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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:C6orf48-PTMA (FusionGDB2 ID:11970)

Fusion Gene Summary for C6orf48-PTMA

check button Fusion gene summary
Fusion gene informationFusion gene name: C6orf48-PTMA
Fusion gene ID: 11970
HgeneTgene
Gene symbol

C6orf48

PTMA

Gene ID

50854

5757

Gene namesmall nucleolar RNA host gene 32prothymosin alpha
SynonymsC6orf48|D6S57|G8TMSA
Cytomap

6p21.33

2q37.1

Type of genencRNAprotein-coding
Descriptionprotein G8prothymosin alphagene sequence 28prothymosin alpha proteinprothymosin-I+/-
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000375635, ENST00000375638, 
ENST00000375639, ENST00000375640, 
ENST00000375642, ENST00000395789, 
ENST00000375633, ENST00000375641, 
ENST00000383383, ENST00000383384, 
ENST00000383385, ENST00000395788, 
ENST00000400034, ENST00000400035, 
ENST00000400037, ENST00000400038, 
ENST00000400039, ENST00000413638, 
ENST00000414434, ENST00000414536, 
ENST00000416886, ENST00000421039, 
ENST00000421605, ENST00000423640, 
ENST00000423916, ENST00000424962, 
ENST00000426843, ENST00000430690, 
ENST00000433697, ENST00000433752, 
ENST00000435938, ENST00000436205, 
ENST00000436495, ENST00000436558, 
ENST00000439865, ENST00000439907, 
ENST00000440361, ENST00000443974, 
ENST00000444192, ENST00000444331, 
ENST00000444974, ENST00000450610, 
ENST00000456268, ENST00000456690, 
ENST00000458514, ENST00000547624, 
ENST00000549426, ENST00000550200, 
ENST00000550492, ENST00000550685, 
ENST00000551797, ENST00000551957, 
ENST00000552514, 
ENST00000341369, 
ENST00000409115, ENST00000409321, 
ENST00000409683, ENST00000410064, 
ENST00000466801, 
Fusion gene scores* DoF score12 X 23 X 6=165640 X 26 X 7=7280
# samples 2136
** MAII scorelog2(21/1656*10)=-2.9792414398332
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(36/7280*10)=-4.33786963875638
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]

Most frequent breakpointC6orf48(31802767)-PTMA(232576612), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across C6orf48 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PTMA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABG531546C6orf48chr6

31802767

+PTMAchr2

232576612

+


Top

Fusion Gene ORF analysis for C6orf48-PTMA

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
5UTR-3UTRENST00000375635ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375635ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375635ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375635ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375635ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375635ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375638ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375638ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375638ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375638ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375638ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375638ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375639ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375639ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375639ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375639ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375639ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375639ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375640ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375640ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375640ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375640ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375640ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375640ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375642ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375642ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375642ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375642ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375642ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000375642ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000395789ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000395789ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000395789ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000395789ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000395789ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
5UTR-3UTRENST00000395789ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375633ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000375641ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383383ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383383ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383383ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383383ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383383ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383383ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383384ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383384ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383384ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383384ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383384ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383384ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383385ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383385ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383385ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383385ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383385ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000383385ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000395788ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400034ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400034ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400034ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400034ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400034ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400034ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400035ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400035ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400035ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400035ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400035ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400035ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400037ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400037ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400037ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400037ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400037ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400037ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400038ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400038ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400038ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400038ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400038ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400038ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400039ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400039ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400039ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400039ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400039ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000400039ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000413638ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414434ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414434ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414434ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414434ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414434ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414434ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414536ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414536ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414536ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414536ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414536ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000414536ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000416886ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000416886ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000416886ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000416886ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000416886ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000416886ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421039ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421039ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421039ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421039ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421039ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421039ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421605ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421605ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421605ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421605ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421605ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000421605ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000423640ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000423916ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000423916ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000423916ENST00000409321C6orf48chr6

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intron-3UTRENST00000547624ENST00000341369C6orf48chr6

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intron-3UTRENST00000549426ENST00000341369C6orf48chr6

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intron-3UTRENST00000549426ENST00000410064C6orf48chr6

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intron-3UTRENST00000549426ENST00000466801C6orf48chr6

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intron-3UTRENST00000550200ENST00000341369C6orf48chr6

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intron-3UTRENST00000550200ENST00000466801C6orf48chr6

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intron-3UTRENST00000550492ENST00000341369C6orf48chr6

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intron-3UTRENST00000550492ENST00000409683C6orf48chr6

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intron-3UTRENST00000550492ENST00000410064C6orf48chr6

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intron-3UTRENST00000550492ENST00000466801C6orf48chr6

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intron-3UTRENST00000550685ENST00000341369C6orf48chr6

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intron-3UTRENST00000550685ENST00000409115C6orf48chr6

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intron-3UTRENST00000550685ENST00000409321C6orf48chr6

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intron-3UTRENST00000550685ENST00000409683C6orf48chr6

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intron-3UTRENST00000550685ENST00000410064C6orf48chr6

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intron-3UTRENST00000550685ENST00000466801C6orf48chr6

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intron-3UTRENST00000551797ENST00000341369C6orf48chr6

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intron-3UTRENST00000551797ENST00000409115C6orf48chr6

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intron-3UTRENST00000551797ENST00000409321C6orf48chr6

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intron-3UTRENST00000551797ENST00000409683C6orf48chr6

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intron-3UTRENST00000551797ENST00000410064C6orf48chr6

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intron-3UTRENST00000551797ENST00000466801C6orf48chr6

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intron-3UTRENST00000551957ENST00000341369C6orf48chr6

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intron-3UTRENST00000551957ENST00000409115C6orf48chr6

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intron-3UTRENST00000551957ENST00000409321C6orf48chr6

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intron-3UTRENST00000551957ENST00000409683C6orf48chr6

31802767

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232576612

+
intron-3UTRENST00000551957ENST00000410064C6orf48chr6

31802767

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+
intron-3UTRENST00000551957ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000552514ENST00000341369C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000552514ENST00000409115C6orf48chr6

31802767

+PTMAchr2

232576612

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intron-3UTRENST00000552514ENST00000409321C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000552514ENST00000409683C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000552514ENST00000410064C6orf48chr6

31802767

+PTMAchr2

232576612

+
intron-3UTRENST00000552514ENST00000466801C6orf48chr6

31802767

+PTMAchr2

232576612

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for C6orf48-PTMA


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for C6orf48-PTMA


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:31802767/:232576612)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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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Fusion Gene Sequence for C6orf48-PTMA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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


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Related Drugs for C6orf48-PTMA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for C6orf48-PTMA


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