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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: 4538

FusionGeneSummary for BTBD7_UBR7

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD7_UBR7
Fusion gene ID: 4538
HgeneTgene
Gene symbol

BTBD7

UBR7

Gene ID

55727

55148

Gene nameBTB domain containing 7ubiquitin protein ligase E3 component n-recognin 7 (putative)
SynonymsFUP1C14orf130
Cytomap

14q32.12

14q32.12

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 7BTB (POZ) domain containing 7putative E3 ubiquitin-protein ligase UBR7N-recognin-7RING-type E3 ubiquitin transferase UBR7
Modification date2018051920180522
UniProtAcc

Q9P203

Q8N806

Ensembl transtripts involved in fusion geneENST00000334746, ENST00000554565, 
ENST00000393170, ENST00000298896, 
ENST00000555525, 		ENST00000416753, 
ENST00000013070, 
Fusion gene scores* DoF score4 X 4 X 3=483 X 3 X 2=18
# samples 53
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BTBD7 [Title/Abstract] AND UBR7 [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
TCGARVBRCATCGA-AC-A23H-01ABTBD7chr14

93730131

-UBR7chr14

93688659

+
* 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-frameENST00000334746ENST00000416753BTBD7chr14

93730131

-UBR7chr14

93688659

+
In-frameENST00000334746ENST00000013070BTBD7chr14

93730131

-UBR7chr14

93688659

+
Frame-shiftENST00000554565ENST00000416753BTBD7chr14

93730131

-UBR7chr14

93688659

+
Frame-shiftENST00000554565ENST00000013070BTBD7chr14

93730131

-UBR7chr14

93688659

+
intron-3CDSENST00000393170ENST00000416753BTBD7chr14

93730131

-UBR7chr14

93688659

+
intron-3CDSENST00000393170ENST00000013070BTBD7chr14

93730131

-UBR7chr14

93688659

+
intron-3CDSENST00000298896ENST00000416753BTBD7chr14

93730131

-UBR7chr14

93688659

+
intron-3CDSENST00000298896ENST00000013070BTBD7chr14

93730131

-UBR7chr14

93688659

+
intron-3CDSENST00000555525ENST00000416753BTBD7chr14

93730131

-UBR7chr14

93688659

+
intron-3CDSENST00000555525ENST00000013070BTBD7chr14

93730131

-UBR7chr14

93688659

+

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FusionProtFeatures for BTBD7_UBR7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BTBD7

Q9P203

UBR7

Q8N806

Acts as a mediator of epithelial dynamics and organbranching by promoting cleft progression. Induced followingaccumulation of fibronectin in forming clefts, leading to localexpression of the cell-scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducingcell-cell adhesion. This stimulates cell separation at the base offorming clefts by local, dynamic intercellular gap formation andpromotes cleft progression (By similarity). {ECO:0000250}. E3 ubiquitin-protein ligase which is a component of theN-end rule pathway. Recognizes and binds to proteins bearingspecific N-terminal residues that are destabilizing according tothe N-end rule, leading to their ubiquitination and subsequentdegradation. {ECO:0000250}.

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
HgeneBTBD7chr14:93730131chr14:93688659ENST00000334746-411142_2114571133DomainBTB 1
HgeneBTBD7chr14:93730131chr14:93688659ENST00000334746-411247_3414571133DomainBTB 2

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBTBD7chr14:93730131chr14:93688659ENST00000298896-14756_825-127411Compositional biasNote=Pro-rich
HgeneBTBD7chr14:93730131chr14:93688659ENST00000298896-14849_856-127411Compositional biasNote=Poly-Ala
HgeneBTBD7chr14:93730131chr14:93688659ENST00000334746-411756_8254571133Compositional biasNote=Pro-rich
HgeneBTBD7chr14:93730131chr14:93688659ENST00000334746-411849_8564571133Compositional biasNote=Poly-Ala
HgeneBTBD7chr14:93730131chr14:93688659ENST00000554565-29756_825106782Compositional biasNote=Pro-rich
HgeneBTBD7chr14:93730131chr14:93688659ENST00000554565-29849_856106782Compositional biasNote=Poly-Ala
HgeneBTBD7chr14:93730131chr14:93688659ENST00000298896-14142_211-127411DomainBTB 1
HgeneBTBD7chr14:93730131chr14:93688659ENST00000298896-14247_341-127411DomainBTB 2
HgeneBTBD7chr14:93730131chr14:93688659ENST00000298896-14413_479-127411DomainNote=BACK
HgeneBTBD7chr14:93730131chr14:93688659ENST00000334746-411413_4794571133DomainNote=BACK
HgeneBTBD7chr14:93730131chr14:93688659ENST00000554565-29142_211106782DomainBTB 1
HgeneBTBD7chr14:93730131chr14:93688659ENST00000554565-29247_341106782DomainBTB 2
HgeneBTBD7chr14:93730131chr14:93688659ENST00000554565-29413_479106782DomainNote=BACK
TgeneUBR7chr14:93730131chr14:93688659ENST00000013070+811132_188374426Zinc fingerNote=PHD-type%3B atypical
TgeneUBR7chr14:93730131chr14:93688659ENST00000013070+81144_116374426Zinc fingerUBR-type


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FusionGeneSequence for BTBD7_UBR7


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 BTBD7_UBR7


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
BTBD7CUL3, XPO1UBR7HIST1H3A, UBQLN4, THOC1, VPS33A, TXNDC9, THOC5, ALDH1B1, FH, FKBP9, HDGF, HEXB, LIMD1, NUBP2, OGFOD1, PDCD10, PLCG1, PRMT6, PYGB, C9orf78, HEXA, TATDN1, UBE2R2, SHFM1, ITGB3BP, RPAIN, SPIN2B, RWDD2B, GOLGA4, PDIA6, HIST1H3E, PDK3, LDHD, ACKR3, MRGBP, SLX1A


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 BTBD7_UBR7


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 BTBD7_UBR7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneUBR7C3714756Intellectual Disability1CTD_human