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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: 5060

FusionGeneSummary for C6orf48_PTMA

check button Fusion gene summary
Fusion gene informationFusion gene name: C6orf48_PTMA
Fusion gene ID: 5060
HgeneTgene
Gene symbol

C6orf48

PTMA

Gene ID

50854

5757

Gene namechromosome 6 open reading frame 48prothymosin alpha
SynonymsD6S57|G8TMSA
Cytomap

6p21.33

2q37.1

Type of geneprotein-codingprotein-coding
Descriptionprotein G8prothymosin alphagene sequence 28prothymosin alpha proteinprothymosin-I+/-
Modification date2018051920180522
UniProtAcc

Q9UBA6

P06454

Ensembl transtripts involved in fusion geneENST00000375640, ENST00000375641, 
ENST00000375638, ENST00000375635, 
ENST00000375639, ENST00000375642, 
ENST00000395789, ENST00000375633, 
ENST00000395788, ENST00000424962, 
ENST00000456268, ENST00000435938, 
ENST00000433752, ENST00000458514, 
ENST00000549426, ENST00000550200, 
ENST00000430690, ENST00000436558, 
ENST00000456690, ENST00000439907, 
ENST00000444974, ENST00000439865, 
ENST00000413638, ENST00000423640, 
ENST00000444192, ENST00000551797, 
ENST00000552514, ENST00000440361, 
ENST00000443974, ENST00000416886, 
ENST00000436205, ENST00000450610, 
ENST00000433697, ENST00000414434, 
ENST00000421605, ENST00000444331, 
ENST00000551957, ENST00000550492, 
ENST00000423916, ENST00000436495, 
ENST00000426843, ENST00000421039, 
ENST00000414536, ENST00000400038, 
ENST00000383384, ENST00000383385, 
ENST00000383383, ENST00000547624, 
ENST00000550685, ENST00000400037, 
ENST00000400035, ENST00000400034, 
ENST00000400039, 
ENST00000466801, 
ENST00000409321, ENST00000409115, 
ENST00000341369, ENST00000409683, 
ENST00000410064, 
Fusion gene scores* DoF score9 X 7 X 3=18917 X 17 X 2=578
# samples 1018
** MAII scorelog2(10/189*10)=-0.918386234446348
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/578*10)=-1.683072586171
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C6orf48 [Title/Abstract] AND PTMA [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
ChiTaRS3.1BG531546C6orf48chr6

3096426

+PTMAchr2

232576612

+
* 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-3UTRENST00000375640ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375640ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375640ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375640ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375640ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375640ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375638ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375638ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375638ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375638ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375638ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375638ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375635ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375635ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375635ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375635ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375635ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375635ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375639ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375639ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375639ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375639ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375639ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375639ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375642ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375642ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375642ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375642ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375642ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375642ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395789ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395789ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395789ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395789ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395789ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395789ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000424962ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000424962ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000424962ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000424962ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000424962ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000424962ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456268ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456268ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456268ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456268ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456268ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456268ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000435938ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000435938ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000435938ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000435938ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000435938ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000435938ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000433752ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000433752ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000433752ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000433752ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000433752ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000433752ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000458514ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000458514ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000458514ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000458514ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000458514ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000458514ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000549426ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000549426ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000549426ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000549426ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000549426ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000549426ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000550200ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000550200ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000550200ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000550200ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000550200ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000550200ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000430690ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000430690ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000430690ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000430690ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000430690ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000430690ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000436558ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000436558ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000436558ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000436558ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000436558ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000436558ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456690ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456690ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456690ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456690ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456690ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000456690ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439907ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439907ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439907ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439907ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439907ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439907ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444974ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444974ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444974ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444974ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444974ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444974ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439865ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439865ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439865ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439865ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439865ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000439865ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444192ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444192ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444192ENST00000409115C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444192ENST00000341369C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444192ENST00000409683C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000444192ENST00000410064C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000551797ENST00000466801C6orf48chr6

3096426

+PTMAchr2

232576612

+
intron-3UTRENST00000551797ENST00000409321C6orf48chr6

3096426

+PTMAchr2

232576612

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intron-3UTRENST00000551797ENST00000409115C6orf48chr6

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Top

FusionProtFeatures for C6orf48_PTMA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C6orf48

Q9UBA6

PTMA

P06454

Prothymosin alpha may mediate immune function byconferring resistance to certain opportunistic infections.

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 C6orf48_PTMA


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 C6orf48_PTMA


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 C6orf48_PTMA


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 C6orf48_PTMA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePTMAC0001430Adenoma1CTD_human
TgenePTMAC0015695Fatty Liver1CTD_human
TgenePTMAC0024121Lung Neoplasms1CTD_human
TgenePTMAC0035412Rhabdomyosarcoma1CTD_human