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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:HLA-DQB2-NDUFS1 (FusionGDB2 ID:36546)

Fusion Gene Summary for HLA-DQB2-NDUFS1

check button Fusion gene summary
Fusion gene informationFusion gene name: HLA-DQB2-NDUFS1
Fusion gene ID: 36546
HgeneTgene
Gene symbol

HLA-DQB2

NDUFS1

Gene ID

3120

4719

Gene namemajor histocompatibility complex, class II, DQ beta 2NADH:ubiquinone oxidoreductase core subunit S1
SynonymsDQB2|HLA-DQB1|HLA-DXBCI-75Kd|CI-75k|MC1DN5|PRO1304
Cytomap

6p21.32

2q33.3

Type of geneprotein-codingprotein-coding
DescriptionHLA class II histocompatibility antigen, DQ beta 2 chainDV19.1 (major histocompatibility complex, class II, DQ beta 2 (HLA-DXB))HLA class II histocompatibility antigen, DX beta chainMHC class II antigen DQB2NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)complex I 75kDa subunitcomplex I, mitochondrial respiratory chain, 75-kD subunitmitochondrial NADH-ubiquinone
Modification date2020031320200313
UniProtAcc

P05538

P28331

Ensembl transtripts involved in fusion geneENST00000411527, ENST00000435145, 
ENST00000437316, ENST00000456529, 
ENST00000455520, ENST00000419685, 
ENST00000549642, ENST00000438757, 
ENST00000415137, ENST00000429783, 
ENST00000547938, ENST00000417780, 
ENST00000430849, ENST00000547371, 
ENST00000433801, ENST00000428972, 
ENST00000432486, ENST00000548910, 
ENST00000442043, ENST00000399658, 
ENST00000323109, ENST00000399661, 
ENST00000549204, ENST00000433114, 
ENST00000419519, ENST00000457432, 
ENST00000549667, ENST00000426733, 
ENST00000442806, ENST00000430668, 
ENST00000551426, 
ENST00000233190, 
ENST00000423725, ENST00000457011, 
ENST00000440274, ENST00000455934, 
ENST00000449699, ENST00000432169, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 7 X 6=294
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/294*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HLA-DQB2 [Title/Abstract] AND NDUFS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHLA-DQB2(32724205)-NDUFS1(207003276), # 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
TgeneNDUFS1

GO:0008637

apoptotic mitochondrial changes

15186778


check buttonFusion gene breakpoints across HLA-DQB2 (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 NDUFS1 (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/ABE842948HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-


Top

Fusion Gene ORF analysis for HLA-DQB2-NDUFS1

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-3CDSENST00000411527ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000411527ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000411527ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000411527ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000411527ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000411527ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000411527ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000435145ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000435145ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000435145ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000435145ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000435145ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000435145ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000435145ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000437316ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000437316ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000437316ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000437316ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000437316ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000437316ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000437316ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000456529ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000456529ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000456529ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000456529ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000456529ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000456529ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000456529ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000455520ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000455520ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000455520ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000455520ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000455520ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000455520ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000455520ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000419685ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000419685ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000419685ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000419685ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000419685ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000419685ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000419685ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000549642ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000549642ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000549642ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000549642ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000549642ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000549642ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000549642ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000438757ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000438757ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000438757ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000438757ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000438757ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000438757ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000438757ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000415137ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000415137ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000415137ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000415137ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000415137ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000415137ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000415137ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000429783ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000429783ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000429783ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000429783ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000429783ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000429783ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000429783ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547938ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547938ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547938ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547938ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547938ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547938ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547938ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000417780ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000417780ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000417780ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000417780ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000417780ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000417780ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000417780ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000430849ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000430849ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000430849ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000430849ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000430849ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000430849ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000430849ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547371ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547371ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547371ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547371ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547371ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547371ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000547371ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000433801ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000433801ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000433801ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000433801ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000433801ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000433801ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000433801ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000428972ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000428972ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000428972ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000428972ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000428972ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000428972ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000428972ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000432486ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000432486ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000432486ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000432486ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000432486ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000432486ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000432486ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000548910ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000548910ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000548910ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000548910ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000548910ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000548910ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000548910ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000442043ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000442043ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000442043ENST00000457011HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000442043ENST00000440274HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000442043ENST00000455934HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000442043ENST00000449699HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000442043ENST00000432169HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000399658ENST00000233190HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000399658ENST00000423725HLA-DQB2chr6

32724205

+NDUFS1chr2

207003276

-
intron-3CDSENST00000399658ENST00000457011HLA-DQB2chr6

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intron-3CDSENST00000549204ENST00000457011HLA-DQB2chr6

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intron-3CDSENST00000549204ENST00000440274HLA-DQB2chr6

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intron-3CDSENST00000549204ENST00000455934HLA-DQB2chr6

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intron-3CDSENST00000433114ENST00000457011HLA-DQB2chr6

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intron-3CDSENST00000433114ENST00000440274HLA-DQB2chr6

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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 HLA-DQB2-NDUFS1


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 HLA-DQB2-NDUFS1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HLA-DQB2

P05538

NDUFS1

P28331

FUNCTION: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. {ECO:0000269|PubMed:22407913}.FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:30879903, PubMed:31557978). Essential for catalysing the entry and efficient transfer of electrons within complex I (PubMed:31557978). Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978). {ECO:0000269|PubMed:30879903, ECO:0000269|PubMed:31557978}.

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 HLA-DQB2-NDUFS1


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 HLA-DQB2-NDUFS1


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 HLA-DQB2-NDUFS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNDUFS1P28331DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for HLA-DQB2-NDUFS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNDUFS1C0023264Leigh Disease12CLINGEN;GENOMICS_ENGLAND
TgeneNDUFS1C1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY12CLINGEN
TgeneNDUFS1C1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency12CLINGEN
TgeneNDUFS1C1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency12CLINGEN
TgeneNDUFS1C1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency12CLINGEN
TgeneNDUFS1C1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency12CLINGEN
TgeneNDUFS1C2931891Necrotizing encephalopathy, infantile subacute, of Leigh12CLINGEN
TgeneNDUFS1C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY5GENOMICS_ENGLAND;ORPHANET
TgeneNDUFS1C1656427Early onset schizophrenia2PSYGENET
TgeneNDUFS1C0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneNDUFS1C0024623Malignant neoplasm of stomach1CTD_human
TgeneNDUFS1C0036341Schizophrenia1PSYGENET
TgeneNDUFS1C0038356Stomach Neoplasms1CTD_human
TgeneNDUFS1C0235874Disease Exacerbation1CTD_human
TgeneNDUFS1C0751651Mitochondrial Diseases1GENOMICS_ENGLAND
TgeneNDUFS1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneNDUFS1C4551472Hypertrophic obstructive cardiomyopathy1CTD_human
TgeneNDUFS1C4748754MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 51GENOMICS_ENGLAND;UNIPROT