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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CA14 |
Basic gene info. | Gene symbol | CA14 |
Gene name | carbonic anhydrase XIV | |
Synonyms | CAXiV | |
Cytomap | UCSC genome browser: 1q21 | |
Genomic location | chr1 :150230217-150237480 | |
Type of gene | protein-coding | |
RefGenes | NM_012113.1, | |
Ensembl id | ENSG00000264654 | |
Description | CA-XIVcarbonate dehydratase XIVcarbonic anhydrase 14carbonic dehydratase | |
Modification date | 20141207 | |
dbXrefs | MIM : 604832 | |
HGNC : HGNC | ||
Ensembl : ENSG00000118298 | ||
HPRD : 05320 | ||
Vega : OTTHUMG00000012549 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CA14 | |
BioGPS: 23632 | ||
Gene Expression Atlas: ENSG00000264654 | ||
The Human Protein Atlas: ENSG00000264654 | ||
Pathway | NCI Pathway Interaction Database: CA14 | |
KEGG: CA14 | ||
REACTOME: CA14 | ||
ConsensusPathDB | ||
Pathway Commons: CA14 | ||
Metabolism | MetaCyc: CA14 | |
HUMANCyc: CA14 | ||
Regulation | Ensembl's Regulation: ENSG00000264654 | |
miRBase: chr1 :150,230,217-150,237,480 | ||
TargetScan: NM_012113 | ||
cisRED: ENSG00000264654 | ||
Context | iHOP: CA14 | |
cancer metabolism search in PubMed: CA14 | ||
UCL Cancer Institute: CA14 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for CA14(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: CA14 |
Familial Cancer Database: CA14 |
* 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_NITROGEN_METABOLISM |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: CA14 |
MedGen: CA14 (Human Medical Genetics with Condition) | |
ClinVar: CA14 | |
Phenotype | MGI: CA14 (International Mouse Phenotyping Consortium) |
PhenomicDB: CA14 |
Mutations for CA14 |
* 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 |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows CA14 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 |
AA094140 | CA14 | 2 | 52 | 1 | 150230402 | 150230452 | SSNA1 | 47 | 256 | 9 | 140084464 | 140084677 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=28) | (# total SNVs=7) |
(# total SNVs=6) | (# total SNVs=0) |
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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 |
chr1:150234017-150234017 | p.L79P | 1 |
chr1:150235799-150235799 | p.V274V | 1 |
chr1:150234978-150234978 | p.E152Q | 1 |
chr1:150233919-150233919 | p.S46S | 1 |
chr1:150235547-150235547 | p.Q223H | 1 |
chr1:150234556-150234556 | p.? | 1 |
chr1:150235807-150235807 | p.S277Y | 1 |
chr1:150234978-150234979 | p.R153fs*12 | 1 |
chr1:150233921-150233921 | p.P47L | 1 |
chr1:150235560-150235560 | p.T228A | 1 |
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SNV Counts per Each Loci in TCGA data |
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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 |   | 3 | 2 | 1 |   |   | 3 |   | 2 |   |   | 1 | 2 | 2 |   | 1 | 3 | 5 |   | 6 |
# mutation |   | 3 | 2 | 1 |   |   | 3 |   | 2 |   |   | 2 | 2 | 2 |   | 1 | 3 | 5 |   | 6 |
nonsynonymous SNV |   | 3 | 2 | 1 |   |   | 2 |   | 2 |   |   | 1 | 2 | 2 |   | 1 |   | 3 |   | 5 |
synonymous SNV |   |   |   |   |   |   | 1 |   |   |   |   | 1 |   |   |   |   | 3 | 2 |   | 1 |
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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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 |
chr1:150235516 | p.R101R | 1 |
chr1:150236224 | p.S284L | 1 |
chr1:150234014 | p.W112L | 1 |
chr1:150235522 | p.S284S | 1 |
chr1:150236243 | p.A132A | 1 |
chr1:150234016 | p.I297M | 1 |
chr1:150235547 | p.E152Q | 1 |
chr1:150237017 | p.L298F | 1 |
chr1:150234601 | p.L157M | 1 |
chr1:150235560 | p.L305F | 1 |
Other DBs for Point Mutations |
Copy Number for CA14 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] |
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Gene Expression for CA14 |
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)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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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 |
ABHD12,ABHD14A,ADIRF,CA14,CYB5D2,DUSP15,EML2, FLJ45983,HPN,LOC100190938,LOC284276,NDUFS8,NHLRC4,NPRL2, OR5M3,OR5M8,OR5R1,P4HTM,SERPINI1,SFXN2,TEX264 | RBFOX1,AMPD1,ANKRD23,ASB16,ASB4,ASB5,CA14, CACNG1,CALML6,CAPN3,CLCN1,CMYA5,FITM1,JPH1, MYOZ3,OBSCN,PFKM,RYR1,SRPK3,TMEM38A,UCP3 | ||||
ABCA7,ABCC11,ASIC3,ARMC7,CA14,CLCN1,CSTB, DGKA,DMBX1,ENDOV,KIF14,LOC100131691,OR4C3,PRICKLE4, ROPN1B,RUSC1,SLC44A2,SLC45A3,SLC47A2,SNX24,TDRD12 | ASIC1,ARHGEF4,ATP1A2,BVES,NPR3,CA14,CAMK2G, DACT3,DNAJB5,KCTD8,KY,LDB3,MYOM1,PDLIM7, PLCD4,PNCK,PYGM,SMTN,TGFB1I1,THBS4,TPM2 |
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 |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for CA14 |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00819 | carbonic anhydrase XIV | approved | Acetazolamide | ||
DB00909 | carbonic anhydrase XIV | approved; investigational | Zonisamide | ||
DB02687 | carbonic anhydrase XIV | experimental | Beta-D-Mannose |
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Cross referenced IDs for CA14 |
* 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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