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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: 40102

FusionGeneSummary for TUBB4B_PGAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: TUBB4B_PGAP2
Fusion gene ID: 40102
HgeneTgene
Gene symbol

TUBB4B

PGAP2

Gene ID

10383

27315

Gene nametubulin beta 4B class IVbpost-GPI attachment to proteins 2
SynonymsBeta2|LCAEOD|TUBB2|TUBB2CCWH43-N|FRAG1|HPMRS3|MRT17|MRT21
Cytomap

9q34.3

11p15.4

Type of geneprotein-codingprotein-coding
Descriptiontubulin beta-4B chainclass IVb beta tubulintubulin beta-2 chaintubulin beta-2C chaintubulin, beta 2Ctubulin, beta, 2post-GPI attachment to proteins factor 2FGF receptor activating protein 1cell wall biogenesis 43 N-terminal homologmental retardation, non-syndromic, autosomal recessive, 21
Modification date2018052320180523
UniProtAcc

P68371

Q9UHJ9

Ensembl transtripts involved in fusion geneENST00000340384, ENST00000396986, 
ENST00000300730, ENST00000396993, 
ENST00000396991, ENST00000532017, 
ENST00000465307, ENST00000493547, 
ENST00000278243, ENST00000463452, 
ENST00000479072, ENST00000496834, 
Fusion gene scores* DoF score4 X 4 X 1=163 X 3 X 3=27
# samples 43
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TUBB4B [Title/Abstract] AND PGAP2 [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
ChiTaRS3.1BQ319576TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
* 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
5CDS-intronENST00000340384ENST00000396986TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-3UTRENST00000340384ENST00000300730TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-intronENST00000340384ENST00000396993TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-intronENST00000340384ENST00000396991TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-intronENST00000340384ENST00000532017TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-intronENST00000340384ENST00000465307TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-intronENST00000340384ENST00000493547TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-3UTRENST00000340384ENST00000278243TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-intronENST00000340384ENST00000463452TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-intronENST00000340384ENST00000479072TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-
5CDS-intronENST00000340384ENST00000496834TUBB4Bchr9

140138159

+PGAP2chr11

3847574

-

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FusionProtFeatures for TUBB4B_PGAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TUBB4B

P68371

PGAP2

Q9UHJ9

Tubulin is the major constituent of microtubules. Itbinds two moles of GTP, one at an exchangeable site on the betachain and one at a non-exchangeable site on the alpha chain. Involved in the lipid remodeling steps of GPI-anchormaturation. Required for stable expression of GPI-anchoredproteins at the cell surface (By similarity). {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

- 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 TUBB4B_PGAP2


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 TUBB4B_PGAP2


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 TUBB4B_PGAP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneTUBB4BP68371DB00518AlbendazoleTubulin beta-4B chainsmall moleculeapproved|vet_approved
HgeneTUBB4BP68371DB00643MebendazoleTubulin beta-4B chainsmall moleculeapproved|vet_approved

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RelatedDiseases for TUBB4B_PGAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePGAP2C3280153MENTAL RETARDATION, AUTOSOMAL RECESSIVE 172UNIPROT