|
Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ALOX12B |
Basic gene info. | Gene symbol | ALOX12B |
Gene name | arachidonate 12-lipoxygenase, 12R type | |
Synonyms | 12R-LOX|ARCI2 | |
Cytomap | UCSC genome browser: 17p13.1 | |
Genomic location | chr17 :7975953-7991021 | |
Type of gene | protein-coding | |
RefGenes | NM_001139.2, | |
Ensembl id | ENSG00000179477 | |
Description | 12R-lipoxygenasearachidonate 12-lipoxygenase, 12R-typeepidermis-type lipoxygenase 12 | |
Modification date | 20141219 | |
dbXrefs | MIM : 603741 | |
HGNC : HGNC | ||
Ensembl : ENSG00000179477 | ||
HPRD : 04772 | ||
Vega : OTTHUMG00000108180 | ||
Protein | UniProt: O75342 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ALOX12B | |
BioGPS: 242 | ||
Gene Expression Atlas: ENSG00000179477 | ||
The Human Protein Atlas: ENSG00000179477 | ||
Pathway | NCI Pathway Interaction Database: ALOX12B | |
KEGG: ALOX12B | ||
REACTOME: ALOX12B | ||
ConsensusPathDB | ||
Pathway Commons: ALOX12B | ||
Metabolism | MetaCyc: ALOX12B | |
HUMANCyc: ALOX12B | ||
Regulation | Ensembl's Regulation: ENSG00000179477 | |
miRBase: chr17 :7,975,953-7,991,021 | ||
TargetScan: NM_001139 | ||
cisRED: ENSG00000179477 | ||
Context | iHOP: ALOX12B | |
cancer metabolism search in PubMed: ALOX12B | ||
UCL Cancer Institute: ALOX12B | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of ALOX12B in cancer cell metabolism | 1. Krieg P, Furstenberger G (2014) The role of lipoxygenases in epidermis. Biochim Biophys Acta 1841: 390-400. doi: 10.1016/j.bbalip.2013.08.005. go to article |
Top |
Phenotypic Information for ALOX12B(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: ALOX12B |
Familial Cancer Database: ALOX12B |
* 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/ |
Metabolic Pathway Description | |
KEGG_ARACHIDONIC_ACID_METABOLISM |
Others | |
OMIM | 242100; phenotype. 603741; gene. |
Orphanet | 281122; Self-healing collodion baby. 313; Lamellar ichthyosis. 79394; Congenital non-bullous ichthyosiform erythroderma. |
Disease | KEGG Disease: ALOX12B |
MedGen: ALOX12B (Human Medical Genetics with Condition) | |
ClinVar: ALOX12B | |
Phenotype | MGI: ALOX12B (International Mouse Phenotyping Consortium) |
PhenomicDB: ALOX12B |
Mutations for ALOX12B |
* 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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- 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 |
pancreas | ALOX12B | chr17 | 7988808 | 7988828 | ALOX12B | chr17 | 7982092 | 7982112 |
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) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ALOX12B 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 |
Other DBs for Structural Variants |
Top |
Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
Top |
SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
|
Top |
Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=31) | (# total SNVs=23) |
(# total SNVs=1) | (# total SNVs=3) |
Top |
Top 10 SNVs Having the Most Samples in COSMIC data |
* 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 |
chr17:7976233-7976233 | p.V654V | 2 |
chr17:7976235-7976235 | p.V654M | 2 |
chr17:7976593-7976593 | p.R600Q | 2 |
chr17:7989371-7989371 | p.M105I | 2 |
chr17:7979644-7979644 | p.E461K | 2 |
chr17:7989454-7989454 | p.P78S | 2 |
chr17:7979986-7979987 | p.L451fs*27 | 2 |
chr17:7989464-7989464 | p.Y74Y | 2 |
chr17:7976269-7976269 | p.? | 2 |
chr17:7980404-7980404 | p.H393H | 2 |
Top |
SNV Counts per Each Loci in TCGA data |
|
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 | 3 | 3 |   | 9 | 2 |   | 4 |   | 1 |   |   | 6 | 3 |   |   |   | 15 | 7 | 2 | 11 |
# mutation | 3 | 2 |   | 9 | 2 |   | 5 |   | 1 |   |   | 6 | 3 |   |   |   | 19 | 8 | 2 | 13 |
nonsynonymous SNV | 2 | 1 |   | 2 |   |   | 4 |   |   |   |   | 5 | 2 |   |   |   | 14 | 7 | 2 | 10 |
synonymous SNV | 1 | 1 |   | 7 | 2 |   | 1 |   | 1 |   |   | 1 | 1 |   |   |   | 5 | 1 |   | 3 |
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 |
Top 10 SNVs Having the Most Samples in TCGA data |
* 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 |
chr17:7989371 | p.M105I | 2 |
chr17:7989454 | p.P78S | 2 |
chr17:7984278 | p.V27V | 2 |
chr17:7976235 | p.V654M | 2 |
chr17:7990680 | p.E461K | 2 |
chr17:7979644 | p.P151S | 2 |
chr17:7976248 | p.T628M | 1 |
chr17:7979992 | p.A525T | 1 |
chr17:7990713 | p.R386C | 1 |
chr17:7977019 | p.P127P | 1 |
Other DBs for Point Mutations |
Copy Number for ALOX12B in TCGA |
* 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 ALOX12B |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* 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 |
CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
Top |
Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* 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 |
ALOX12B,ASPRV1,C1orf68,CCL27,FLG,FLG2,IL1F10, KPRP,KRT1,KRTDAP,LCE1A,LCE1B,LCE1C,LCE1E, LCE1F,LCE2B,LCE2C,LCE2D,LCE5A,LCE6A,LOR | ALOX12B,CCDC120,CDC42BPG,CKMT1B,CLSTN1,DHRS13,ELMO3, FBL,FOLR1,KRT15,LAD1,NCK2,PIP5KL1,RHOV, RIPK4,RPL3,RPS3,RPS5,SH2D3A,SOX10,TMEM177 |
ALOX12B,ALOXE3,C12orf57,CGB2,TVP23B,FLJ25758,GAGE12D, GAGE4,HIST3H2A,LOC116437,MIOX,MS4A13,NPB,OXT, PFN3,PIP,PRPSAP2,SLC16A8,SSX2,UBB,ZNF460 | ADAMTS18,ALOX12B,AVIL,BMX,CCDC129,FAM117B,FAM171A1, GNG13,HTR3C,HTR3E,KLK13,KLK14,LINC01512,PLEKHG7, POU2F3,SH2D6,SH2D7,SYNE2,TAS1R3,TBC1D4,TRPM5 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* 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 |
Interacting Genes (from Pathway Commons) |
Top |
Pharmacological Information for ALOX12B |
There's no related Drug. |
Top |
Cross referenced IDs for ALOX12B |
* 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 @ |