![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 3424 |
FusionGeneSummary for ATP6AP1_CPB1 |
![]() |
Fusion gene information | Fusion gene name: ATP6AP1_CPB1 | Fusion gene ID: 3424 | Hgene | Tgene | Gene symbol | ATP6AP1 | CPB1 | Gene ID | 537 | 1360 |
Gene name | ATPase H+ transporting accessory protein 1 | carboxypeptidase B1 | |
Synonyms | 16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3 | CPB|PASP|PCPB | |
Cytomap | Xq28 | 3q24 | |
Type of gene | protein-coding | protein-coding | |
Description | V-type proton ATPase subunit S1ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1ATPase, H+ transporting, lysosomal accessory protein 1ATPase, H+ transporting, lysosomal interacting protein 1H-ATPase subunitV-ATPase Ac45 subunitV-A | carboxypeptidase Bcarboxypeptidase B1 (tissue)pancreas-specific proteinpancreatic carboxypeptidase Bprocarboxypeptidase Bprotaminasetissue carboxypeptidase B | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q15904 | P15086 | |
Ensembl transtripts involved in fusion gene | ENST00000369762, ENST00000484908, | ENST00000491148, ENST00000282957, ENST00000498639, | |
Fusion gene scores | * DoF score | 4 X 2 X 3=24 | 21 X 24 X 3=1512 |
# samples | 4 | 19 | |
** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(19/1512*10)=-2.99238681589013 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ATP6AP1 [Title/Abstract] AND CPB1 [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | LD | BRCA | TCGA-GM-A2DM-01A | ATP6AP1 | chrX | 153664862 | + | CPB1 | chr3 | 148552348 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
Frame-shift | ENST00000369762 | ENST00000491148 | ATP6AP1 | chrX | 153664862 | + | CPB1 | chr3 | 148552348 | + |
Frame-shift | ENST00000369762 | ENST00000282957 | ATP6AP1 | chrX | 153664862 | + | CPB1 | chr3 | 148552348 | + |
5CDS-intron | ENST00000369762 | ENST00000498639 | ATP6AP1 | chrX | 153664862 | + | CPB1 | chr3 | 148552348 | + |
intron-3CDS | ENST00000484908 | ENST00000491148 | ATP6AP1 | chrX | 153664862 | + | CPB1 | chr3 | 148552348 | + |
intron-3CDS | ENST00000484908 | ENST00000282957 | ATP6AP1 | chrX | 153664862 | + | CPB1 | chr3 | 148552348 | + |
intron-intron | ENST00000484908 | ENST00000498639 | ATP6AP1 | chrX | 153664862 | + | CPB1 | chr3 | 148552348 | + |
Top |
FusionProtFeatures for ATP6AP1_CPB1 |
![]() |
Hgene | Tgene |
ATP6AP1 | CPB1 |
Accessory subunit of the proton-transporting vacuolar(V)-ATPase protein pump, which is required for luminalacidification of secretory vesicles. Guides the V-type ATPase intospecialized subcellular compartments, such as neuroendocrineregulated secretory vesicles or the ruffled border of theosteoclast, thereby regulating its activity. Involved in membranetrafficking and Ca(2+)-dependent membrane fusion. May play a rolein the assembly of the V-type ATPase complex. In aerobicconditions, involved in intracellular iron homeostasis, thustriggering the activity of Fe(2+) prolyl hydroxylase (PHD)enzymes, and leading to HIF1A hydroxylation and subsequentproteasomal degradation (PubMed:28296633).{ECO:0000269|PubMed:28296633, ECO:0000305|PubMed:27231034}. |
![]() * 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 ATP6AP1_CPB1 |
![]() (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 ATP6AP1_CPB1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ATP6AP1 | ANG, HBA1, SYVN1, FBXO6, ATP6V1C1, HNRNPAB, NR1I2, MOV10, NXF1, ATP6AP2, PICK1, ERBB2, TCTN2, TCTN3, EVC2, TMEM17, TMEM216, TMEM67, DBN1, RAB7A, MYEF2, GOLT1B, RHOU, CTDNEP1, ATP6V0A2, KIAA2013, ATP6V0D1, PTPRO | CPB1 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for ATP6AP1_CPB1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CPB1 | P15086 | DB04272 | Citric Acid | Carboxypeptidase B | small molecule | approved|nutraceutical|vet_approved |
Top |
RelatedDiseases for ATP6AP1_CPB1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATP6AP1 | C0024301 | Lymphoma, Follicular | 1 | CTD_human |