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Fusion gene ID: 1867 |
FusionGeneSummary for ANKRD50_ATP2B1 |
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Fusion gene information | Fusion gene name: ANKRD50_ATP2B1 | Fusion gene ID: 1867 | Hgene | Tgene | Gene symbol | ANKRD50 | ATP2B1 | Gene ID | 57182 | 490 |
Gene name | ankyrin repeat domain 50 | ATPase plasma membrane Ca2+ transporting 1 | |
Synonyms | - | PMCA1|PMCA1kb | |
Cytomap | 4q28.1 | 12q21.33 | |
Type of gene | protein-coding | protein-coding | |
Description | ankyrin repeat domain-containing protein 50 | plasma membrane calcium-transporting ATPase 1ATPase, Ca++ transporting, plasma membrane 1plasma membrane calcium pump | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9ULJ7 | P20020 | |
Ensembl transtripts involved in fusion gene | ENST00000504087, ENST00000515641, | ENST00000348959, ENST00000261173, ENST00000359142, ENST00000428670, ENST00000393164, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 4 X 4=64 |
# samples | 2 | 4 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ANKRD50 [Title/Abstract] AND ATP2B1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | ATP2B1 | GO:0051480 | regulation of cytosolic calcium ion concentration | 18029012 |
Tgene | ATP2B1 | GO:1990034 | calcium ion export across plasma membrane | 18029012 |
![]() (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-E2-A14R-01A | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
* 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 | ENST00000504087 | ENST00000348959 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
Frame-shift | ENST00000504087 | ENST00000261173 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
Frame-shift | ENST00000504087 | ENST00000359142 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
Frame-shift | ENST00000504087 | ENST00000428670 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
5CDS-intron | ENST00000504087 | ENST00000393164 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
intron-3CDS | ENST00000515641 | ENST00000348959 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
intron-3CDS | ENST00000515641 | ENST00000261173 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
intron-3CDS | ENST00000515641 | ENST00000359142 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
intron-3CDS | ENST00000515641 | ENST00000428670 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
intron-intron | ENST00000515641 | ENST00000393164 | ANKRD50 | chr4 | 125631155 | - | ATP2B1 | chr12 | 90029028 | - |
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FusionProtFeatures for ANKRD50_ATP2B1 |
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Hgene | Tgene |
ANKRD50 | ATP2B1 |
Involved in the endosome-to-plasma membrane traffickingand recycling of SNX27-retromer-dependent cargo proteins, such asGLUT1 (PubMed:25278552). | This magnesium-dependent enzyme catalyzes the hydrolysisof ATP coupled with the transport of calcium out of the cell. |
![]() * 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 |
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FusionGeneSequence for ANKRD50_ATP2B1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ANKRD50_ATP2B1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ANKRD50 | APP, ZDHHC17, ARL13B, CLNK, XPO1, SMURF1, ZNF414, DDX41, C4orf26, PTPN14 | ATP2B1 | TERF2, CSNK2A1, ERBB2IP, PARK2, LGR4, PTPLAD1, CCDC8, RNF2, EGFR, HSD17B6, UNK, ATP1A1, GNB2, HM13, IDH3A, CANX, CLGN, NTRK1, NPHP1, RPGRIP1L, TMEM17, CCND1, SRPR, RAB7A, TOMM40, ATL3, TMEM63B, CENPO, TUBA1C, ETS1, CDH1, CTDSPL, TRIM25, CALM1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ANKRD50_ATP2B1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ANKRD50_ATP2B1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | ATP2B1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | ATP2B1 | C0086543 | Cataract | 1 | CTD_human |
Tgene | ATP2B1 | C1956346 | Coronary Artery Disease | 1 | CTD_human |