|
Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for AK4 |
Basic gene info. | Gene symbol | AK4 |
Gene name | adenylate kinase 4 | |
Synonyms | AK 4|AK3|AK3L1|AK3L2 | |
Cytomap | UCSC genome browser: 1p31.3 | |
Genomic location | chr1 :65613512-65697828 | |
Type of gene | protein-coding | |
RefGenes | NM_001005353.2, NM_013410.3,NM_203464.2, | |
Ensembl id | ENSG00000162433 | |
Description | AK 4ATP-AMP transphosphorylaseGTP:AMP phosphotransferase AK4, mitochondrialadenylate kinase 3-like 1adenylate kinase 4, mitochondrialadenylate kinase isoenzyme 4, mitochondrialmitochondrial adenylate kinase-3nucleoside-triphosphate-adenylate kinase | |
Modification date | 20141207 | |
dbXrefs | MIM : 103030 | |
HGNC : HGNC | ||
Ensembl : ENSG00000162433 | ||
HPRD : 00048 | ||
Vega : OTTHUMG00000009033 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AK4 | |
BioGPS: 205 | ||
Gene Expression Atlas: ENSG00000162433 | ||
The Human Protein Atlas: ENSG00000162433 | ||
Pathway | NCI Pathway Interaction Database: AK4 | |
KEGG: AK4 | ||
REACTOME: AK4 | ||
ConsensusPathDB | ||
Pathway Commons: AK4 | ||
Metabolism | MetaCyc: AK4 | |
HUMANCyc: AK4 | ||
Regulation | Ensembl's Regulation: ENSG00000162433 | |
miRBase: chr1 :65,613,512-65,697,828 | ||
TargetScan: NM_001005353 | ||
cisRED: ENSG00000162433 | ||
Context | iHOP: AK4 | |
cancer metabolism search in PubMed: AK4 | ||
UCL Cancer Institute: AK4 | ||
Assigned class in ccmGDB | C |
Top |
Phenotypic Information for AK4(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: AK4 |
Familial Cancer Database: AK4 |
* 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_PURINE_METABOLISM |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: AK4 |
MedGen: AK4 (Human Medical Genetics with Condition) | |
ClinVar: AK4 | |
Phenotype | MGI: AK4 (International Mouse Phenotyping Consortium) |
PhenomicDB: AK4 |
Mutations for AK4 |
* 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 |
ovary | AK4 | chr1 | 65689395 | 65689415 | chr1 | 65705647 | 65705667 | |
ovary | AK4 | chr1 | 65695904 | 65695924 | DOCK7 | chr1 | 63128398 | 63128418 |
prostate | AK4 | chr1 | 65688386 | 65690386 | CADPS2 | chr7 | 122396803 | 122398803 |
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 AK4 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 |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   | 1 |   |   | 1 |   | 1 |   | 1 |   | 2 |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   | 1 |   | 2 |   |   |   |   |   |   | |||
LOSS (# sample) |   | 1 |   |   | 1 |   | 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) |
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=18) | (# total SNVs=5) |
(# total SNVs=0) | (# total SNVs=0) |
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 |
chr1:65691814-65691814 | p.L209P | 5 |
chr1:65656473-65656473 | p.E76K | 2 |
chr1:65691785-65691785 | p.T199T | 2 |
chr1:65690488-65690488 | p.P164P | 1 |
chr1:65691815-65691815 | p.L209L | 1 |
chr1:65656505-65656505 | p.L86L | 1 |
chr1:65690506-65690506 | p.R170S | 1 |
chr1:65656509-65656509 | p.D88N | 1 |
chr1:65690556-65690556 | p.? | 1 |
chr1:65684463-65684463 | p.E98K | 1 |
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 | 1 | 2 |   | 6 |   |   | 1 |   | 1 |   |   | 1 |   |   |   |   |   | 1 |   | 2 |
# mutation | 1 | 2 |   | 3 |   |   | 1 |   | 1 |   |   | 1 |   |   |   |   |   | 1 |   | 2 |
nonsynonymous SNV | 1 | 1 |   | 1 |   |   | 1 |   | 1 |   |   |   |   |   |   |   |   |   |   | 1 |
synonymous SNV |   | 1 |   | 2 |   |   |   |   |   |   |   | 1 |   |   |   |   |   | 1 |   | 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]) |
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 |
chr1:65691814 | p.L209P,AK4 | 4 |
chr1:65691785 | p.T199T,AK4 | 2 |
chr1:65656509 | p.T93I,AK4 | 1 |
chr1:65684449 | p.I110M,AK4 | 1 |
chr1:65684501 | p.V135A,AK4 | 1 |
chr1:65684575 | p.D150G,AK4 | 1 |
chr1:65690445 | p.P164P,AK4 | 1 |
chr1:65690488 | p.T197T,AK4 | 1 |
chr1:65691779 | p.L209L,AK4 | 1 |
chr1:65691815 | p.L86L,AK4 | 1 |
Other DBs for Point Mutations |
Copy Number for AK4 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 AK4 |
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 |
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 AK4 |
There's no related Drug. |
Top |
Cross referenced IDs for AK4 |
* 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 @ |