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Fusion gene ID: 26759 |
FusionGeneSummary for PFKFB4_COL7A1 |
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Fusion gene information | Fusion gene name: PFKFB4_COL7A1 | Fusion gene ID: 26759 | Hgene | Tgene | Gene symbol | PFKFB4 | COL7A1 | Gene ID | 5210 | 1294 |
Gene name | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 | collagen type VII alpha 1 chain | |
Synonyms | - | EBD1|EBDCT|EBR1|NDNC8 | |
Cytomap | 3p21.31 | 3p21.31 | |
Type of gene | protein-coding | protein-coding | |
Description | 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 46PF-2-K/Fru-2,6-P2ase 46PF-2-K/Fru-2,6-P2ase testis-type isozymePFK/FBPase 4bifunctional enzyme with kinase and biphosphatase activities | collagen alpha-1(VII) chainLC collagencollagen VII, alpha-1 polypeptidecollagen, type VII, alpha 1long-chain collagen | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q16877 | Q02388 | |
Ensembl transtripts involved in fusion gene | ENST00000232375, ENST00000536104, ENST00000416568, ENST00000541519, ENST00000383734, ENST00000490115, ENST00000545984, | ENST00000454817, ENST00000328333, ENST00000470076, | |
Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 4 X 4 X 3=48 |
# samples | 5 | 4 | |
** MAII score | log2(5/100*10)=-1 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: PFKFB4 [Title/Abstract] AND COL7A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Kinase involved fusion gene, inframe and retained kinase domain. |
* 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 |
![]() (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 | HNSC | TCGA-CV-5432-01A | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
* 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 |
In-frame | ENST00000232375 | ENST00000454817 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
In-frame | ENST00000232375 | ENST00000328333 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
5CDS-intron | ENST00000232375 | ENST00000470076 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
In-frame | ENST00000536104 | ENST00000454817 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
In-frame | ENST00000536104 | ENST00000328333 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
5CDS-intron | ENST00000536104 | ENST00000470076 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
In-frame | ENST00000416568 | ENST00000454817 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
In-frame | ENST00000416568 | ENST00000328333 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
5CDS-intron | ENST00000416568 | ENST00000470076 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
Frame-shift | ENST00000541519 | ENST00000454817 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
Frame-shift | ENST00000541519 | ENST00000328333 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
5CDS-intron | ENST00000541519 | ENST00000470076 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
In-frame | ENST00000383734 | ENST00000454817 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
In-frame | ENST00000383734 | ENST00000328333 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
5CDS-intron | ENST00000383734 | ENST00000470076 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
5UTR-3CDS | ENST00000490115 | ENST00000454817 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
5UTR-3CDS | ENST00000490115 | ENST00000328333 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
5UTR-intron | ENST00000490115 | ENST00000470076 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
intron-3CDS | ENST00000545984 | ENST00000454817 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
intron-3CDS | ENST00000545984 | ENST00000328333 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
intron-intron | ENST00000545984 | ENST00000470076 | PFKFB4 | chr3 | 48559419 | - | COL7A1 | chr3 | 48608711 | - |
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FusionProtFeatures for PFKFB4_COL7A1 |
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Hgene | Tgene |
PFKFB4 | COL7A1 |
Synthesis and degradation of fructose 2,6-bisphosphate. | Stratified squamous epithelial basement membrane proteinthat forms anchoring fibrils which may contribute to epithelialbasement membrane organization and adherence by interacting withextracellular matrix (ECM) proteins such as type IV collagen. |
![]() * 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 |
Hgene | PFKFB4 | chr3:48559419 | chr3:48608711 | ENST00000232375 | - | 13 | 14 | 168_173 | 450 | 470 | Nucleotide binding | ATP |
Hgene | PFKFB4 | chr3:48559419 | chr3:48608711 | ENST00000232375 | - | 13 | 14 | 348_351 | 450 | 470 | Nucleotide binding | ATP |
Hgene | PFKFB4 | chr3:48559419 | chr3:48608711 | ENST00000232375 | - | 13 | 14 | 392_396 | 450 | 470 | Nucleotide binding | ATP |
Hgene | PFKFB4 | chr3:48559419 | chr3:48608711 | ENST00000232375 | - | 13 | 14 | 46_54 | 450 | 470 | Nucleotide binding | ATP |
Hgene | PFKFB4 | chr3:48559419 | chr3:48608711 | ENST00000232375 | - | 13 | 14 | 1_249 | 450 | 470 | Region | Note=6-phosphofructo-2-kinase |
Tgene | >COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 2872_2944 | 2356 | 2945 | Domain | BPTI/Kunitz inhibitor |
Tgene | >COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 2872_2944 | 2324 | 2913 | Domain | BPTI/Kunitz inhibitor |
Tgene | >COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 2553_2555 | 2356 | 2945 | Motif | Cell attachment site |
Tgene | >COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 2553_2555 | 2324 | 2913 | Motif | Cell attachment site |
Tgene | >COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 2785_2944 | 2356 | 2945 | Region | Note=Nonhelical region (NC2) |
Tgene | >COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 2785_2944 | 2324 | 2913 | Region | Note=Nonhelical region (NC2) |
- 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 |
Hgene | >PFKFB4 | chr3:48559419 | chr3:48608711 | ENST00000232375 | - | 13 | 14 | 250_469 | 450 | 470 | Region | Note=Fructose-2%2C6-bisphosphatase |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 1054_1229 | 2356 | 2945 | Domain | VWFA 2 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 234_329 | 2356 | 2945 | Domain | Fibronectin type-III 1 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 330_416 | 2356 | 2945 | Domain | Fibronectin type-III 2 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 38_211 | 2356 | 2945 | Domain | VWFA 1 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 417_507 | 2356 | 2945 | Domain | Fibronectin type-III 3 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 510_597 | 2356 | 2945 | Domain | Fibronectin type-III 4 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 600_687 | 2356 | 2945 | Domain | Fibronectin type-III 5 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 688_775 | 2356 | 2945 | Domain | Fibronectin type-III 6 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 778_866 | 2356 | 2945 | Domain | Fibronectin type-III 7 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 869_957 | 2356 | 2945 | Domain | Fibronectin type-III 8 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 958_1051 | 2356 | 2945 | Domain | Fibronectin type-III 9 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 1054_1229 | 2324 | 2913 | Domain | VWFA 2 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 234_329 | 2324 | 2913 | Domain | Fibronectin type-III 1 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 330_416 | 2324 | 2913 | Domain | Fibronectin type-III 2 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 38_211 | 2324 | 2913 | Domain | VWFA 1 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 417_507 | 2324 | 2913 | Domain | Fibronectin type-III 3 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 510_597 | 2324 | 2913 | Domain | Fibronectin type-III 4 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 600_687 | 2324 | 2913 | Domain | Fibronectin type-III 5 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 688_775 | 2324 | 2913 | Domain | Fibronectin type-III 6 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 778_866 | 2324 | 2913 | Domain | Fibronectin type-III 7 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 869_957 | 2324 | 2913 | Domain | Fibronectin type-III 8 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 958_1051 | 2324 | 2913 | Domain | Fibronectin type-III 9 |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 1170_1172 | 2356 | 2945 | Motif | Cell attachment site |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 1334_1336 | 2356 | 2945 | Motif | Cell attachment site |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 2008_2010 | 2356 | 2945 | Motif | Cell attachment site |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 1170_1172 | 2324 | 2913 | Motif | Cell attachment site |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 1334_1336 | 2324 | 2913 | Motif | Cell attachment site |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 2008_2010 | 2324 | 2913 | Motif | Cell attachment site |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 1254_1477 | 2356 | 2945 | Region | Note=Interrupted collagenous region |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 1254_2784 | 2356 | 2945 | Region | Note=Triple-helical region |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000328333 | - | 90 | 118 | 17_1253 | 2356 | 2945 | Region | Note=Nonhelical region (NC1) |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 1254_1477 | 2324 | 2913 | Region | Note=Interrupted collagenous region |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 1254_2784 | 2324 | 2913 | Region | Note=Triple-helical region |
Tgene | COL7A1 | chr3:48559419 | chr3:48608711 | ENST00000454817 | - | 89 | 117 | 17_1253 | 2324 | 2913 | Region | Note=Nonhelical region (NC1) |
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FusionGeneSequence for PFKFB4_COL7A1 |
![]() (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 PFKFB4_COL7A1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PFKFB4 | GSK3B, CSNK2B, GADD45A, NXF1, PFKFB3 | COL7A1 | FN1, LAMA5, COL1A1, COL4A1, LAMB3, LAMC2, THBS1, LRRC57, MOV10, NXF1, NFKBIA, SNCA |
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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 PFKFB4_COL7A1 |
![]() (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 PFKFB4_COL7A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | COL7A1 | C0079474 | Hallopeau-Siemens Disease | 16 | ORPHANET;UNIPROT |
Tgene | COL7A1 | C0432322 | Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) | 15 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL7A1 | C1851573 | Transient bullous dermolysis of the newborn | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL7A1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | COL7A1 | C0432321 | Epidermolysis bullosa, pretibial | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
Tgene | COL7A1 | C1275114 | Epidermolysis Bullosa Pruriginosa | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL7A1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | COL7A1 | C1843761 | TOENAIL DYSTROPHY, ISOLATED | 1 | CTD_human;UNIPROT |