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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 26759

FusionGeneSummary for PFKFB4_COL7A1

check button Fusion gene summary
Fusion gene informationFusion gene name: PFKFB4_COL7A1
Fusion gene ID: 26759
HgeneTgene
Gene symbol

PFKFB4

COL7A1

Gene ID

5210

1294

Gene name6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4collagen type VII alpha 1 chain
Synonyms-EBD1|EBDCT|EBR1|NDNC8
Cytomap

3p21.31

3p21.31

Type of geneprotein-codingprotein-coding
Description6-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 activitiescollagen alpha-1(VII) chainLC collagencollagen VII, alpha-1 polypeptidecollagen, type VII, alpha 1long-chain collagen
Modification date2018052320180523
UniProtAcc

Q16877

Q02388

Ensembl transtripts involved in fusion geneENST00000232375, ENST00000536104, 
ENST00000416568, ENST00000541519, 
ENST00000383734, ENST00000490115, 
ENST00000545984, 		ENST00000454817, 
ENST00000328333, ENST00000470076, 
Fusion gene scores* DoF score5 X 5 X 4=1004 X 4 X 3=48
# samples 54
** MAII scorelog2(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 annotationKinase 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDHNSCTCGA-CV-5432-01APFKFB4chr3

48559419

-COL7A1chr3

48608711

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000232375ENST00000454817PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
In-frameENST00000232375ENST00000328333PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
5CDS-intronENST00000232375ENST00000470076PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
In-frameENST00000536104ENST00000454817PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
In-frameENST00000536104ENST00000328333PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
5CDS-intronENST00000536104ENST00000470076PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
In-frameENST00000416568ENST00000454817PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
In-frameENST00000416568ENST00000328333PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
5CDS-intronENST00000416568ENST00000470076PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
Frame-shiftENST00000541519ENST00000454817PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
Frame-shiftENST00000541519ENST00000328333PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
5CDS-intronENST00000541519ENST00000470076PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
In-frameENST00000383734ENST00000454817PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
In-frameENST00000383734ENST00000328333PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
5CDS-intronENST00000383734ENST00000470076PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
5UTR-3CDSENST00000490115ENST00000454817PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
5UTR-3CDSENST00000490115ENST00000328333PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
5UTR-intronENST00000490115ENST00000470076PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
intron-3CDSENST00000545984ENST00000454817PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
intron-3CDSENST00000545984ENST00000328333PFKFB4chr3

48559419

-COL7A1chr3

48608711

-
intron-intronENST00000545984ENST00000470076PFKFB4chr3

48559419

-COL7A1chr3

48608711

-

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FusionProtFeatures for PFKFB4_COL7A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PFKFB4

Q16877

COL7A1

Q02388

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.

check buttonRetention 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

download page

.

* 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.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePFKFB4chr3:48559419chr3:48608711ENST00000232375-1314168_173450470Nucleotide bindingATP
HgenePFKFB4chr3:48559419chr3:48608711ENST00000232375-1314348_351450470Nucleotide bindingATP
HgenePFKFB4chr3:48559419chr3:48608711ENST00000232375-1314392_396450470Nucleotide bindingATP
HgenePFKFB4chr3:48559419chr3:48608711ENST00000232375-131446_54450470Nucleotide bindingATP
HgenePFKFB4chr3:48559419chr3:48608711ENST00000232375-13141_249450470RegionNote=6-phosphofructo-2-kinase
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-901182872_294423562945DomainBPTI/Kunitz inhibitor
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-891172872_294423242913DomainBPTI/Kunitz inhibitor
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-901182553_255523562945MotifCell attachment site
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-891172553_255523242913MotifCell attachment site
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-901182785_294423562945RegionNote=Nonhelical region (NC2)
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-891172785_294423242913RegionNote=Nonhelical region (NC2)

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePFKFB4chr3:48559419chr3:48608711ENST00000232375-1314250_469450470RegionNote=Fructose-2%2C6-bisphosphatase
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-901181054_122923562945DomainVWFA 2
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-90118234_32923562945DomainFibronectin type-III 1
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-90118330_41623562945DomainFibronectin type-III 2
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-9011838_21123562945DomainVWFA 1
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-90118417_50723562945DomainFibronectin type-III 3
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-90118510_59723562945DomainFibronectin type-III 4
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-90118600_68723562945DomainFibronectin type-III 5
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-90118688_77523562945DomainFibronectin type-III 6
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-90118778_86623562945DomainFibronectin type-III 7
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-90118869_95723562945DomainFibronectin type-III 8
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-90118958_105123562945DomainFibronectin type-III 9
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-891171054_122923242913DomainVWFA 2
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-89117234_32923242913DomainFibronectin type-III 1
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-89117330_41623242913DomainFibronectin type-III 2
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-8911738_21123242913DomainVWFA 1
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-89117417_50723242913DomainFibronectin type-III 3
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-89117510_59723242913DomainFibronectin type-III 4
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-89117600_68723242913DomainFibronectin type-III 5
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-89117688_77523242913DomainFibronectin type-III 6
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-89117778_86623242913DomainFibronectin type-III 7
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-89117869_95723242913DomainFibronectin type-III 8
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-89117958_105123242913DomainFibronectin type-III 9
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-901181170_117223562945MotifCell attachment site
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-901181334_133623562945MotifCell attachment site
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-901182008_201023562945MotifCell attachment site
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-891171170_117223242913MotifCell attachment site
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-891171334_133623242913MotifCell attachment site
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-891172008_201023242913MotifCell attachment site
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-901181254_147723562945RegionNote=Interrupted collagenous region
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-901181254_278423562945RegionNote=Triple-helical region
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000328333-9011817_125323562945RegionNote=Nonhelical region (NC1)
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-891171254_147723242913RegionNote=Interrupted collagenous region
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-891171254_278423242913RegionNote=Triple-helical region
TgeneCOL7A1chr3:48559419chr3:48608711ENST00000454817-8911717_125323242913RegionNote=Nonhelical region (NC1)


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FusionGeneSequence for PFKFB4_COL7A1


check button 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).

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FusionGenePPI for PFKFB4_COL7A1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PFKFB4GSK3B, CSNK2B, GADD45A, NXF1, PFKFB3COL7A1FN1, LAMA5, COL1A1, COL4A1, LAMB3, LAMC2, THBS1, LRRC57, MOV10, NXF1, NFKBIA, SNCA


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PFKFB4_COL7A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PFKFB4_COL7A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL7A1C0079474Hallopeau-Siemens Disease16ORPHANET;UNIPROT
TgeneCOL7A1C0432322Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)15CTD_human;ORPHANET;UNIPROT
TgeneCOL7A1C1851573Transient bullous dermolysis of the newborn2CTD_human;ORPHANET;UNIPROT
TgeneCOL7A1C0009404Colorectal Neoplasms1CTD_human
TgeneCOL7A1C0432321Epidermolysis bullosa, pretibial1CTD_human;HPO;ORPHANET;UNIPROT
TgeneCOL7A1C1275114Epidermolysis Bullosa Pruriginosa1CTD_human;ORPHANET;UNIPROT
TgeneCOL7A1C1458155Mammary Neoplasms1CTD_human
TgeneCOL7A1C1843761TOENAIL DYSTROPHY, ISOLATED1CTD_human;UNIPROT