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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: 4516

FusionGeneSummary for BTBD1_HOMER2

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD1_HOMER2
Fusion gene ID: 4516
HgeneTgene
Gene symbol

BTBD1

HOMER2

Gene ID

53339

9455

Gene nameBTB domain containing 1homer scaffold protein 2
SynonymsC15orf1|NS5ATP8ACPD|CPD|DFNA68|HOMER-2|VESL-2
Cytomap

15q25.2

15q25.2

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 1BTB (POZ) domain containing 1HCV NS5A-transactivated protein 8hepatitis C virus NS5A-transactivated protein 8homer protein homolog 2cupidinhomer homolog 2homer homolog 3homer scaffolding protein 2homer, neuronal immediate early gene, 2
Modification date2018052320180523
UniProtAcc

Q9H0C5

Q9NSB8

Ensembl transtripts involved in fusion geneENST00000261721, ENST00000379403, 
ENST00000560015, 
ENST00000450735, 
ENST00000304231, ENST00000399166, 
ENST00000426485, ENST00000500334, 
Fusion gene scores* DoF score5 X 4 X 4=805 X 3 X 3=45
# samples 55
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BTBD1 [Title/Abstract] AND HOMER2 [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
TCGALDBRCATCGA-D8-A1JL-01ABTBD1chr15

83735503

-HOMER2chr15

83561593

-
* 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
Frame-shiftENST00000261721ENST00000450735BTBD1chr15

83735503

-HOMER2chr15

83561593

-
Frame-shiftENST00000261721ENST00000304231BTBD1chr15

83735503

-HOMER2chr15

83561593

-
Frame-shiftENST00000261721ENST00000399166BTBD1chr15

83735503

-HOMER2chr15

83561593

-
Frame-shiftENST00000261721ENST00000426485BTBD1chr15

83735503

-HOMER2chr15

83561593

-
5CDS-intronENST00000261721ENST00000500334BTBD1chr15

83735503

-HOMER2chr15

83561593

-
Frame-shiftENST00000379403ENST00000450735BTBD1chr15

83735503

-HOMER2chr15

83561593

-
Frame-shiftENST00000379403ENST00000304231BTBD1chr15

83735503

-HOMER2chr15

83561593

-
Frame-shiftENST00000379403ENST00000399166BTBD1chr15

83735503

-HOMER2chr15

83561593

-
Frame-shiftENST00000379403ENST00000426485BTBD1chr15

83735503

-HOMER2chr15

83561593

-
5CDS-intronENST00000379403ENST00000500334BTBD1chr15

83735503

-HOMER2chr15

83561593

-
intron-3CDSENST00000560015ENST00000450735BTBD1chr15

83735503

-HOMER2chr15

83561593

-
intron-3CDSENST00000560015ENST00000304231BTBD1chr15

83735503

-HOMER2chr15

83561593

-
intron-3CDSENST00000560015ENST00000399166BTBD1chr15

83735503

-HOMER2chr15

83561593

-
intron-3CDSENST00000560015ENST00000426485BTBD1chr15

83735503

-HOMER2chr15

83561593

-
intron-intronENST00000560015ENST00000500334BTBD1chr15

83735503

-HOMER2chr15

83561593

-

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FusionProtFeatures for BTBD1_HOMER2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BTBD1

Q9H0C5

HOMER2

Q9NSB8

Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination andsubsequent proteasomal degradation of target proteins(PubMed:14528312). Seems to regulate expression levels and/orsubnuclear distribution of TOP1, via an unknown mechanism. Mayplay a role in mesenchymal differentiation where it promotesmyogenic differentiation and suppresses adipogenesis (Bysimilarity). {ECO:0000250|UniProtKB:P58544,ECO:0000250|UniProtKB:Q9H0C5, ECO:0000269|PubMed:14528312}. Postsynaptic density scaffolding protein. Binds andcross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1,RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 withER-associated ITPR1 receptors, it aids the coupling of surfacereceptors to intracellular calcium release. May also couple GRM1to PI3 kinase through its interaction with AGAP2. Isoforms can bedifferently regulated and may play an important role inmaintaining the plasticity at glutamatergic synapses(PubMed:9808459). Required for normal hearing (PubMed:25816005).Negatively regulates T cell activation through negative regulationof IL2 expression by inhibiting calcineurin-NFAT pathwayactivation through interaction with NFATC2 (PubMed:18218901).{ECO:0000269|PubMed:18218901, ECO:0000269|PubMed:25816005,ECO:0000269|PubMed:9808459}.

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 BTBD1_HOMER2


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 BTBD1_HOMER2


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
BTBD1TOP1, COPS6, CUL3, CUL5, COPS5, COPS3, COPS4, LRR1, FMOD, C9orf78, OTUD6B, UBXN1, EPN3, COPS2, PNMA1, OSGIN1, COPS7A, COPS7B, COPS8, BTBD2, FAM98A, UBE2M, TRAPPC10, TRAPPC9, FXR2, IQUB, TRAFD1, SPATA24, GPS1, CPN1, CSNK1E, CIR1, IKZF1, GLMN, PVRL2, CDC42SE1, TRAPPC4, TCP10L, AGMAT, LRRC4C, SYF2, DENR, CCDC74B, BMP7, TRAPPC5, WFDC2, BOD1, LGALS13, MTNR1B, TRIM25HOMER2RYR1, UBXN1, APP, VKORC1, KPNA2, RNF41, LZTS2, CSPP1, HOMER1, IFT57, SMURF1, HOMER3, DBN1


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 BTBD1_HOMER2


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 BTBD1_HOMER2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBTBD1C0520757Delayed Emergence from Anesthesia1CTD_human
TgeneHOMER2C0036341Schizophrenia1PSYGENET
TgeneHOMER2C0236736Cocaine-Related Disorders1CTD_human
TgeneHOMER2C4225240DEAFNESS, AUTOSOMAL DOMINANT 681UNIPROT