	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 17446

FusionGeneSummary for IMMP2L_PHLDB2

Fusion gene summary

Fusion gene information	Fusion gene name: IMMP2L_PHLDB2
	Fusion gene ID: 17446
		Hgene	Tgene
	Gene symbol	IMMP2L	PHLDB2
	Gene ID	83943	90102
	Gene name	inner mitochondrial membrane peptidase subunit 2	pleckstrin homology like domain family B member 2
	Synonyms	IMMP2L-IT1\|IMP2\|IMP2-LIKE	LL5b\|LL5beta
	Cytomap	7q31.1	3q13.2
	Type of gene	protein-coding	protein-coding
	Description	mitochondrial inner membrane protease subunit 2IMP2 inner mitochondrial membrane peptidase-likeIMP2 inner mitochondrial membrane protease-likeinner mitochondrial membrane peptidase 2 like	pleckstrin homology-like domain family B member 2LL5 betaprotein LL5-beta
	Modification date	20180526	20180522
	UniProtAcc	Q96T52	Q86SQ0
	Ensembl transtripts involved in fusion gene	ENST00000405709, ENST00000331762, ENST00000452895, ENST00000415362, ENST00000447215, ENST00000437687, ENST00000489381, ENST00000450877,	ENST00000393923, ENST00000412622, ENST00000431670, ENST00000393925, ENST00000481953, ENST00000495180, ENST00000478922, ENST00000477695, ENST00000470699,
Fusion gene scores	* DoF score	5 X 7 X 5=175	4 X 4 X 2=32
	# samples	7	4
	** MAII score	log2(7/175*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: IMMP2L [Title/Abstract] AND PHLDB2 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BP394692	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000405709	ENST00000393923	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000405709	ENST00000412622	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000405709	ENST00000431670	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000405709	ENST00000393925	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000405709	ENST00000481953	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000405709	ENST00000495180	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000405709	ENST00000478922	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000405709	ENST00000477695	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000405709	ENST00000470699	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000331762	ENST00000393923	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000331762	ENST00000412622	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000331762	ENST00000431670	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000331762	ENST00000393925	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000331762	ENST00000481953	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000331762	ENST00000495180	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000331762	ENST00000478922	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000331762	ENST00000477695	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000331762	ENST00000470699	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000452895	ENST00000393923	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000452895	ENST00000412622	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000452895	ENST00000431670	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000452895	ENST00000393925	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000452895	ENST00000481953	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000452895	ENST00000495180	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000452895	ENST00000478922	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000452895	ENST00000477695	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000452895	ENST00000470699	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000415362	ENST00000393923	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000415362	ENST00000412622	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000415362	ENST00000431670	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000415362	ENST00000393925	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000415362	ENST00000481953	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000415362	ENST00000495180	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000415362	ENST00000478922	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000415362	ENST00000477695	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000415362	ENST00000470699	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000447215	ENST00000393923	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000447215	ENST00000412622	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000447215	ENST00000431670	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000447215	ENST00000393925	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000447215	ENST00000481953	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000447215	ENST00000495180	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000447215	ENST00000478922	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000447215	ENST00000477695	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000447215	ENST00000470699	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000437687	ENST00000393923	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000437687	ENST00000412622	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000437687	ENST00000431670	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000437687	ENST00000393925	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000437687	ENST00000481953	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000437687	ENST00000495180	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000437687	ENST00000478922	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000437687	ENST00000477695	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000437687	ENST00000470699	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000489381	ENST00000393923	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000489381	ENST00000412622	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000489381	ENST00000431670	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000489381	ENST00000393925	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000489381	ENST00000481953	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000489381	ENST00000495180	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000489381	ENST00000478922	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000489381	ENST00000477695	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000489381	ENST00000470699	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000450877	ENST00000393923	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000450877	ENST00000412622	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000450877	ENST00000431670	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000450877	ENST00000393925	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000450877	ENST00000481953	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000450877	ENST00000495180	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000450877	ENST00000478922	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000450877	ENST00000477695	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+
intron-intron	ENST00000450877	ENST00000470699	IMMP2L	chr7	110990320	-	PHLDB2	chr3	111649024	+

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FusionProtFeatures for IMMP2L_PHLDB2

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
IMMP2L Q96T52	PHLDB2 Q86SQ0
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}.	Seems to be involved in the assembly of the postsynapticapparatus. May play a role in acetyl-choline receptor (AChR)aggregation in the postsynaptic membrane (By similarity).{ECO:0000250, ECO:0000269\|PubMed:12376540}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for IMMP2L_PHLDB2

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 IMMP2L_PHLDB2

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for IMMP2L_PHLDB2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for IMMP2L_PHLDB2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	IMMP2L	C0004352	Autistic Disorder	1	CTD_human

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Fusion gene ID: 17446

FusionGeneSummary for IMMP2L_PHLDB2

FusionProtFeatures for IMMP2L_PHLDB2

FusionGeneSequence for IMMP2L_PHLDB2

FusionGenePPI for IMMP2L_PHLDB2

RelatedDrugs for IMMP2L_PHLDB2

RelatedDiseases for IMMP2L_PHLDB2