|
Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ABCG8 |
Basic gene info. | Gene symbol | ABCG8 |
Gene name | ATP-binding cassette, sub-family G (WHITE), member 8 | |
Synonyms | GBD4|STSL | |
Cytomap | UCSC genome browser: 2p21 | |
Genomic location | chr2 :44066102-44105605 | |
Type of gene | protein-coding | |
RefGenes | NM_022437.2, | |
Ensembl id | ENSG00000143921 | |
Description | ATP-binding cassette sub-family G member 8ATP-binding cassette, subfamily G, member 8sterolin 2sterolin-2 | |
Modification date | 20141222 | |
dbXrefs | MIM : 605460 | |
HGNC : HGNC | ||
Ensembl : ENSG00000143921 | ||
HPRD : 05679 | ||
Vega : OTTHUMG00000128756 | ||
Protein | UniProt: Q9H221 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ABCG8 | |
BioGPS: 64241 | ||
Gene Expression Atlas: ENSG00000143921 | ||
The Human Protein Atlas: ENSG00000143921 | ||
Pathway | NCI Pathway Interaction Database: ABCG8 | |
KEGG: ABCG8 | ||
REACTOME: ABCG8 | ||
ConsensusPathDB | ||
Pathway Commons: ABCG8 | ||
Metabolism | MetaCyc: ABCG8 | |
HUMANCyc: ABCG8 | ||
Regulation | Ensembl's Regulation: ENSG00000143921 | |
miRBase: chr2 :44,066,102-44,105,605 | ||
TargetScan: NM_022437 | ||
cisRED: ENSG00000143921 | ||
Context | iHOP: ABCG8 | |
cancer metabolism search in PubMed: ABCG8 | ||
UCL Cancer Institute: ABCG8 | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of ABCG8 in cancer cell metabolism | 1. Hlavata I, Mohelnikova-Duchonova B, Vaclavikova R, Liska V, Pitule P, et al. (2012) The role of ABC transporters in progression and clinical outcome of colorectal cancer. Mutagenesis 27: 187-196. doi: 10.1093/mutage/ger075. go to article 2. Patel SB (2014) Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology. Curr Opin Lipidol 25: 169-175. doi: 10.1097/MOL.0000000000000071. go to article |
Top |
Phenotypic Information for ABCG8(metabolism pathway, cancer, disease, phenome) |
![]() | |
Cancer | CGAP: ABCG8 |
Familial Cancer Database: ABCG8 |
* 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/ |
![]() | |
REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
![]() | |
OMIM | 210250; phenotype. 605460; gene. 611465; phenotype. |
Orphanet | 2882; Sitosterolemia. |
Disease | KEGG Disease: ABCG8 |
MedGen: ABCG8 (Human Medical Genetics with Condition) | |
ClinVar: ABCG8 | |
Phenotype | MGI: ABCG8 (International Mouse Phenotyping Consortium) |
PhenomicDB: ABCG8 |
Mutations for ABCG8 |
* 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. |
![]() |
- Statistics for Tissue and Mutation type | Top |
![]() |
- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
![]() |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
![]() |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | ABCG8 | chr2 | 44075465 | 44075485 | ABCG8 | chr2 | 44077242 | 44077262 |
pancreas | ABCG8 | chr2 | 44079992 | 44080192 | ZNF521 | chr18 | 22892429 | 22892629 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
![]() |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ABCG8 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 |
![]() |
Top |
![]() |
There's no copy number variation information in COSMIC data for this gene. |
Top |
![]() |
|
![]() |
Top |
![]() |
Stat. for Non-Synonymous SNVs (# total SNVs=75) | (# total SNVs=27) |
![]() | ![]() |
(# total SNVs=2) | (# total SNVs=0) |
![]() |
Top |
![]() |
* 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 |
chr2:44104775-44104775 | p.R611I | 3 |
chr2:44102409-44102409 | p.V538G | 3 |
chr2:44078951-44078951 | p.R184H | 3 |
chr2:44079912-44079912 | p.T290I | 2 |
chr2:44078853-44078853 | p.V151V | 2 |
chr2:44079531-44079531 | p.C200C | 2 |
chr2:44078854-44078854 | p.R152C | 2 |
chr2:44079618-44079618 | p.W229* | 2 |
chr2:44099383-44099383 | p.T383T | 2 |
chr2:44104812-44104812 | p.A623A | 2 |
Top |
![]() |
|
![]() |
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 | 2 | 1 | 2 | 8 | 1 |   | 7 |   | 4 |   | 1 | 15 | 9 | 3 |   |   | 16 | 9 | 3 | 10 |
# mutation | 2 | 1 | 2 | 11 | 1 |   | 8 |   | 4 |   | 1 | 15 | 10 | 3 |   |   | 21 | 9 | 3 | 12 |
nonsynonymous SNV |   |   | 1 | 9 | 1 |   | 6 |   | 3 |   | 1 | 10 | 9 | 1 |   |   | 12 | 6 | 2 | 6 |
synonymous SNV | 2 | 1 | 1 | 2 |   |   | 2 |   | 1 |   |   | 5 | 1 | 2 |   |   | 9 | 3 | 1 | 6 |
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]) |
Top |
![]() |
* 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 |
chr2:44078951 | p.R184H | 3 |
chr2:44079964 | p.I307I | 3 |
chr2:44079912 | p.R597W | 2 |
chr2:44101062 | p.R611K | 2 |
chr2:44104732 | p.A450T | 2 |
chr2:44104775 | p.T290N | 2 |
chr2:44079738 | p.G232E | 2 |
chr2:44102330 | p.G574G | 1 |
chr2:44078767 | p.F71L | 1 |
chr2:44099211 | p.S140S | 1 |
![]() |
![]() |
* 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. |
![]() |
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] |
Top |
Gene Expression for ABCG8 |
![]() |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
![]() |
![]() |
* 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)) |
![]() |
Top |
![]() |
* This plots show the correlation between CNV and gene expression. |
![]() | |
![]() |
Top |
Gene-Gene Network Information |
![]() |
* 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 |
![]() | |||||
A1BG,ABCG5,ABCG8,ALG1L,LINC00313,LSMEM2,CA5A, F12,H3F3C,HAMP,HCCAT5,HYAL1,LEAP2,LOC84989, MT1A,MT1DP,MT1F,POMC,PTH2,RIMBP3C,TMEM82 | ABCG8,ADH1B,TRABD2A,HILPDA,CIDEA,DEFA6,DSG4, ENOX1,GYS2,HADH,LOC283392,LOC401052,MAP3K5,NAALAD2, NIPSNAP3B,PDK4,RGS17,RNF125,SLC19A3,TM7SF2,UTS2B | ||||
![]() | |||||
ABCG5,ABCG8,ACBD5,CREG2,CTAGE5,FAM169B,FGD4, LYZ,MIA2,MLPH,MTMR10,MTUS1,PRSS12,PSAPL1, RAB27B,SEMA4B,SLC9A4,SOCS6,SSTR1,TRAK1,ZMYND12 | AADAC,ABCG5,ABCG8,ALDOB,APOA1,APOA4,C17orf78, ERICH4,CEACAM20,CRISP1,DPEP1,ENPEP,FABP6,GSTA2, GSTA5,KCNJ13,ONECUT3,SLC2A2,SLC7A9,SPA |
![]() |
* 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 |
Top |
![]() |
Top |
Pharmacological Information for ABCG8 |
![]() |
DB Category | DB Name | DB's ID and Url link |
Organism-specific databases | PharmGKB | PA24412; -. |
Organism-specific databases | CTD | 64241; -. |
![]() |
* Gene Centered Interaction Network. |
![]() |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00973 | ATP-binding cassette, sub-family G (WHITE), member 8 | approved | Ezetimibe | ![]() | ![]() |
DB01076 | ATP-binding cassette, sub-family G (WHITE), member 8 | approved | Atorvastatin | ![]() | ![]() |
DB01095 | ATP-binding cassette, sub-family G (WHITE), member 8 | approved | Fluvastatin | ![]() | ![]() |
DB00227 | ATP-binding cassette, sub-family G (WHITE), member 8 | approved; investigational | Lovastatin | ![]() | ![]() |
DB00175 | ATP-binding cassette, sub-family G (WHITE), member 8 | approved | Pravastatin | ![]() | ![]() |
DB01098 | ATP-binding cassette, sub-family G (WHITE), member 8 | approved | Rosuvastatin | ![]() | ![]() |
DB00641 | ATP-binding cassette, sub-family G (WHITE), member 8 | approved | Simvastatin | ![]() | ![]() |
Top |
Cross referenced IDs for ABCG8 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
Copyright © 2016-Present - The Univsersity of Texas Health Science Center at Houston @ |