|
Fusion gene ID: 3440 |
FusionGeneSummary for ATP6V0A1_STAT5A |
Fusion gene summary |
Fusion gene information | Fusion gene name: ATP6V0A1_STAT5A | Fusion gene ID: 3440 | Hgene | Tgene | Gene symbol | ATP6V0A1 | STAT5A | Gene ID | 535 | 6776 |
Gene name | ATPase H+ transporting V0 subunit a1 | signal transducer and activator of transcription 5A | |
Synonyms | ATP6N1|ATP6N1A|Stv1|VPP1|Vph1|a1 | MGF|STAT5 | |
Cytomap | 17q21.2 | 17q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | V-type proton ATPase 116 kDa subunit a isoform 1V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, lysosomal V0 subunit a1ATPase, H+ transporting, lysosomal non-catalytic accessory protein 1 (110/116kD)H(+)-transporting two-sector ATPase, | signal transducer and activator of transcription 5A | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q93050 | P42229 | |
Ensembl transtripts involved in fusion gene | ENST00000393829, ENST00000546249, ENST00000537728, ENST00000264649, ENST00000585525, ENST00000343619, ENST00000544137, ENST00000587797, | ENST00000345506, ENST00000590949, ENST00000546010, ENST00000452307, ENST00000588868, ENST00000587646, | |
Fusion gene scores | * DoF score | 14 X 13 X 7=1274 | 3 X 3 X 3=27 |
# samples | 14 | 4 | |
** MAII score | log2(14/1274*10)=-3.18586654531133 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ATP6V0A1 [Title/Abstract] AND STAT5A [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | BLCA | TCGA-BT-A20U-01A | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-5UTR | ENST00000393829 | ENST00000345506 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000393829 | ENST00000590949 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000393829 | ENST00000546010 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000393829 | ENST00000452307 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000393829 | ENST00000588868 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000393829 | ENST00000587646 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000546249 | ENST00000345506 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000546249 | ENST00000590949 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000546249 | ENST00000546010 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000546249 | ENST00000452307 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000546249 | ENST00000588868 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000546249 | ENST00000587646 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000537728 | ENST00000345506 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000537728 | ENST00000590949 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000537728 | ENST00000546010 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000537728 | ENST00000452307 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000537728 | ENST00000588868 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000537728 | ENST00000587646 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000264649 | ENST00000345506 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000264649 | ENST00000590949 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000264649 | ENST00000546010 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000264649 | ENST00000452307 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000264649 | ENST00000588868 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000264649 | ENST00000587646 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000585525 | ENST00000345506 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000585525 | ENST00000590949 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000585525 | ENST00000546010 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000585525 | ENST00000452307 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000585525 | ENST00000588868 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000585525 | ENST00000587646 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000343619 | ENST00000345506 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000343619 | ENST00000590949 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000343619 | ENST00000546010 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000343619 | ENST00000452307 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000343619 | ENST00000588868 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000343619 | ENST00000587646 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000544137 | ENST00000345506 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-5UTR | ENST00000544137 | ENST00000590949 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000544137 | ENST00000546010 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000544137 | ENST00000452307 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000544137 | ENST00000588868 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
5UTR-intron | ENST00000544137 | ENST00000587646 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
intron-5UTR | ENST00000587797 | ENST00000345506 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
intron-5UTR | ENST00000587797 | ENST00000590949 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
intron-intron | ENST00000587797 | ENST00000546010 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
intron-intron | ENST00000587797 | ENST00000452307 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
intron-intron | ENST00000587797 | ENST00000588868 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
intron-intron | ENST00000587797 | ENST00000587646 | ATP6V0A1 | chr17 | 40610981 | + | STAT5A | chr17 | 40440074 | + |
Top |
FusionProtFeatures for ATP6V0A1_STAT5A |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ATP6V0A1 | STAT5A |
Required for assembly and activity of the vacuolarATPase. Potential role in differential targeting and regulation ofthe enzyme for a specific organelle (By similarity).{ECO:0000250}. | Carries out a dual function: signal transduction andactivation of transcription. Mediates cellular responses to thecytokine KITLG/SCF and other growth factors. Mediates cellularresponses to ERBB4. May mediate cellular responses to activatedFGFR1, FGFR2, FGFR3 and FGFR4. Binds to the GAS element andactivates PRL-induced transcription. Regulates the expression ofmilk proteins during lactation. {ECO:0000269|PubMed:15534001}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for ATP6V0A1_STAT5A |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for ATP6V0A1_STAT5A |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ATP6V0A1 | ATP6V1B1, ATP6V1E1, ATP6V1D, PTRH2, MRPL50, MRPL46, SCFD1, MARCKSL1, PA2G4, RPS15, SLC25A3, SLC30A5, SRSF3, VAMP2, MRPL44, NONO, RPS18, CLIC1, SNX4, ZNF267, SEH1L, HLA-DQA1, HOXB5, MUC1, NUFIP1, CEACAM21, LGALS8, GNAZ, MCAM, ATP6AP2, TMEM185A, SERINC2, C17orf59, ATP5O, ATP6V0D1, NTRK1, TCTN3, TMEM216, TMEM67, CLTC, PTPN1, RAB5C, RAB7A, TFG, GOLT1B, CHMP4B, ATP6V0D2, KIAA2013, ATP6V0A2, BCAM, ATP6V0E1, SLC34A2, TMEM199, GPR114, MTUS2, SMPD3, TMEM63A, RNF19B, TLDC1, HTR3A, CD4, RGS20, SLC35D3, FZD10, MGST3, FAM131B, PTGIR | STAT5A | JAK3, MAGEA12, PRTFDC1, ERBB4, EGFR, IL2RB, JAK2, ESR1, ESR2, PTPN11, CRKL, JAK1, BRCA1, BRCA2, MAPK1, SHC1, NMI, CD247, EPOR, PTPN1, NCOA1, HDAC1, CARM1, PRMT1, SMARCA4, FGFR2, PGR, GNB2, SQSTM1, MYB, EP300, NFKB1, SOCS7, BTK, INSR, CBL, CYP2C9, RBMX, AQP11, CSNK2B, EPAS1, FN1, GLUD1, STAT5A, UGT2B4, HELZ, TXNDC11, MRPS6, ZNF596, WASH2P, POM121C, LEF1, TCF12, PPARG, RUNX2, NLK, NARF, OLIG1, ADD3, DLAT, PDHA1, PDHB, ICAM5, PDHX, GDF15, FARS2, RNF13, R3HDM2, ERMP1, ILKAP, KRT87P, SPICE1, CRK, PDGFRB, STAT1, GHR, CTLA4, CBX5, STAT5B, TLR2, PDK2, PDK3, KLHL7 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for ATP6V0A1_STAT5A |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ATP6V0A1_STAT5A |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | STAT5A | C0024667 | Animal Mammary Neoplasms | 5 | CTD_human |
Tgene | STAT5A | C0024668 | Mammary Neoplasms, Experimental | 3 | CTD_human |
Tgene | STAT5A | C0001418 | Adenocarcinoma | 2 | CTD_human |
Tgene | STAT5A | C0007124 | Noninfiltrating Intraductal Carcinoma | 1 | CTD_human |
Tgene | STAT5A | C0024121 | Lung Neoplasms | 1 | CTD_human |
Tgene | STAT5A | C0032927 | Precancerous Conditions | 1 | CTD_human |
Tgene | STAT5A | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Tgene | STAT5A | C0206692 | Carcinoma, Lobular | 1 | CTD_human |
Tgene | STAT5A | C1176475 | Ductal Carcinoma | 1 | CTD_human |
Tgene | STAT5A | C1458155 | Mammary Neoplasms | 1 | CTD_human |