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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for APOA5 |
Basic gene info. | Gene symbol | APOA5 |
Gene name | apolipoprotein A-V | |
Synonyms | APOAV|RAP3 | |
Cytomap | UCSC genome browser: 11q23 | |
Genomic location | chr11 :116660085-116663136 | |
Type of gene | protein-coding | |
RefGenes | NM_001166598.1, NM_052968.4, | |
Ensembl id | ENSG00000110243 | |
Description | apo-AVapolipoprotein A5regeneration-associated protein 3 | |
Modification date | 20141222 | |
dbXrefs | MIM : 606368 | |
HGNC : HGNC | ||
Ensembl : ENSG00000110243 | ||
HPRD : 06966 | ||
Vega : OTTHUMG00000046116 | ||
Protein | UniProt: Q6Q788 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_APOA5 | |
BioGPS: 116519 | ||
Gene Expression Atlas: ENSG00000110243 | ||
The Human Protein Atlas: ENSG00000110243 | ||
Pathway | NCI Pathway Interaction Database: APOA5 | |
KEGG: APOA5 | ||
REACTOME: APOA5 | ||
ConsensusPathDB | ||
Pathway Commons: APOA5 | ||
Metabolism | MetaCyc: APOA5 | |
HUMANCyc: APOA5 | ||
Regulation | Ensembl's Regulation: ENSG00000110243 | |
miRBase: chr11 :116,660,085-116,663,136 | ||
TargetScan: NM_001166598 | ||
cisRED: ENSG00000110243 | ||
Context | iHOP: APOA5 | |
cancer metabolism search in PubMed: APOA5 | ||
UCL Cancer Institute: APOA5 | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of APOA5 in cancer cell metabolism | 1. Major JM, Yu K, Weinstein SJ, Berndt SI, Hyland PL, et al. (2014) Genetic variants reflecting higher vitamin e status in men are associated with reduced risk of prostate cancer. J Nutr 144: 729-733. doi: 10.3945/jn.113.189928. pmid: 3985829. go to article |
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Phenotypic Information for APOA5(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: APOA5 |
Familial Cancer Database: APOA5 |
* This gene is included in those cancer gene databases. |
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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_LIPIDS_AND_LIPOPROTEINS REACTOME_LIPOPROTEIN_METABOLISM |
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OMIM | 144650; phenotype. 145750; phenotype. 606368; gene. |
Orphanet | 413; Hyperlipoproteinemia type 4. 70470; Hyperlipoproteinemia type 5. |
Disease | KEGG Disease: APOA5 |
MedGen: APOA5 (Human Medical Genetics with Condition) | |
ClinVar: APOA5 | |
Phenotype | MGI: APOA5 (International Mouse Phenotyping Consortium) |
PhenomicDB: APOA5 |
Mutations for APOA5 |
* 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 APOA5 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 |
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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=33) | (# total SNVs=7) |
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(# total SNVs=0) | (# total SNVs=1) |
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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 |
chr11:116661409-116661409 | p.R179H | 3 |
chr11:116661216-116661216 | p.H243Q | 3 |
chr11:116661139-116661139 | p.G269V | 2 |
chr11:116661393-116661393 | p.T184T | 2 |
chr11:116661407-116661407 | p.V180L | 2 |
chr11:116661335-116661335 | p.R204C | 2 |
chr11:116662407-116662407 | p.S19L | 2 |
chr11:116660863-116660863 | p.S361N | 1 |
chr11:116661110-116661110 | p.E279K | 1 |
chr11:116661629-116661629 | p.R106C | 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 |   |   | 5 | 1 |   | 2 |   | 1 |   |   | 7 | 4 |   |   |   | 9 | 10 |   | 4 |
# mutation | 1 |   |   | 5 | 1 |   | 2 |   | 1 |   |   | 7 | 4 |   |   |   | 9 | 11 |   | 4 |
nonsynonymous SNV | 1 |   |   | 5 | 1 |   | 1 |   | 1 |   |   | 7 | 2 |   |   |   | 5 | 7 |   | 2 |
synonymous SNV |   |   |   |   |   |   | 1 |   |   |   |   |   | 2 |   |   |   | 4 | 4 |   | 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 |
chr11:116661546 | p.T184T,APOA5 | 2 |
chr11:116661393 | p.T133T,APOA5 | 2 |
chr11:116661628 | p.I202I,APOA5 | 1 |
chr11:116660888 | p.A114V,APOA5 | 1 |
chr11:116661246 | p.S197S,APOA5 | 1 |
chr11:116661395 | p.R106H,APOA5 | 1 |
chr11:116661629 | p.H353D,APOA5 | 1 |
chr11:116660902 | p.A195A,APOA5 | 1 |
chr11:116661297 | p.R106S,APOA5 | 1 |
chr11:116661407 | p.W348L,APOA5 | 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 APOA5 |
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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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APCS,APOA1,APOA2,APOA4,APOA5,APOC3,C8A, C8G,C9,CREB3L3,CRP,F2,FABP1,FGF23, G6PC,ITIH1,MT1B,PLG,SERPINA7,SERPINC1,TM4SF5 | ACSM2A,ACSM2B,AMN,APOA5,APOC3,APOL4,TBATA, CHGA,CHGB,CPO,DBH,ORM1,ORM2,PDZD7, PHOX2B,SLC18A1,SNORA14A,ST8SIA3,TAGLN3,TH,TTC36 | ||||
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AHSG,ALB,APCS,APOA5,APOC3,C8A,C8B, CFHR2,CFHR5,CRP,CYP4A11,F9,FGA,FGG, GDF2,ITIH1,LECT2,LEUTX,LOC286359,SERPINC1,SPP2 | APOA5,SMIM24,C1orf105,CREB3L3,CYP4A11,CYP4F2,DAB1, DEFA5,DHDH,DPP4,FADS6,MS4A10,NAALADL1,NAT8, NLRP6,NTS,REG3A,SLC15A1,SLC6A19,TMEM229A,UGT1A4 |
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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 APOA5 |
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DB Category | DB Name | DB's ID and Url link |
Organism-specific databases | PharmGKB | PA24888; -. |
Organism-specific databases | CTD | 116519; -. |
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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 |
DB01076 | apolipoprotein A-V | approved | Atorvastatin | ![]() | ![]() |
DB00227 | apolipoprotein A-V | approved; investigational | Lovastatin | ![]() | ![]() |
DB00641 | apolipoprotein A-V | approved | Simvastatin | ![]() | ![]() |
DB00363 | apolipoprotein A-V | approved | Clozapine | ![]() | ![]() |
DB00334 | apolipoprotein A-V | approved; investigational | Olanzapine | ![]() | ![]() |
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Cross referenced IDs for APOA5 |
* 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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