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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: 5062

FusionGeneSummary for C6orf48_THAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: C6orf48_THAP1
Fusion gene ID: 5062
HgeneTgene
Gene symbol

C6orf48

THAP1

Gene ID

50854

55145

Gene namechromosome 6 open reading frame 48THAP domain containing 1
SynonymsD6S57|G8DYT6
Cytomap

6p21.33

8p11.21

Type of geneprotein-codingprotein-coding
Descriptionprotein G8THAP domain-containing protein 14833431A01RikTHAP domain containing, apoptosis associated protein 1THAP domain protein 1nuclear proapoptotic factor
Modification date2018051920180522
UniProtAcc

Q9UBA6

Q9NVV9

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, 
ENST00000254250, 
ENST00000345117, ENST00000532093, 
Fusion gene scores* DoF score9 X 7 X 3=1891 X 1 X 1=1
# samples 101
** MAII scorelog2(10/189*10)=-0.918386234446348
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: C6orf48 [Title/Abstract] AND THAP1 [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
TgeneTHAP1

GO:0000122

negative regulation of transcription by RNA polymerase II

20976771


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
ChiTaRS3.1BI262348C6orf48chr6

3096368

-THAP1chr8

42698435

-
* 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-5UTRENST00000375640ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375640ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000375640ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375641ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375641ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000375641ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375638ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375638ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000375638ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375635ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375635ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000375635ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375639ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375639ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000375639ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375642ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375642ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000375642ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000395789ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000395789ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000395789ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375633ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000375633ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000375633ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000395788ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000395788ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000395788ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000424962ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000424962ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000424962ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000456268ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000456268ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000456268ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000435938ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000435938ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000435938ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000433752ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000433752ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000433752ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000458514ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000458514ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000458514ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000549426ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000549426ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000549426ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000550200ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000550200ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000550200ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000430690ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000430690ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000430690ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000436558ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000436558ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000436558ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000456690ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000456690ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000456690ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000439907ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000439907ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000439907ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000444974ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000444974ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000444974ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000439865ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000439865ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000439865ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000413638ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000413638ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000413638ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000423640ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000423640ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000423640ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000444192ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000444192ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000444192ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000551797ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000551797ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000551797ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000552514ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000552514ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000552514ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000440361ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000440361ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000440361ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000443974ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000443974ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000443974ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000416886ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000416886ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000416886ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000436205ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000436205ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000436205ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000450610ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000450610ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000450610ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000433697ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000433697ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000433697ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000414434ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000414434ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000414434ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000421605ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000421605ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000421605ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000444331ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000444331ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000444331ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000551957ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000551957ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000551957ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000550492ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000550492ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000550492ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000423916ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000423916ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000423916ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000436495ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000436495ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000436495ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000426843ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000426843ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000426843ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000421039ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000421039ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000421039ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000414536ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000414536ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-intronENST00000414536ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000400038ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000400038ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000400038ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000383384ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000383384ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-intronENST00000383384ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000383385ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000383385ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-intronENST00000383385ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000383383ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000383383ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-intronENST00000383383ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000547624ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000547624ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-intronENST00000547624ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000550685ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000550685ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-intronENST00000550685ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000400037ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-5UTRENST00000400037ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
5UTR-intronENST00000400037ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000400035ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000400035ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000400035ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000400034ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000400034ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000400034ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000400039ENST00000254250C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-5UTRENST00000400039ENST00000345117C6orf48chr6

3096368

-THAP1chr8

42698435

-
intron-intronENST00000400039ENST00000532093C6orf48chr6

3096368

-THAP1chr8

42698435

-

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FusionProtFeatures for C6orf48_THAP1


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

Q9UBA6

THAP1

Q9NVV9

DNA-binding transcription regulator that regulatesendothelial cell proliferation and G1/S cell-cycle progression.Specifically binds the 5'-[AT]NTNN[GT]GGCA[AGT]-3' core DNAsequence and acts by modulating expression of pRB-E2F cell-cycletarget genes, including RRM1. Component of a THAP1/THAP3-HCFC1-OGTcomplex that is required for the regulation of the transcriptionalactivity of RRM1. May also have pro-apoptopic activity bypotentiating both serum-withdrawal and TNF-induced apoptosis.{ECO:0000269|PubMed:12717420, ECO:0000269|PubMed:17003378,ECO:0000269|PubMed:20200153}.

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 C6orf48_THAP1


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 C6orf48_THAP1


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 C6orf48_THAP1


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_THAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTHAP1C1414216Dystonia 6, torsion (disorder)15CTD_human;ORPHANET;UNIPROT
TgeneTHAP1C0013421Dystonia1CTD_human
TgeneTHAP1C0393593Dystonia Disorders1CTD_human