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Fusion gene ID: 27895 |
FusionGeneSummary for POGZ_GBA |
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Fusion gene information | Fusion gene name: POGZ_GBA | Fusion gene ID: 27895 | Hgene | Tgene | Gene symbol | POGZ | GBA | Gene ID | 23126 | 2629 |
Gene name | pogo transposable element derived with ZNF domain | glucosylceramidase beta | |
Synonyms | MRD37|WHSUS|ZNF280E|ZNF635|ZNF635m | GBA1|GCB|GLUC | |
Cytomap | 1q21.3 | 1q22 | |
Type of gene | protein-coding | protein-coding | |
Description | pogo transposable element with ZNF domainputative protein product of Nbla00003zinc finger protein 280Ezinc finger protein 635 | glucosylceramidaseD-glucosyl-N-acylsphingosine glucohydrolaseacid beta-glucosidasealglucerasebeta-GCbeta-glucocerebrosidaseglucosidase, beta, acidglucosylceramidase-like proteinimigluceraselysosomal glucocerebrosidase | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | Q7Z3K3 | P04062 | |
Ensembl transtripts involved in fusion gene | ENST00000392723, ENST00000361398, ENST00000271715, ENST00000368863, ENST00000409503, ENST00000531094, ENST00000540984, ENST00000491586, | ENST00000368373, ENST00000327247, ENST00000427500, ENST00000536770, ENST00000428024, ENST00000493842, | |
Fusion gene scores | * DoF score | 8 X 6 X 6=288 | 4 X 3 X 4=48 |
# samples | 8 | 4 | |
** MAII score | log2(8/288*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: POGZ [Title/Abstract] AND GBA [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 | GBA | GO:0032463 | negative regulation of protein homooligomerization | 26392287 |
Tgene | GBA | GO:0032715 | negative regulation of interleukin-6 production | 19279008 |
Tgene | GBA | GO:0043243 | positive regulation of protein complex disassembly | 26392287 |
![]() (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 | BRCA | TCGA-A2-A04U-01A | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
* 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 |
5CDS-5UTR | ENST00000392723 | ENST00000368373 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000392723 | ENST00000327247 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000392723 | ENST00000427500 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000392723 | ENST00000536770 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-intron | ENST00000392723 | ENST00000428024 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000392723 | ENST00000493842 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000361398 | ENST00000368373 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000361398 | ENST00000327247 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000361398 | ENST00000427500 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000361398 | ENST00000536770 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-intron | ENST00000361398 | ENST00000428024 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000361398 | ENST00000493842 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000271715 | ENST00000368373 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000271715 | ENST00000327247 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000271715 | ENST00000427500 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000271715 | ENST00000536770 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-intron | ENST00000271715 | ENST00000428024 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000271715 | ENST00000493842 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000368863 | ENST00000368373 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000368863 | ENST00000327247 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000368863 | ENST00000427500 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000368863 | ENST00000536770 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-intron | ENST00000368863 | ENST00000428024 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000368863 | ENST00000493842 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000409503 | ENST00000368373 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000409503 | ENST00000327247 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000409503 | ENST00000427500 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000409503 | ENST00000536770 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-intron | ENST00000409503 | ENST00000428024 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000409503 | ENST00000493842 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000531094 | ENST00000368373 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000531094 | ENST00000327247 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000531094 | ENST00000427500 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000531094 | ENST00000536770 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-intron | ENST00000531094 | ENST00000428024 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000531094 | ENST00000493842 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5UTR-5UTR | ENST00000540984 | ENST00000368373 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5UTR-5UTR | ENST00000540984 | ENST00000327247 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5UTR-5UTR | ENST00000540984 | ENST00000427500 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5UTR-5UTR | ENST00000540984 | ENST00000536770 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5UTR-intron | ENST00000540984 | ENST00000428024 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5UTR-5UTR | ENST00000540984 | ENST00000493842 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000491586 | ENST00000368373 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000491586 | ENST00000327247 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000491586 | ENST00000427500 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000491586 | ENST00000536770 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-intron | ENST00000491586 | ENST00000428024 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
5CDS-5UTR | ENST00000491586 | ENST00000493842 | POGZ | chr1 | 151395873 | - | GBA | chr1 | 155210971 | - |
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FusionProtFeatures for POGZ_GBA |
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Hgene | Tgene |
POGZ | GBA |
![]() * 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 POGZ_GBA |
![]() (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 POGZ_GBA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
POGZ | SP1, CREB1, NFYC, VAV2, CBX1, CBX3, SIRT7, APP, MDC1, CBX5, CDK6, DAB1, GABPB1, NFYA, NRF1, POU2F1, HGS, DAZAP2, ZBTB24, RBPMS, BANP, ZXDC, PRR20A, ENO1, MOV10, NXF1, HIST3H3, HDGFRP2, MAD2L2, CHAMP1, ZMYM4, EED, RNF2, SUMO2, TMEM171, XPO1, ING4, FOXG1, FOXJ2, FOXQ1, USP37, NFATC2, ZNF428, ZNF576, LCOR, CD4, NR3C1 | GBA | NEDD4, HSP90AA1, HSPA4, TCP1, PARK2, CBL, FBXO6, SNCA, ATP6V1B1, ITCH, NUDCD1, PCBP2, NTRK1, ATP5J, CANX, DHCR24, FMR1, HSPD1, RPS6KA3, HSP90B1, CCT3, TOP3B, SCAMP3, INADL, HYOU1, CCT8, ZMYND11, B4GALT7, SKIV2L2, IMP3, BMP2K, ZCCHC8, FGD6, RNF20, JPH1, ZFP91, RAB27B, HCCS, COMT, RAB14, RAB21, POMK, ARL8B, RDH11, ESYT1 |
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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 POGZ_GBA |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | GBA | P04062 | DB06720 | Velaglucerase alfa | Glucosylceramidase | biotech | approved|investigational |
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RelatedDiseases for POGZ_GBA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | GBA | C1961835 | Gaucher Disease, Type 1 | 40 | ORPHANET;UNIPROT |
Tgene | GBA | C0268250 | Gaucher Disease, Type 2 (disorder) | 12 | ORPHANET;UNIPROT |
Tgene | GBA | C0017205 | Gaucher Disease | 5 | CTD_human |
Tgene | GBA | C0030567 | Parkinson Disease | 2 | CTD_human |
Tgene | GBA | C0020542 | Pulmonary Hypertension | 1 | CTD_human;HPO |
Tgene | GBA | C0242422 | Parkinsonian Disorders | 1 | CTD_human |
Tgene | GBA | C0268251 | Gaucher Disease, Type 3 (disorder) | 1 | ORPHANET;UNIPROT |
Tgene | GBA | C0752347 | Lewy Body Disease | 1 | CTD_human |