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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for PHKA1 |
Basic gene info. | Gene symbol | PHKA1 |
Gene name | phosphorylase kinase, alpha 1 (muscle) | |
Synonyms | PHKA | |
Cytomap | UCSC genome browser: Xq12-q13 | |
Genomic location | chrX :71798663-71934029 | |
Type of gene | protein-coding | |
RefGenes | NM_001122670.1, NM_001172436.1,NM_002637.3, | |
Ensembl id | ENSG00000268579 | |
Description | phosphorylase b kinase regulatory subunit alpha skeletal muscle isoformphosphorylase b kinase regulatory subunit alpha, skeletal muscle isoformphosphorylase kinase alpha M subunitphosphorylase kinase, alpha 1 (muscle), muscle glycogenosis | |
Modification date | 20141219 | |
dbXrefs | MIM : 311870 | |
HGNC : HGNC | ||
Ensembl : ENSG00000067177 | ||
HPRD : 02415 | ||
Vega : OTTHUMG00000022696 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PHKA1 | |
BioGPS: 5255 | ||
Gene Expression Atlas: ENSG00000268579 | ||
The Human Protein Atlas: ENSG00000268579 | ||
Pathway | NCI Pathway Interaction Database: PHKA1 | |
KEGG: PHKA1 | ||
REACTOME: PHKA1 | ||
ConsensusPathDB | ||
Pathway Commons: PHKA1 | ||
Metabolism | MetaCyc: PHKA1 | |
HUMANCyc: PHKA1 | ||
Regulation | Ensembl's Regulation: ENSG00000268579 | |
miRBase: chrX :71,798,663-71,934,029 | ||
TargetScan: NM_001122670 | ||
cisRED: ENSG00000268579 | ||
Context | iHOP: PHKA1 | |
cancer metabolism search in PubMed: PHKA1 | ||
UCL Cancer Institute: PHKA1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for PHKA1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: PHKA1 |
Familial Cancer Database: PHKA1 |
* 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_CARBOHYDRATES REACTOME_GLUCOSE_METABOLISM |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: PHKA1 |
MedGen: PHKA1 (Human Medical Genetics with Condition) | |
ClinVar: PHKA1 | |
Phenotype | MGI: PHKA1 (International Mouse Phenotyping Consortium) |
PhenomicDB: PHKA1 |
Mutations for PHKA1 |
* 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 PHKA1 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 |
AA328772 | PHKA1 | 8 | 85 | X | 71880468 | 71880545 | OLFML2B | 80 | 188 | 1 | 161953016 | 161953124 | |
AI174654 | PHKA1 | 1 | 83 | X | 71800173 | 71800553 | PHKA1 | 80 | 262 | X | 71800508 | 71800690 |
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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=100) | (# total SNVs=20) |
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(# total SNVs=1) | (# total SNVs=0) |
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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 |
chr23:71870282-71870282 | p.R428C | 3 |
chr23:71829473-71829473 | p.? | 2 |
chr23:71822119-71822119 | p.R974R | 2 |
chr23:71843064-71843064 | p.M619V | 2 |
chr23:71804146-71804146 | p.G1084R | 2 |
chr23:71932665-71932665 | p.A65S | 2 |
chr23:71840661-71840661 | p.G684E | 2 |
chr23:71830999-71830999 | p.R802L | 2 |
chr23:71802268-71802268 | p.D1160Y | 2 |
chr23:71821870-71821870 | p.R1015C | 2 |
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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 | 4 | 4 | 1 | 9 | 3 |   | 2 |   | 4 | 2 |   | 9 | 5 | 5 | 1 | 1 | 19 | 7 | 1 | 15 |
# mutation | 4 | 4 | 1 | 10 | 3 |   | 2 |   | 4 | 2 |   | 9 | 5 | 5 | 1 | 1 | 20 | 7 | 1 | 23 |
nonsynonymous SNV | 4 | 3 | 1 | 8 | 2 |   | 1 |   | 3 | 2 |   | 7 | 5 | 5 | 1 | 1 | 16 | 5 |   | 19 |
synonymous SNV |   | 1 |   | 2 | 1 |   | 1 |   | 1 |   |   | 2 |   |   |   |   | 4 | 2 | 1 | 4 |
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 |
chrX:71856223 | p.R428C,PHKA1 | 2 |
chrX:71830999 | p.A65T,PHKA1 | 2 |
chrX:71840645 | p.F689L,PHKA1 | 2 |
chrX:71932665 | p.D1088N,PHKA1 | 2 |
chrX:71870282 | p.R491R,PHKA1 | 2 |
chrX:71802268 | p.R743L,PHKA1 | 2 |
chrX:71830973 | p.R1015H | 1 |
chrX:71802336 | p.R743W,PHKA1 | 1 |
chrX:71840622 | p.E624K,PHKA1 | 1 |
chrX:71875991 | p.I471I,PHKA1 | 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 PHKA1 |
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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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APOOL,ATRX,CLCN3,FAM120C,FAM122B,FAM199X,FBXO21, LARP4,MBTPS2,MED14,OCRL,PEX1,PHKA1,RBM41, RLIM,RPS6KA6,TAF1,TMEM209,YIPF6,ZFX,ZXDB | ASB14,ASB4,CA14,CEP85,CMYA5,STRIP2,FEM1A, JPH1,KCNQ5,MYBPC1,MYLK4,OBSCN,PFKM,PHKA1, PKIA,PPP2R3A,PRKAA2,SLC25A12,TXLNB,UGT3A1,WDR62 |
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AMMECR1,APEX2,ATP11C,ERCC6L,FAM199X,IRAK1,LAS1L, MTMR1,NKRF,NONO,OCRL,PHKA1,PRPS1,RLIM, SLC10A3,SLC25A43,SMS,UBQLN2,UPRT,ZBTB33,ZNF275 | ARMCX3,ARSB,ARSJ,C11orf84,C17orf51,WDPCP,CCDC149, COPS7B,CYB5D1,DAAM1,DHX57,IFT81,INTU,MAGEF1, FAN1,PHKA1,SHANK2,TCOF1,TSR1,TULP3,ZNF154 |
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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 PHKA1 |
There's no related Drug. |
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Cross referenced IDs for PHKA1 |
* 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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