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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:HCG20-IMMP2L (FusionGDB2 ID:35626)

Fusion Gene Summary for HCG20-IMMP2L

check button Fusion gene summary
Fusion gene informationFusion gene name: HCG20-IMMP2L
Fusion gene ID: 35626
HgeneTgene
Gene symbol

HCG20

IMMP2L

Gene ID

105375013

83943

Gene nameHLA complex group 20inner mitochondrial membrane peptidase subunit 2
SynonymsNCRNA00149IMMP2L-IT1|IMP2|IMP2-LIKE
Cytomap

6p21.33

7q31.1

Type of genencRNAprotein-coding
DescriptionHLA complex group 20 (non-protein coding)mitochondrial inner membrane protease subunit 2IMP2 inner mitochondrial membrane peptidase-likeIMP2 inner mitochondrial membrane protease-likeinner mitochondrial membrane peptidase 2 like
Modification date2020031320200313
UniProtAcc.

Q96T52

Ensembl transtripts involved in fusion geneENST00000439406, ENST00000431949, 
ENST00000423317, ENST00000437931, 
ENST00000413396, ENST00000417629, 
ENST00000405709, ENST00000331762, 
ENST00000452895, ENST00000415362, 
ENST00000447215, ENST00000437687, 
ENST00000489381, ENST00000450877, 
Fusion gene scores* DoF score1 X 1 X 1=129 X 19 X 14=7714
# samples 132
** MAII scorelog2(1/1*10)=3.32192809488736log2(32/7714*10)=-4.5913353357414
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HCG20 [Title/Abstract] AND IMMP2L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHCG20(30749903)-IMMP2L(110603621), # 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 HCG20 (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 IMMP2L (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
ChimerDB4LUADTCGA-38-4631-01AHCG20chr6

30749903

+IMMP2Lchr7

110603621

-


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Fusion Gene ORF analysis for HCG20-IMMP2L

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-3CDSENST00000439406ENST00000405709HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000439406ENST00000331762HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000439406ENST00000452895HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000439406ENST00000415362HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000439406ENST00000447215HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000439406ENST00000437687HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000439406ENST00000489381HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000439406ENST00000450877HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000431949ENST00000405709HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000431949ENST00000331762HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000431949ENST00000452895HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000431949ENST00000415362HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000431949ENST00000447215HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000431949ENST00000437687HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000431949ENST00000489381HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000431949ENST00000450877HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000423317ENST00000405709HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000423317ENST00000331762HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000423317ENST00000452895HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000423317ENST00000415362HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000423317ENST00000447215HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000423317ENST00000437687HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000423317ENST00000489381HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000423317ENST00000450877HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000437931ENST00000405709HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000437931ENST00000331762HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000437931ENST00000452895HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000437931ENST00000415362HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000437931ENST00000447215HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000437931ENST00000437687HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000437931ENST00000489381HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000437931ENST00000450877HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000413396ENST00000405709HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000413396ENST00000331762HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000413396ENST00000452895HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000413396ENST00000415362HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000413396ENST00000447215HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000413396ENST00000437687HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000413396ENST00000489381HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000413396ENST00000450877HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000417629ENST00000405709HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000417629ENST00000331762HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000417629ENST00000452895HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000417629ENST00000415362HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000417629ENST00000447215HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-3CDSENST00000417629ENST00000437687HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000417629ENST00000489381HCG20chr6

30749903

+IMMP2Lchr7

110603621

-
intron-5UTRENST00000417629ENST00000450877HCG20chr6

30749903

+IMMP2Lchr7

110603621

-

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 HCG20-IMMP2L


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 HCG20-IMMP2L


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
.IMMP2L

Q96T52

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO. {ECO:0000269|PubMed:15814844}.

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 HCG20-IMMP2L


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 HCG20-IMMP2L


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 HCG20-IMMP2L


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 HCG20-IMMP2L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIMMP2LC0004352Autistic Disorder1CTD_human
TgeneIMMP2LC0079744Diffuse Large B-Cell Lymphoma1CTD_human