
| p.G282E | SKCM | 1 |
| p.T280P | UCEC | 1 |
| p.G19R | SKCM | 1 |
| p.K153N | BLCA | 1 |
| p.L45F | DLBC | 1 |
| p.V277G | DLBC | 1 |
| p.D157Y | ACC | 1 |
| p.R284H | UCEC | 1 |
| p.K153R | LIHC | 1 |
| p.H233N | LUAD | 1 |
| p.W246* | LUAD | 1 |
| p.A89D | PRAD | 1 |
| p.R123W | SKCM | 1 |
| p.R46Q | UCEC | 1 |
| p.D157N | COAD | 1 |
| p.L134I | BLCA | 1 |
| p.R183H | THYM | 1 |
| p.Q226H | STAD | 1 |
| p.R195G | CESC | 1 |
| p.R284C | STAD | 1 |
| p.L64F | BLCA | 1 |
| p.Q160H | READ | 1 |
| p.N168K | SKCM | 1 |
| p.Y184C | OV | 1 |
| p.K154N | OV | 1 |
| p.R284C | HNSC | 1 |
| p.A92T | PCPG | 1 |
| p.P100S | STAD | 1 |
| p.E162K | UCEC | 1 |
| p.E321D | READ | 1 |
| p.K7T | STAD | 1 |
| p.N62K | LIHC | 1 |
| p.F26L | UCEC | 1 |
| p.L20I | DLBC | 1 |
| p.R195Q | UCEC | 1 |
| p.V209I | OV | 1 |
| p.C82Y | STAD | 1 |
| p.T155I | SKCM | 1 |
| p.N330S | KIRC | 1 |
| p.G133E | SKCM | 1 |
| p.R183H | ESCA | 1 |
| p.Q18H | OV | 1 |
| p.N62S | HNSC | 1 |
| p.H238Q | LUAD | 1 |
| p.D157N | UCEC | 1 |
| Top |
| TissGeneCNV for PRPH2 |
| 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 PRPH2 |
| 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 | W28996 | PRPH2-PRPH2 | chr6:42665298 | chr6:42664593 | |
| Chimerdb3.0 | FusionScan | BRCA | TCGA-AR-A1AY-01A | DDX39B-PRPH2 | 5'UTR-CDS | chr6:31506539 | chr6:42672349 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-AR-A1AY-01A | DDX39B-PRPH2 | Out-of-frame | Chr6:31506540 | Chr6:42672349 |
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| TissGeneNet for PRPH2 |
| 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) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| PRPH2, GRAP2, PRPH, ROM1, CNGB1 (tumor) | PRPH2, GRAP2, PRPH, ROM1, CNGB1 (normal) |
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| TissGeneProg for PRPH2 |
| 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 PRPH2 |
| TissGeneDrug for PRPH2 |
| 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 PRPH2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0242383 | Age related macular degeneration | 30 | BeFree,GAD,LHGDN |
| umls:C0035334 | Retinitis Pigmentosa | 29 | BeFree,CLINVAR,GAD,LHGDN,ORPHANET |
| umls:C0339525 | Autosomal dominant retinitis pigmentosa | 29 | BeFree |
| umls:C0339508 | Hereditary macular dystrophy | 15 | BeFree |
| umls:C0730292 | Macular dystrophy | 15 | BeFree |
| umls:C0035304 | Retinal Degeneration | 11 | BeFree |
| umls:C0854723 | Retinal Dystrophies | 10 | BeFree,GAD |
| umls:C0035309 | Retinal Diseases | 9 | BeFree,GAD,RGD |
| umls:C0024437 | Macular degeneration | 6 | BeFree |
| umls:C1842475 | Retinitis Pigmentosa 7 | 6 | CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C1842914 | Adult-Onset Vitelliform Macular Dystrophy | 6 | BeFree,CLINVAR,GAD,UNIPROT |
| umls:C0730362 | Disorder of macula of retina | 5 | BeFree |
| umls:C1405854 | Retinitis punctata albescens (disorder) | 4 | BeFree |
| umls:C1536451 | Central areolar choroidal sclerosis | 4 | BeFree,ORPHANET |
| umls:C1868569 | Patterned dystrophy of retinal pigment epithelium | 4 | CLINVAR,CTD_human,UNIPROT |
| umls:C0006012 | Borderline Personality Disorder | 3 | BeFree |
| umls:C0006287 | Bronchopulmonary Dysplasia | 3 | BeFree |
| umls:C0220701 | RETINITIS PIGMENTOSA 1 | 3 | BeFree |
| umls:C1260959 | Drusen | 3 | BeFree |
| umls:C0339510 | Vitelliform Macular Dystrophy | 2 | BeFree,CTD_human |
| umls:C1320640 | Peripheral degeneration of retina | 2 | BeFree |
| umls:C1536085 | Geographic Atrophy | 2 | BeFree |
| umls:C1998028 | Photoreceptor degeneration | 2 | BeFree |
| umls:C2751290 | CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 | 2 | BeFree,CLINVAR,CTD_human,UNIPROT |
| umls:C0024440 | Macular Edema, Cystoid | 1 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 1 | LHGDN |
| umls:C0085548 | Autosomal Recessive Polycystic Kidney Disease | 1 | BeFree |
| umls:C0339513 | Dominant drusen | 1 | BeFree |
| umls:C0339526 | Autosomal recessive retinitis pigmentosa | 1 | BeFree |
| umls:C0339527 | Leber Congenital Amaurosis | 1 | BeFree |
| umls:C0600518 | Choroidal Neovascularization | 1 | LHGDN |
| umls:C0730290 | Cone dystrophy | 1 | BeFree |
| umls:C0311338 | Fundus Albipunctatus | 0 | CTD_human,ORPHANET |
| umls:C2675552 | Retinitis Pigmentosa 7, Digenic | 0 | CLINVAR |
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