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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: 28555

FusionGeneSummary for PPT2_TUBB4A

check button Fusion gene summary
Fusion gene informationFusion gene name: PPT2_TUBB4A
Fusion gene ID: 28555
HgeneTgene
Gene symbol

PPT2

TUBB4A

Gene ID

9374

10382

Gene namepalmitoyl-protein thioesterase 2tubulin beta 4A class IVa
SynonymsC6orf8|G14|PPT-2DYT4|TUBB4|beta-5
Cytomap

6p21.32

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionlysosomal thioesterase PPT2S-thioesterase G14VE-statin2palmitoyl-protein hydrolase 2tubulin beta-4A chaindystonia 4, torsion (autosomal dominant)tubulin beta-4 chaintubulin, beta 4tubulin, beta, 5
Modification date2018052320180523
UniProtAcc

Q9UMR5

P04350

Ensembl transtripts involved in fusion geneENST00000361568, ENST00000395523, 
ENST00000324816, ENST00000445576, 
ENST00000437001, ENST00000375137, 
ENST00000375143, ENST00000493548, 
ENST00000412651, ENST00000457509, 
ENST00000550796, ENST00000547565, 
ENST00000440533, ENST00000445462, 
ENST00000486923, ENST00000550232, 
ENST00000383152, ENST00000399665, 
ENST00000547646, ENST00000551703, 
ENST00000399662, ENST00000399660, 
ENST00000480985, ENST00000467040, 
ENST00000487203, ENST00000423347, 
ENST00000440507, ENST00000551222, 
ENST00000548089, ENST00000424353, 
ENST00000452304, ENST00000459936, 
ENST00000549741, ENST00000383301, 
ENST00000399860, ENST00000546871, 
ENST00000399859, ENST00000399856, 
ENST00000414356, ENST00000452562, 
ENST00000552922, ENST00000549544, 
ENST00000420778, ENST00000427556, 
ENST00000483049, ENST00000547891, 
ENST00000525601, ENST00000547508, 
ENST00000422988, ENST00000547309, 
ENST00000552076, ENST00000465052, 
ENST00000438385, ENST00000456497, 
ENST00000547558, 
ENST00000264071, 
ENST00000540257, ENST00000601152, 
ENST00000598006, ENST00000596926, 
Fusion gene scores* DoF score4 X 4 X 2=328 X 8 X 1=64
# samples 48
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/64*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPT2 [Title/Abstract] AND TUBB4A [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
ChiTaRS3.1BF933096PPT2chr6

3397973

+TUBB4Achr19

6495065

+
* 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-3UTRENST00000361568ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000361568ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000361568ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000361568ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000361568ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000395523ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000395523ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000395523ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000395523ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000395523ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000324816ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000324816ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000324816ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000324816ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000324816ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000445576ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000445576ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000445576ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000445576ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000445576ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000437001ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000437001ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000437001ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000437001ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000437001ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000375137ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000375137ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000375137ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000375137ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000375137ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000375143ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000375143ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000375143ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000375143ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000375143ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000493548ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000493548ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000493548ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000493548ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000493548ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000412651ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000412651ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000412651ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000412651ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000412651ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000457509ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000457509ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000457509ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000457509ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000457509ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000550796ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000550796ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000550796ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000550796ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000550796ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000547565ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000547565ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000547565ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000547565ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000547565ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000440533ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000440533ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000440533ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000440533ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000440533ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000445462ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000445462ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000445462ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000445462ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000445462ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000486923ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000486923ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000486923ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000486923ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000486923ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000550232ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000550232ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000550232ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000550232ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000550232ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000383152ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000383152ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000383152ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000383152ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000383152ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000399665ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000399665ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000399665ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000399665ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000399665ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000547646ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000547646ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000547646ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000547646ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000547646ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000551703ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000551703ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000551703ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000551703ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000551703ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000399662ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000399662ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000399662ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000399662ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000399662ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000399660ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000399660ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000399660ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000399660ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000399660ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000480985ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000480985ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000480985ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000480985ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000480985ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000467040ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000467040ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000467040ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000467040ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000467040ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000487203ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000487203ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000487203ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000487203ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000487203ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000423347ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000423347ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000423347ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000423347ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000423347ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000440507ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000440507ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000440507ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000440507ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000440507ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000551222ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000551222ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000551222ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000551222ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000551222ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000548089ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000548089ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000548089ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000548089ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000548089ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000424353ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000424353ENST00000540257PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000424353ENST00000601152PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000424353ENST00000598006PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-intronENST00000424353ENST00000596926PPT2chr6

3397973

+TUBB4Achr19

6495065

+
intron-3UTRENST00000452304ENST00000264071PPT2chr6

3397973

+TUBB4Achr19

6495065

+
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Top

FusionProtFeatures for PPT2_TUBB4A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPT2

Q9UMR5

TUBB4A

P04350

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.

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


Top

FusionGeneSequence for PPT2_TUBB4A


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).

Top

FusionGenePPI for PPT2_TUBB4A


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


Top

RelatedDrugs for PPT2_TUBB4A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTUBB4AP04350DB11638ArtenimolTubulin beta-4A chainsmall moleculeapproved|investigational

Top

RelatedDiseases for PPT2_TUBB4A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTUBB4AC1851943DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)1ORPHANET;UNIPROT
TgeneTUBB4AC2676244Leukodystrophy, Hypomyelinating, 61ORPHANET;UNIPROT