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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: 17441

FusionGeneSummary for IMMP1L_ELP4

check button Fusion gene summary
Fusion gene informationFusion gene name: IMMP1L_ELP4
Fusion gene ID: 17441
HgeneTgene
Gene symbol

IMMP1L

ELP4

Gene ID

196294

26610

Gene nameinner mitochondrial membrane peptidase subunit 1elongator acetyltransferase complex subunit 4
SynonymsIMMP1|IMP1|IMP1-LIKEAN|AN2|C11orf19|PAX6NEB|PAXNEB|dJ68P15A.1|hELP4
Cytomap

11p13

11p13

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial inner membrane protease subunit 1IMP1 inner mitochondrial membrane peptidase-likeelongator complex protein 4PAX6 neighbor gene proteinelongation protein 4 homolog
Modification date2018052620180523
UniProtAcc

Q96LU5

Q96EB1

Ensembl transtripts involved in fusion geneENST00000526776, ENST00000532287, 
ENST00000534812, ENST00000278200, 
ENST00000533642, ENST00000528161, 
ENST00000350638, ENST00000379163, 
ENST00000395934, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 4 X 5=100
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IMMP1L [Title/Abstract] AND ELP4 [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
TgeneELP4

GO:0006357

regulation of transcription by RNA polymerase II

11818576

TgeneELP4

GO:0043966

histone H3 acetylation

11714725

TgeneELP4

GO:0043967

histone H4 acetylation

11714725


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
ChiTaRS3.1BG433771IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
* 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
5UTR-3CDSENST00000526776ENST00000350638IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000526776ENST00000379163IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000526776ENST00000395934IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000532287ENST00000350638IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000532287ENST00000379163IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000532287ENST00000395934IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000534812ENST00000350638IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000534812ENST00000379163IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000534812ENST00000395934IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000278200ENST00000350638IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000278200ENST00000379163IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000278200ENST00000395934IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000533642ENST00000350638IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000533642ENST00000379163IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000533642ENST00000395934IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000528161ENST00000350638IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000528161ENST00000379163IMMP1Lchr11

31531064

-ELP4chr11

31541601

+
5UTR-3CDSENST00000528161ENST00000395934IMMP1Lchr11

31531064

-ELP4chr11

31541601

+

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FusionProtFeatures for IMMP1L_ELP4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IMMP1L

Q96LU5

ELP4

Q96EB1

Catalyzes the removal of transit peptides required forthe targeting of proteins from the mitochondrial matrix, acrossthe inner membrane, into the inter-membrane space. Known toprocess the nuclear encoded protein DIABLO.{ECO:0000269|PubMed:15814844}. Acts as subunit of the RNA polymerase II elongatorcomplex, which is a histone acetyltransferase component of the RNApolymerase II (Pol II) holoenzyme and is involved intranscriptional elongation. Elongator may play a role in chromatinremodeling and is involved in acetylation of histones H3 andprobably H4. {ECO:0000269|PubMed:11714725,ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:16713582}.

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 IMMP1L_ELP4


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 IMMP1L_ELP4


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
IMMP1LTSPAN5, ZER1, FAM117BELP4IKBKAP, ELP2, ELP3, HINFP, PPP1CC, CBX6, MMS19, SRP68, FAM96B, CIAO1, SHMT2, ELP6, PIPOX, SF3B3, ID2, CDH1, EGFR


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 IMMP1L_ELP4


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 IMMP1L_ELP4


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