 |
| |
| |
| |
| |
| |
| |
|
| TissGeneSummary for MC1R |
 Gene summary |
| Basic gene information | Gene symbol | MC1R |
| Gene name | melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) | |
| Synonyms | CMM5|MSH-R|SHEP2 | |
| Cytomap | UCSC genome browser: 16q24.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002386.3, | |
| Description | MC1-Rmelanocyte-stimulating hormone receptormelanotropin receptor | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 155555 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000258839 | ||
| HPRD : 01118 | ||
| Vega : OTTHUMG00000171163 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MC1R | |
| BioGPS: 4157 | ||
| Pathway | NCI Pathway Interaction Database: MC1R | |
| KEGG: MC1R | ||
| REACTOME: MC1R | ||
| Pathway Commons: MC1R | ||
| Context | iHOP: MC1R | |
| ligand binding site mutation search in PubMed: MC1R | ||
| UCL Cancer Institute: MC1R | ||
| 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) | SkinTestis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCMTGCT | |
| Reference showing the relevant tissue of MC1R | ||
| Description by TissGene annotations | Cancer gene 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 | GO:0030819 | positive regulation of cAMP biosynthetic process | 19329486 | GO:0070914 | UV-damage excision repair | 18292087 | GO:0030819 | positive regulation of cAMP biosynthetic process | 19329486 | GO:0070914 | UV-damage excision repair | 18292087 |
| Top |
| TissGeneExp for MC1R |
| 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 |
| LUSC | 0.91779251 | -0.206321215 | 1.124113725 | 1.63E-09 | 5.47E-09 |
| KIRP | 1.295957461 | -0.434539414 | 1.730496875 | 8.27E-08 | 5.07E-07 |
| COAD | 0.458473807 | -0.70904927 | 1.167523077 | 6.73E-08 | 4.91E-07 |
| LUAD | 1.378628582 | -0.331623142 | 1.710251724 | 1.93E-17 | 2.52E-16 |
| HNSC | 0.934896705 | -0.615547481 | 1.550444186 | 8.74E-11 | 1.79E-09 |
| BRCA | 0.497960312 | -0.614603723 | 1.112564035 | 2.03E-20 | 1.51E-19 |
| STAD | 0.131801211 | -1.164898789 | 1.2967 | 6.24E-07 | 1.11E-05 |
| Top |
| TissGene-miRNA for MC1R |
| 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 |
| Top |
| TissGeneMut for MC1R |
| TissGeneSNV for MC1R |
| 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.A198V | COAD | 1 |
| p.A285S | ESCA | 1 |
| p.V174I | HNSC | 1 |
| p.G49R | SKCM | 1 |
| p.A204V | STAD | 1 |
| p.V205M | STAD | 1 |
| p.R229H | STAD | 1 |
| p.V193M | LGG | 1 |
| p.T95M | DLBC | 1 |
| p.L263H | READ | 1 |
| p.C79Y | ACC | 1 |
| p.E311K | LUAD | 1 |
| p.S52G | UCS | 1 |
| p.H260Y | STAD | 1 |
| p.V193L | COAD | 1 |
| p.F280L | STAD | 1 |
| p.S176G | LGG | 1 |
| p.Q4X | THYM | 1 |
| p.V97A | LGG | 1 |
| p.R34W | LUAD | 1 |
| p.V92L | ESCA | 1 |
| p.V188I | HNSC | 1 |
| p.A164T | HNSC | 1 |
| p.K65N | READ | 1 |
| p.F257L | BLCA | 1 |
| p.S369C | CESC | 1 |
| p.K65N | UCEC | 1 |
| p.A285T | UCEC | 1 |
| p.A167T | UCEC | 1 |
| p.R109Q | TGCT | 1 |
| p.F280L | BLCA | 1 |
| Top |
| TissGeneCNV for MC1R |
| 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) |
 |
| Top |
| TissGeneFusions for MC1R |
| 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 | AI783613 | ACY1-MC1R | chr3:52023209 | chr16:89987059 |
| Top |
| TissGeneNet for MC1R |
| 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) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| COAD (tumor) | COAD (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| HNSC (tumor) | HNSC (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| KICH (tumor) | KICH (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| KIRC (tumor) | KIRC (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| KIRP (tumor) | KIRP (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| LIHC (tumor) | LIHC (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| LUAD (tumor) | LUAD (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| PRAD (tumor) | PRAD (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| STAD (tumor) | STAD (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| THCA (tumor) | THCA (normal) |
| MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (tumor) | MC1R, MGRN1, POMC, MC4R, MRAP2, MRAP, ASIP (normal) |
 |  |
| Top |
| TissGeneProg for MC1R |
| 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. |
 |
| Top |
| TissGeneClin for MC1R |
| TissGeneDrug for MC1R |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Top |
| TissGeneDisease for MC1R |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0025202 | melanoma | 149 | BeFree,CTD_human,GAD,LHGDN |
| umls:C0007114 | Malignant neoplasm of skin | 43 | BeFree,GAD |
| umls:C0151779 | Cutaneous Melanoma | 30 | BeFree,GAD |
| umls:C0037286 | Skin Neoplasms | 27 | GAD,LHGDN |
| umls:C1849452 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) | 17 | BeFree |
| umls:C3811653 | Experimental Organism Basal Cell Carcinoma | 17 | BeFree |
| umls:C0027960 | Nevus | 9 | BeFree,GAD |
| umls:C0027962 | Melanocytic nevus | 8 | BeFree |
| umls:C0699893 | Skin carcinoma | 8 | BeFree,GAD,GWASCAT |
| umls:C0007117 | Basal cell carcinoma | 7 | CTD_human,GAD,GWASCAT,LHGDN |
| umls:C0007137 | Squamous cell carcinoma | 6 | BeFree,GAD |
| umls:C1456781 | Benign melanocytic nevus | 6 | BeFree |
| umls:C0344307 | Absence of pain sensation | 5 | BeFree |
| umls:C3665593 | Melanocytic nevus of skin | 5 | BeFree |
| umls:C0026769 | Multiple Sclerosis | 4 | BeFree,GAD,LHGDN |
| umls:C0027627 | Neoplasm Metastasis | 4 | BeFree |
| umls:C0041834 | Erythema | 4 | BeFree,GAD |
| umls:C0042900 | Vitiligo | 4 | BeFree,CTD_human,GAD |
| umls:C0078918 | Albinism, Oculocutaneous | 4 | BeFree,GAD,LHGDN |
| umls:C0596263 | Carcinogenesis | 4 | BeFree |
| umls:C1512419 | Hereditary Melanoma | 4 | BeFree |
| umls:C0023321 | Lentigo | 3 | BeFree |
| umls:C0028754 | Obesity | 3 | BeFree,GAD |
| umls:C0030567 | Parkinson Disease | 3 | BeFree,GAD |
| umls:C0206735 | Melanoma, Amelanotic | 3 | BeFree,GAD |
| umls:C0268495 | Oculocutaneous albinism type 2 | 3 | BeFree,CTD_human,GAD,ORPHANET |
| umls:C0376358 | Malignant neoplasm of prostate | 3 | BeFree,GAD |
| umls:C1847835 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 3 | BeFree |
| umls:C0001916 | Albinism | 2 | BeFree |
| umls:C0016689 | Freckles | 2 | GAD,GWASCAT |
| umls:C0030232 | Pallor | 2 | BeFree |
| umls:C0033860 | Psoriasis | 2 | BeFree,GAD |
| umls:C0038814 | Sunburn | 2 | GAD,GWASCAT |
| umls:C0080024 | Piebaldism | 2 | BeFree |
| umls:C0162635 | Angelman Syndrome | 2 | BeFree |
| umls:C0600139 | Prostate carcinoma | 2 | BeFree |
| umls:C0001349 | Acute-Phase Reaction | 1 | RGD |
| umls:C0003469 | Anxiety Disorders | 1 | BeFree |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0007115 | Malignant neoplasm of thyroid | 1 | BeFree |
| umls:C0007133 | Carcinoma, Papillary | 1 | GAD |
| umls:C0019829 | Hodgkin Disease | 1 | BeFree |
| umls:C0020429 | Hyperalgesia | 1 | CTD_human |
| umls:C0022602 | Actinic keratosis | 1 | BeFree |
| umls:C0024301 | Lymphoma, Follicular | 1 | BeFree,GAD |
| umls:C0024305 | Lymphoma, Non-Hodgkin | 1 | GAD |
| umls:C0025500 | Mesothelioma | 1 | BeFree |
| umls:C0027533 | Neck Neoplasms | 1 | BeFree |
| umls:C0027663 | Neoplasms, Multiple Primary | 1 | GAD |
| umls:C0027666 | Neoplasms, Radiation-Induced | 1 | GAD |
| umls:C0030193 | Pain | 1 | BeFree |
| umls:C0031511 | Pheochromocytoma | 1 | BeFree |
| umls:C0031762 | Photosensitivity Disorders | 1 | GAD |
| umls:C0037274 | Dermatologic disorders | 1 | BeFree |
| umls:C0037284 | Skin lesion | 1 | BeFree |
| umls:C0040136 | Thyroid Neoplasm | 1 | GAD |
| umls:C0079744 | Diffuse Large B-Cell Lymphoma | 1 | BeFree,GAD |
| umls:C0149678 | Epstein-Barr Virus Infections | 1 | GAD |
| umls:C0153690 | Secondary malignant neoplasm of bone | 1 | BeFree |
| umls:C0162810 | Cicatrix, Hypertrophic | 1 | BeFree |
| umls:C0162835 | Hypopigmentation disorder | 1 | BeFree |
| umls:C0206682 | Follicular thyroid carcinoma | 1 | GAD |
| umls:C0220633 | Uveal melanoma | 1 | BeFree |
| umls:C0269084 | Vulvar Vestibulitis | 1 | BeFree,GAD |
| umls:C0334438 | Superficial spreading malignant melanoma of skin | 1 | BeFree |
| umls:C0549473 | Thyroid carcinoma | 1 | BeFree |
| umls:C0553723 | Squamous cell carcinoma of skin | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
| umls:C0849640 | skin damage | 1 | BeFree |
| umls:C0858864 | Spot pigmented | 1 | BeFree |
| umls:C1318558 | Congenital melanocytic nevus | 1 | BeFree,ORPHANET |
| umls:C1704421 | Skin Pigmentation Disorder | 1 | BeFree |
| umls:C1854310 | Hypotrichosis simplex | 1 | BeFree |
| umls:C1876214 | ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | 1 | BeFree |
| umls:C2739810 | Lentigo maligna melanoma | 1 | BeFree |
| umls:C2751295 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 | 1 | CLINVAR,CTD_human,UNIPROT |
| umls:C3249880 | Solar Erythema | 1 | GAD |
| umls:C3665492 | Structure showing abnormal deposition of pigment (morphologic abnormality) | 1 | GAD |
| umls:C0033680 | Protein-Losing Enteropathies | 0 | CTD_human |
| umls:C1835047 | MELANOMA, CUTANEOUS MALIGNANT, 1 | 0 | CTD_human |
| umls:C1842036 | GIANT PIGMENTED HAIRY NEVUS | 0 | ORPHANET |
| umls:C2678403 | UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO | 0 | CLINVAR |
| umls:C2751296 | INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC (disorder) | 0 | CLINVAR |
Copyright 2016-Present - The University of Texas Health Science Center at Houston (UTHealth) Web File Viewing | How to Report, Fraud, Waste and Abuse | State of Texas | Statewide Search | Texas Homeland Security | Site Policies |