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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for POMC |
Basic gene info. | Gene symbol | POMC |
Gene name | proopiomelanocortin | |
Synonyms | ACTH|CLIP|LPH|MSH|NPP|POC | |
Cytomap | UCSC genome browser: 2p23.3 | |
Genomic location | chr2 :25383721-25391559 | |
Type of gene | protein-coding | |
RefGenes | NM_000939.2, NM_001035256.1, | |
Ensembl id | ENSG00000115138 | |
Description | adrenocorticotropic hormoneadrenocorticotropinalpha-MSHalpha-melanocyte-stimulating hormonebeta-LPHbeta-MSHbeta-endorphinbeta-melanocyte-stimulating hormonecorticotropin-like intermediary peptidecorticotropin-lipotropingamma-LPHgamma-MSHlipotr | |
Modification date | 20141207 | |
dbXrefs | MIM : 176830 | |
HGNC : HGNC | ||
Ensembl : ENSG00000115138 | ||
HPRD : 01462 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_POMC | |
BioGPS: 5443 | ||
Gene Expression Atlas: ENSG00000115138 | ||
The Human Protein Atlas: ENSG00000115138 | ||
Pathway | NCI Pathway Interaction Database: POMC | |
KEGG: POMC | ||
REACTOME: POMC | ||
ConsensusPathDB | ||
Pathway Commons: POMC | ||
Metabolism | MetaCyc: POMC | |
HUMANCyc: POMC | ||
Regulation | Ensembl's Regulation: ENSG00000115138 | |
miRBase: chr2 :25,383,721-25,391,559 | ||
TargetScan: NM_000939 | ||
cisRED: ENSG00000115138 | ||
Context | iHOP: POMC | |
cancer metabolism search in PubMed: POMC | ||
UCL Cancer Institute: POMC | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for POMC(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: POMC |
Familial Cancer Database: POMC |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: POMC |
MedGen: POMC (Human Medical Genetics with Condition) | |
ClinVar: POMC | |
Phenotype | MGI: POMC (International Mouse Phenotyping Consortium) |
PhenomicDB: POMC |
Mutations for POMC |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows POMC related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
AV750716 | POMC | 8 | 306 | 2 | 25384529 | 25391423 | STK16 | 302 | 545 | 2 | 220110425 | 220110762 | |
CD251046 | POMC | 1 | 217 | 2 | 25387510 | 25391431 | RPL14 | 212 | 446 | 3 | 40503530 | 40503764 |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=26) | (# total SNVs=10) |
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(# total SNVs=2) | (# total SNVs=0) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr2:25384121-25384121 | p.V211V | 3 |
chr2:25384084-25384084 | p.E224K | 2 |
chr2:25387619-25387619 | p.R8H | 2 |
chr2:25384322-25384322 | p.F144L | 2 |
chr2:25384144-25384144 | p.D204N | 2 |
chr2:25384587-25384587 | p.A56V | 2 |
chr2:25383986-25383986 | p.N256N | 1 |
chr2:25384367-25384367 | p.K129K | 1 |
chr2:25387560-25387560 | p.C28G | 1 |
chr2:25384074-25384074 | p.R227H | 1 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample |   | 1 |   | 4 |   |   | 1 |   | 1 | 2 |   | 3 | 2 |   |   | 1 | 3 | 6 | 1 | 5 |
# mutation |   | 1 |   | 4 |   |   | 1 |   | 1 | 2 |   | 3 | 2 |   |   | 1 | 4 | 7 | 1 | 6 |
nonsynonymous SNV |   |   |   | 3 |   |   | 1 |   | 1 | 2 |   | 1 | 2 |   |   | 1 | 3 | 6 |   | 4 |
synonymous SNV |   | 1 |   | 1 |   |   |   |   |   |   |   | 2 |   |   |   |   | 1 | 1 | 1 | 2 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr2:25384011 | p.G238S,POMC | 1 |
chr2:25384191 | p.K136E,POMC | 1 |
chr2:25387536 | p.D234Y,POMC | 1 |
chr2:25384028 | p.R133S,POMC | 1 |
chr2:25384212 | p.P231P,POMC | 1 |
chr2:25387560 | p.P132L,POMC | 1 |
chr2:25384042 | p.P231L,POMC | 1 |
chr2:25384246 | p.L37L,POMC | 1 |
chr2:25387568 | p.P220S,POMC | 1 |
chr2:25384054 | p.D36N,POMC | 1 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for POMC |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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ABCG8,ADH4,ALG1L,DNPH1,CCDC102A,EPHB3,FAM101A, FLJ23867,HCCAT5,KCNN4,KIAA1755,MFI2,MIA,NDRG2, NRTN,POLR2F,POMC,PTH2,SNX22,SOX10,TPPP2 | ATP5D,C17orf89,BABAM1,CDKN2D,CLTB,DEXI,FAM89B, HOMER3,HSPB1,KEAP1,LSM10,MAF1,MAP1LC3A,MRPL41, NDUFS8,NOSIP,POMC,PSMC3,PSMD4,TWF2,ZNF358 | ||||
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CPT1C,DPYSL4,FLG,GPR162,GRIN2A,HPCAL4,JPH4, KCNT2,NRG2,NTRK1,POMC,RAB39B,RGAG4,SCN1A, SLC17A7,SLITRK2,SSTR2,TCEAL5,TMEM59L,VENTXP1,ZNF385D | C10orf25,C20orf27,C9orf9,CDKN2C,CRELD1,FFAR3,GYPC, KCNJ5,LOC678655,NAT14,NINJ1,OAZ2,PELI3,PJA1, PLA2G2C,POMC,RAPSN,SLC22A2,SNN,TULP2,UBTD1 |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for POMC |
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DB Category | DB Name | DB's ID and Url link |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00836 | proopiomelanocortin | approved | Loperamide | ![]() | ![]() |
DB01497 | proopiomelanocortin | illicit; experimental | Etorphine | ![]() | ![]() |
DB01565 | proopiomelanocortin | illicit; experimental | Dihydromorphine | ![]() | ![]() |
DB00269 | proopiomelanocortin | approved | Chlorotrianisene | ![]() | ![]() |
DB00286 | proopiomelanocortin | approved | Conjugated Estrogens | ![]() | ![]() |
DB00890 | proopiomelanocortin | approved | Dienestrol | ![]() | ![]() |
DB00255 | proopiomelanocortin | approved | Diethylstilbestrol | ![]() | ![]() |
DB00783 | proopiomelanocortin | approved; investigational | Estradiol | ![]() | ![]() |
DB00655 | proopiomelanocortin | approved | Estrone | ![]() | ![]() |
DB00977 | proopiomelanocortin | approved | Ethinyl Estradiol | ![]() | ![]() |
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Cross referenced IDs for POMC |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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