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| TissGeneSummary for PMEL |
 Gene summary |
| Basic gene information | Gene symbol | PMEL |
| Gene name | premelanosome protein | |
| Synonyms | D12S53E|ME20|ME20-M|ME20M|P1|P100|PMEL17|SI|SIL|SILV|gp100 | |
| Cytomap | UCSC genome browser: 12q13-q14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001200053.1, NM_001200054.1,NM_006928.4, | |
| Description | melanocyte protein PMELmelanocyte protein Pmel 17melanocyte protein mel 17melanocytes lineage-specific antigen GP100melanoma-associated ME20 antigenmelanosomal matrix protein17silver locus protein homologsilver, mouse, homolog of | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 155550 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000185664 | ||
| HPRD : 01117 | ||
| Vega : OTTHUMG00000170573 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PMEL | |
| BioGPS: 6490 | ||
| Pathway | NCI Pathway Interaction Database: PMEL | |
| KEGG: PMEL | ||
| REACTOME: PMEL | ||
| Pathway Commons: PMEL | ||
| Context | iHOP: PMEL | |
| ligand binding site mutation search in PubMed: PMEL | ||
| UCL Cancer Institute: PMEL | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,TiGER | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Skin | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCM | |
| Reference showing the relevant tissue of PMEL | ||
| Description by TissGene annotations | Cancer gene | |
| * 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 | GO:0032438 | melanosome organization | 11694580 | GO:0032438 | melanosome organization | 11694580 |
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| TissGeneExp for PMEL |
| 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) |
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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) |
| - 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 PMEL |
| 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 PMEL |
| TissGeneSNV for PMEL |
| 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.L48P | LIHC | 1 |
| p.R40K | SKCM | 1 |
| p.T322I | LGG | 1 |
| p.S453Y | UCEC | 1 |
| p.A273E | UCEC | 1 |
| p.K6X | SKCM | 1 |
| p.W637C | UCEC | 1 |
| p.A224V | LGG | 1 |
| p.Q145* | CESC | 1 |
| p.R642H | UCEC | 1 |
| p.V291I | SKCM | 1 |
| p.G249D | LGG | 1 |
| p.R192L | LUAD | 1 |
| p.A578T | COAD | 1 |
| p.T394I | COAD | 1 |
| p.G519R | STAD | 1 |
| p.C8W | OV | 1 |
| p.L520R | BLCA | 1 |
| p.T447M | THYM | 1 |
| p.S626F | LUAD | 1 |
| p.R191C | BLCA | 1 |
| p.R642H | COAD | 1 |
| p.V627I | UCEC | 1 |
| p.S504F | SKCM | 1 |
| p.H190Y | HNSC | 1 |
| p.A340V | LGG | 1 |
| p.T108N | BLCA | 1 |
| p.W52C | LUAD | 1 |
| p.R479Q | STAD | 1 |
| p.E506K | BLCA | 1 |
| p.Q47* | SARC | 1 |
| p.R649H | COAD | 1 |
| p.T181A | SKCM | 1 |
| p.L512P | SKCM | 1 |
| p.S653N | LUAD | 1 |
| p.P214S | SKCM | 1 |
| p.G592C | PRAD | 1 |
| p.C60Y | BLCA | 1 |
| p.A17D | UCEC | 1 |
| p.L251Q | LUSC | 1 |
| p.S529* | BLCA | 1 |
| p.V580I | SKCM | 1 |
| p.R649H | STAD | 1 |
| p.A206S | LGG | 1 |
| p.K6* | SKCM | 1 |
| p.V102D | PRAD | 1 |
| p.H202D | BLCA | 1 |
| p.N111S | GBM | 1 |
| p.R234I | READ | 1 |
| p.R625H | STAD | 1 |
| p.Q145H | UCEC | 1 |
| p.G34A | UCEC | 1 |
| p.G34V | COAD | 1 |
| p.T427S | HNSC | 1 |
| p.G136R | SKCM | 1 |
| p.G157D | LIHC | 1 |
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| TissGeneCNV for PMEL |
| 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 PMEL |
| 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 | EL948109 | PMEL-DPCD | chr12:56359806 | chr10:103339274 | |
| TCGAfusionPortal | PRADA | SKCM | TCGA-EB-A5SE-01A | AC020907.3-PMEL | CDS-5UTR | Chr19:35577860 | Chr12:56360498 |
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| TissGeneNet for PMEL |
| 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 PMEL |
| 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 PMEL |
| TissGeneDrug for PMEL |
| 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 PMEL |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0025202 | melanoma | 79 | BeFree,GAD,LHGDN |
| umls:C0302592 | Cervix carcinoma | 10 | BeFree |
| umls:C1302773 | Low Grade Squamous Intraepithelial Neoplasia | 10 | BeFree |
| umls:C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 10 | BeFree |
| umls:C0333875 | High-Grade Squamous Intraepithelial Lesions | 9 | BeFree |
| umls:C0278883 | Metastatic melanoma | 7 | BeFree |
| umls:C0004565 | Melanoma, B16 | 5 | BeFree |
| umls:C0007847 | Malignant tumor of cervix | 5 | BeFree |
| umls:C0042900 | Vitiligo | 3 | BeFree |
| umls:C0333873 | Squamous intraepithelial lesion | 3 | BeFree |
| umls:C1847835 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 3 | BeFree |
| umls:C0007137 | Squamous cell carcinoma | 2 | BeFree |
| umls:C0016629 | Fowlpox | 2 | BeFree |
| umls:C0019693 | HIV Infections | 2 | BeFree |
| umls:C0023418 | leukemia | 2 | BeFree |
| umls:C0026764 | Multiple Myeloma | 2 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 2 | BeFree |
| umls:C0153676 | Secondary malignant neoplasm of lung | 2 | BeFree |
| umls:C0162835 | Hypopigmentation disorder | 2 | BeFree |
| umls:C0206633 | Angiomyolipoma | 2 | BeFree |
| umls:C0275524 | Coinfection | 2 | BeFree |
| umls:C0596263 | Carcinogenesis | 2 | BeFree |
| umls:C1334177 | Infiltrating Cervical Carcinoma | 2 | BeFree |
| umls:C1519680 | Tumor Immunity | 2 | BeFree |
| umls:C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | BeFree |
| umls:C0001418 | Adenocarcinoma | 1 | BeFree |
| umls:C0001973 | Alcoholic Intoxication, Chronic | 1 | BeFree |
| umls:C0004096 | Asthma | 1 | GWASCAT |
| umls:C0004364 | Autoimmune Diseases | 1 | BeFree |
| umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
| umls:C0007867 | Cervix Diseases | 1 | BeFree |
| umls:C0008626 | Congenital chromosomal disease | 1 | BeFree |
| umls:C0012739 | Disseminated Intravascular Coagulation | 1 | BeFree |
| umls:C0017636 | Glioblastoma | 1 | BeFree |
| umls:C0017638 | Glioma | 1 | BeFree |
| umls:C0018213 | Graves Disease | 1 | BeFree |
| umls:C0020542 | Pulmonary Hypertension | 1 | BeFree |
| umls:C0023434 | Chronic Lymphocytic Leukemia | 1 | BeFree |
| umls:C0023449 | Acute lymphocytic leukemia | 1 | BeFree |
| umls:C0023492 | Leukemia, T-Cell | 1 | BeFree |
| umls:C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | BeFree |
| umls:C0024299 | Lymphoma | 1 | BeFree |
| umls:C0026010 | Microphthalmos | 1 | BeFree |
| umls:C0030232 | Pallor | 1 | BeFree |
| umls:C0032927 | Precancerous Conditions | 1 | BeFree |
| umls:C0036572 | Seizures | 1 | BeFree |
| umls:C0039614 | Tetanus | 1 | BeFree |
| umls:C0040147 | Thyroiditis | 1 | BeFree |
| umls:C0041364 | Tumor Lysis Syndrome | 1 | BeFree |
| umls:C0078918 | Albinism, Oculocutaneous | 1 | GAD |
| umls:C0079504 | Hermanski-Pudlak Syndrome | 1 | BeFree |
| umls:C0205748 | Dysplastic Nevus | 1 | BeFree |
| umls:C0242596 | Neoplasm, Residual | 1 | BeFree |
| umls:C0276199 | Canarypox (disorder) | 1 | BeFree |
| umls:C0342158 | Hypothyroidism, Autoimmune | 1 | BeFree |
| umls:C0346957 | Disseminated Malignant Neoplasm | 1 | BeFree |
| umls:C0376358 | Malignant neoplasm of prostate | 1 | BeFree |
| umls:C0422943 | Visual symptoms | 1 | BeFree |
| umls:C0522274 | Humoral immune defect | 1 | BeFree |
| umls:C0600139 | Prostate carcinoma | 1 | BeFree |
| umls:C0677898 | invasive cancer | 1 | BeFree |
| umls:C0677944 | Sentinel node (disorder) | 1 | BeFree |
| umls:C0751674 | Lymphangioleiomyomatosis | 1 | BeFree |
| umls:C1283620 | Sucrase-isomaltase deficiency, congenital | 1 | BeFree |
| umls:C1300127 | Perivascular Epithelioid Cell Neoplasms | 1 | BeFree |
| umls:C1840451 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 1 | BeFree |
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