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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: 27745

FusionGeneSummary for PLXNB1_COL7A1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLXNB1_COL7A1
Fusion gene ID: 27745
HgeneTgene
Gene symbol

PLXNB1

COL7A1

Gene ID

5364

1294

Gene nameplexin B1collagen type VII alpha 1 chain
SynonymsPLEXIN-B1|PLXN5|SEPEBD1|EBDCT|EBR1|NDNC8
Cytomap

3p21.31

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionplexin-B1plexin 5semaphorin receptor SEPcollagen alpha-1(VII) chainLC collagencollagen VII, alpha-1 polypeptidecollagen, type VII, alpha 1long-chain collagen
Modification date2018052320180523
UniProtAcc

O43157

Q02388

Ensembl transtripts involved in fusion geneENST00000296440, ENST00000358459, 
ENST00000358536, ENST00000448774, 
ENST00000456774, ENST00000465117, 
ENST00000454817, ENST00000328333, 
ENST00000470076, 
Fusion gene scores* DoF score7 X 8 X 5=2804 X 4 X 3=48
# samples 74
** MAII scorelog2(7/280*10)=-2
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: PLXNB1 [Title/Abstract] AND COL7A1 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePLXNB1

GO:0007162

negative regulation of cell adhesion

15218527

HgenePLXNB1

GO:0008360

regulation of cell shape

19843518

HgenePLXNB1

GO:0051493

regulation of cytoskeleton organization

19843518

HgenePLXNB1

GO:0071526

semaphorin-plexin signaling pathway

15218527|19843518


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
TCGALDOVTCGA-25-2397-01APLXNB1chr3

48454606

-COL7A1chr3

48625365

-
* 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
intron-3CDSENST00000296440ENST00000454817PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000296440ENST00000328333PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-intronENST00000296440ENST00000470076PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000358459ENST00000454817PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000358459ENST00000328333PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-intronENST00000358459ENST00000470076PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000358536ENST00000454817PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000358536ENST00000328333PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-intronENST00000358536ENST00000470076PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000448774ENST00000454817PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000448774ENST00000328333PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-intronENST00000448774ENST00000470076PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000456774ENST00000454817PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000456774ENST00000328333PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-intronENST00000456774ENST00000470076PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000465117ENST00000454817PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-3CDSENST00000465117ENST00000328333PLXNB1chr3

48454606

-COL7A1chr3

48625365

-
intron-intronENST00000465117ENST00000470076PLXNB1chr3

48454606

-COL7A1chr3

48625365

-

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FusionProtFeatures for PLXNB1_COL7A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLXNB1

O43157

COL7A1

Q02388

Receptor for SEMA4D. Plays a role in RHOA activation andsubsequent changes of the actin cytoskeleton. Plays a role in axonguidance, invasive growth and cell migration.{ECO:0000269|PubMed:12196628, ECO:0000269|PubMed:12198496,ECO:0000269|PubMed:15210733, ECO:0000269|PubMed:19843518,ECO:0000269|PubMed:20877282, ECO:0000269|PubMed:21912513}. 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PLXNB1_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 PLXNB1_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
PLXNB1ARHGEF11, RND1, RND2, RND3, ARHGEF12, SEMA4D, RHOA, AKT1, GRB2, PLCG1, PLCG2, SOX4, DIAPH1, HNRNPD, SGTB, C21orf59, CENPO, CENPU, SMPX, HBB, HBA2COL7A1FN1, 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 PLXNB1_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 PLXNB1_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