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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: 26193

FusionGeneSummary for PCDH7_MIB1

check button Fusion gene summary
Fusion gene informationFusion gene name: PCDH7_MIB1
Fusion gene ID: 26193
HgeneTgene
Gene symbol

PCDH7

MIB1

Gene ID

5099

57534

Gene nameprotocadherin 7mindbomb E3 ubiquitin protein ligase 1
SynonymsBH-Pcdh|BHPCDH|PPP1R120DIP-1|DIP1|LVNC7|MIB|ZZANK2|ZZZ6
Cytomap

4p15.1

18q11.2

Type of geneprotein-codingprotein-coding
Descriptionprotocadherin-7BH-protocadherin (brain-heart)brain-heart protocadherinprotein phosphatase 1, regulatory subunit 120E3 ubiquitin-protein ligase MIB1DAPK-interacting protein 1RING-type E3 ubiquitin transferase MIB1ubiquitin ligase mind bombzinc finger ZZ type with ankyrin repeat domain protein 2
Modification date2018052320180523
UniProtAcc

O60245

Q86YT6

Ensembl transtripts involved in fusion geneENST00000543491, ENST00000509925, 
ENST00000361762, 
ENST00000578646, 
ENST00000261537, 
Fusion gene scores* DoF score4 X 5 X 1=203 X 4 X 2=24
# samples 55
** MAII scorelog2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/24*10)=1.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PCDH7 [Title/Abstract] AND MIB1 [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

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
ChiTaRS3.1BX111823PCDH7chr4

30953872

-MIB1chr18

19341819

-
* 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-intronENST00000543491ENST00000578646PCDH7chr4

30953872

-MIB1chr18

19341819

-
intron-intronENST00000543491ENST00000261537PCDH7chr4

30953872

-MIB1chr18

19341819

-
intron-intronENST00000509925ENST00000578646PCDH7chr4

30953872

-MIB1chr18

19341819

-
intron-intronENST00000509925ENST00000261537PCDH7chr4

30953872

-MIB1chr18

19341819

-
intron-intronENST00000361762ENST00000578646PCDH7chr4

30953872

-MIB1chr18

19341819

-
intron-intronENST00000361762ENST00000261537PCDH7chr4

30953872

-MIB1chr18

19341819

-

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FusionProtFeatures for PCDH7_MIB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PCDH7

O60245

MIB1

Q86YT6


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 PCDH7_MIB1


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 PCDH7_MIB1


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


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 PCDH7_MIB1


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 PCDH7_MIB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMIB1C0036572Seizures1CTD_human
TgeneMIB1C3554496LEFT VENTRICULAR NONCOMPACTION 71UNIPROT