	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
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	RelatedDiseases

Fusion gene ID: 6910

FusionGeneSummary for CFLAR_ECE1

Fusion gene summary

Fusion gene information	Fusion gene name: CFLAR_ECE1
	Fusion gene ID: 6910
		Hgene	Tgene
	Gene symbol	CFLAR	ECE1
	Gene ID	8837	1889
	Gene name	CASP8 and FADD like apoptosis regulator	endothelin converting enzyme 1
	Synonyms	CASH\|CASP8AP1\|CLARP\|Casper\|FLAME\|FLAME-1\|FLAME1\|FLIP\|I-FLICE\|MRIT\|c-FLIP\|c-FLIPL\|c-FLIPR\|c-FLIPS	ECE
	Cytomap	2q33.1	1p36.12
	Type of gene	protein-coding	protein-coding
	Description	CASP8 and FADD-like apoptosis regulatorFADD-like antiapoptotic molecule 1MACH-related inducer of toxicitycaspase homologcaspase-eight-related proteincaspase-like apoptosis regulatory proteincaspase-related inducer of apoptosiscellular FLICE-like in	endothelin-converting enzyme 1ECE-1
	Modification date	20180523	20180519
	UniProtAcc	O15519	P42892
	Ensembl transtripts involved in fusion gene	ENST00000309955, ENST00000443227, ENST00000341222, ENST00000340870, ENST00000355558, ENST00000341582, ENST00000342795, ENST00000395148, ENST00000423241, ENST00000490965, ENST00000440180, ENST00000457277, ENST00000494258, ENST00000479953,	ENST00000415912, ENST00000357071, ENST00000374893, ENST00000436918, ENST00000264205, ENST00000528294,
Fusion gene scores	* DoF score	3 X 5 X 4=60	8 X 10 X 6=480
	# samples	5	13
	** MAII score	log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(13/480*10)=-1.88452278258006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CFLAR [Title/Abstract] AND ECE1 [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
Hgene	CFLAR	GO:0060544	regulation of necroptotic process	21737330
Hgene	CFLAR	GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	26582200
Hgene	CFLAR	GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	9208847
Tgene	ECE1	GO:0010814	substance P catabolic process	18039931
Tgene	ECE1	GO:0010815	bradykinin catabolic process	18039931
Tgene	ECE1	GO:0010816	calcitonin catabolic process	18039931
Tgene	ECE1	GO:0016485	protein processing	7805846
Tgene	ECE1	GO:0016486	peptide hormone processing	7864876
Tgene	ECE1	GO:0034959	endothelin maturation	7805846
Tgene	ECE1	GO:0042447	hormone catabolic process	7864876

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			BQ336177	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+

* 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-3CDS	ENST00000309955	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000309955	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000309955	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000309955	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000309955	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000309955	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000443227	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000443227	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000443227	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000443227	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000443227	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000443227	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341222	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341222	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341222	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341222	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341222	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000341222	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000340870	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000340870	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000340870	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000340870	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000340870	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000340870	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000355558	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000355558	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000355558	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000355558	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000355558	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000355558	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341582	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341582	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341582	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341582	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000341582	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000341582	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000342795	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000342795	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000342795	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000342795	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000342795	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000342795	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
3UTR-3CDS	ENST00000395148	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
3UTR-3CDS	ENST00000395148	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
3UTR-3CDS	ENST00000395148	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
3UTR-3CDS	ENST00000395148	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
3UTR-3CDS	ENST00000395148	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
3UTR-intron	ENST00000395148	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000423241	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000423241	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000423241	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000423241	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000423241	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000423241	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000490965	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000490965	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000490965	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000490965	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000490965	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000490965	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000440180	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000440180	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000440180	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000440180	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000440180	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000440180	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000457277	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000457277	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000457277	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000457277	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000457277	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000457277	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000494258	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000494258	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000494258	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000494258	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000494258	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000494258	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000479953	ENST00000415912	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000479953	ENST00000357071	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000479953	ENST00000374893	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000479953	ENST00000436918	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-3CDS	ENST00000479953	ENST00000264205	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+
intron-intron	ENST00000479953	ENST00000528294	CFLAR	chr2	202002880	+	ECE1	chr1	21551817	+

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FusionProtFeatures for CFLAR_ECE1

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

Hgene	Tgene
CFLAR O15519	ECE1 P42892

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 CFLAR_ECE1

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 CFLAR_ECE1

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 CFLAR_ECE1

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 CFLAR_ECE1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CFLAR	C0019829	Hodgkin Disease	1	CTD_human
Hgene	CFLAR	C0023418	leukemia	1	CTD_human
Hgene	CFLAR	C0030297	Pancreatic Neoplasm	1	CTD_human
Hgene	CFLAR	C1955906	Lymphoma, Extranodal NK-T-Cell	1	CTD_human
Hgene	CFLAR	C3463824	MYELODYSPLASTIC SYNDROME	1	CTD_human
Tgene	ECE1	C0018798	Congenital Heart Defects	2	CTD_human
Tgene	ECE1	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human
Tgene	ECE1	C0019569	Hirschsprung Disease	1	CTD_human;HPO;ORPHANET
Tgene	ECE1	C0020538	Hypertensive disease	1	CTD_human
Tgene	ECE1	C0376634	Craniofacial Abnormalities	1	CTD_human
Tgene	ECE1	C1145628	Autonomic nervous system disorders	1	CTD_human;HPO
Tgene	ECE1	C3151237	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	1	UNIPROT

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Fusion gene ID: 6910

FusionGeneSummary for CFLAR_ECE1

FusionProtFeatures for CFLAR_ECE1

FusionGeneSequence for CFLAR_ECE1

FusionGenePPI for CFLAR_ECE1

RelatedDrugs for CFLAR_ECE1

RelatedDiseases for CFLAR_ECE1