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| Phenotypic Information (metabolism pathway, cancer, disease, phenome) |
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| Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG |
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| Gene Summary for ATP5A1 |
| Basic gene info. | Gene symbol | ATP5A1 |
| Gene name | ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle | |
| Synonyms | ATP5A|ATP5AL2|ATPM|COXPD22|HEL-S-123m|MC5DN4|MOM2|OMR|ORM|hATP1 | |
| Cytomap | UCSC genome browser: 18q21 | |
| Genomic location | chr18 :43664109-43678319 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001001935.2, NM_001001937.1,NM_001257334.1,NM_001257335.1,NM_004046.5, | |
| Ensembl id | ENSG00000152234 | |
| Description | ATP synthase alpha chain, mitochondrialATP synthase subunit alpha, mitochondrialATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscleATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, iso | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 164360 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000152234 | ||
| HPRD : 01258 | ||
| Vega : OTTHUMG00000132637 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ATP5A1 | |
| BioGPS: 498 | ||
| Gene Expression Atlas: ENSG00000152234 | ||
| The Human Protein Atlas: ENSG00000152234 | ||
| Pathway | NCI Pathway Interaction Database: ATP5A1 | |
| KEGG: ATP5A1 | ||
| REACTOME: ATP5A1 | ||
| ConsensusPathDB | ||
| Pathway Commons: ATP5A1 | ||
| Metabolism | MetaCyc: ATP5A1 | |
| HUMANCyc: ATP5A1 | ||
| Regulation | Ensembl's Regulation: ENSG00000152234 | |
| miRBase: chr18 :43,664,109-43,678,319 | ||
| TargetScan: NM_001001935 | ||
| cisRED: ENSG00000152234 | ||
| Context | iHOP: ATP5A1 | |
| cancer metabolism search in PubMed: ATP5A1 | ||
| UCL Cancer Institute: ATP5A1 | ||
| Assigned class in ccmGDB | C | |
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| Phenotypic Information for ATP5A1(metabolism pathway, cancer, disease, phenome) |
 Cancer Description | |
| Cancer | CGAP: ATP5A1 |
| Familial Cancer Database: ATP5A1 | |
| * 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/ |
| Metabolic Pathway Description | |
| REACTOME_METABOLISM_OF_PROTEINS | |
| Others | |
| OMIM | |
| Orphanet | |
| Disease | KEGG Disease: ATP5A1 |
| MedGen: ATP5A1 (Human Medical Genetics with Condition) | |
| ClinVar: ATP5A1 | |
| Phenotype | MGI: ATP5A1 (International Mouse Phenotyping Consortium) |
| PhenomicDB: ATP5A1 | |
| Mutations for ATP5A1 |
| * 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 ATP5A1 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 |
| DA148364 | ATP5A1 | 1 | 241 | 18 | 43671770 | 43678251 | NEFL | 236 | 569 | 8 | 24813798 | 24814131 | |
| BQ640716 | ATP5A1 | 9 | 315 | 18 | 43666118 | 43667066 | ATP5A1 | 310 | 584 | 18 | 43668157 | 43669829 | |
| DA496129 | ATP5A1 | 1 | 452 | 18 | 43669885 | 43678262 | TSC22D1 | 447 | 555 | 13 | 45149664 | 45149772 | |
| AU143199 | PSMC5 | 1 | 210 | 17 | 61908875 | 61909296 | ATP5A1 | 210 | 695 | 18 | 43669875 | 43678287 | |
| BC014208 | HUWE1 | 10 | 1432 | X | 53587310 | 53600869 | ATP5A1 | 1433 | 3280 | 18 | 43664115 | 43678250 | |
| BP259811 | ATP5A1 | 1 | 272 | 18 | 43671735 | 43678247 | MYL12A | 273 | 488 | 18 | 3252279 | 3253401 | |
| BC007607 | ATP5A1 | 38 | 1874 | 18 | 43664115 | 43678239 | BAIAP2L1 | 1875 | 2744 | 7 | 98015039 | 98015908 | |
| BC001637 | HUWE1 | 1 | 1423 | X | 53587310 | 53600869 | ATP5A1 | 1424 | 3271 | 18 | 43664115 | 43678250 | |
| DA521883 | LOC100507412 | 1 | 155 | ? | 112025 | 112179 | ATP5A1 | 156 | 546 | 18 | 43673145 | 43678262 | |
| 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) | 1 | |||||||||||||||||||
| LOSS (# sample) |
| 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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: Non-synonymous mutation, 
: Synonymous mutation, Circle size denotes number of samples. |
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| Somatic Mutation Counts per Tissue in COSMIC data |
| Stat. for Non-Synonymous SNVs (# total SNVs=43) | (# total SNVs=12) |
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(# total SNVs=0) | (# 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 |
| chr18:43664328-43664328 | p.A528S | 6 |
| chr18:43668065-43668065 | p.? | 2 |
| chr18:43669645-43669645 | p.I179M | 2 |
| chr18:43666404-43666404 | p.G411G | 2 |
| chr18:43671703-43671703 | p.H85L | 2 |
| chr18:43671728-43671728 | p.I77F | 2 |
| chr18:43666464-43666464 | p.? | 2 |
| chr18:43666116-43666116 | p.G464G | 2 |
| chr18:43666156-43666156 | p.S451C | 2 |
| chr18:43666187-43666187 | p.R441S | 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 | 1 | 2 | 10 | 2 | 1 | 2 | 1 | 5 | 3 | 1 | 1 | 2 | 3 | 7 | ||||||
| # mutation | 1 | 2 | 10 | 2 | 1 | 2 | 1 | 5 | 3 | 1 | 1 | 2 | 3 | 10 | ||||||
| nonsynonymous SNV | 1 | 1 | 7 | 1 | 2 | 1 | 3 | 3 | 1 | 1 | 1 | 1 | 8 | |||||||
| synonymous SNV | 1 | 3 | 1 | 1 | 2 | 1 | 2 | 2 |
| 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 |
| chr18:43671703 | p.H35R,ATP5A1 | 2 |
| chr18:43666116 | p.G414G,ATP5A1 | 2 |
| chr18:43667040 | p.H256R,ATP5A1 | 1 |
| chr18:43668204 | p.S49P,ATP5A1 | 1 |
| chr18:43671697 | p.H469L,ATP5A1 | 1 |
| chr18:43664517 | p.S245S,ATP5A1 | 1 |
| chr18:43667151 | p.L37R,ATP5A1 | 1 |
| chr18:43668217 | p.F461L,ATP5A1 | 1 |
| chr18:43664567 | p.A232S,ATP5A1 | 1 |
| chr18:43667197 | p.Y445H,ATP5A1 | 1 |
| Other DBs for Point Mutations |
| Copy Number for ATP5A1 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. |
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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 ATP5A1 |
| 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. |
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| 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. |
: Open all plots for all cancer types
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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 |
: Open all plots for all cancer types
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| ATP5A1,TPGS2,C18orf21,RBFA,C18orf25,TIMM21,DYM, FECH,HAUS1,HDHD2,IER3IP1,INO80C,NARS,PIAS2, PIK3C3,RPL17,SEC11C,SMAD2,TXNL1,TXNL4A,ZNF271P | ATP5A1,ATP5B,COQ3,COQ9,COX10,COX5A,CYC1, FH,GYS1,IMMT,MDH2,NDUFA9,NDUFB3,NDUFS2, NDUFS3,NDUFV2,POLDIP2,SLC25A3,UQCR10,UQCRC1,UQCRFS1 | ||||
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| ATP5A1,ATP5B,ATPAF2,RBFA,TIMM21,C1QBP,CNDP2, CXXC1,DLST,EIF4A1,EIF5AL1,ELAC2,FECH,IER3IP1, ME2,MPDU1,NARS,PIAS2,SCO1,TXNL1,TXNL4A | ATP5A1,ATP5B,ATP5C1,ATP5F1,ATP5G3,C2orf47,ETFA, FH,IDH3B,MDH2,MRPL35,MTCH2,NDUFA9,NDUFS3, PPIA,RTN4IP1,SDHB,UQCR10,UQCRC2,UQCRFS1,UQCRHL |
| 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 |
: Open all plots for all cancer types
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| Interacting Genes (from Pathway Commons) |
: Open all interacting genes' information including KEGG pathway for all interacting genes from DAVID
| Top |
| Pharmacological Information for ATP5A1 |
| 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. |
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| * Drug Centered Interaction Network. |
| DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
| DB04216 | ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle | experimental | Quercetin |  |  |
| DB07384 | ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle | experimental | 1-ACETYL-2-CARBOXYPIPERIDINE |  |  |
| DB07394 | ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle | experimental | AUROVERTIN B |  |  |
| DB08399 | ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle | experimental | PICEATANNOL |  |  |
| DB08629 | ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle | experimental | N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE |  |  |
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| Cross referenced IDs for ATP5A1 |
| * We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
: Open all cross reference information
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