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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:FAS-PDE1A (FusionGDB2 ID:HG355TG5136)

Fusion Gene Summary for FAS-PDE1A

Fusion gene summary

Fusion gene information	Fusion gene name: FAS-PDE1A
	Fusion gene ID: hg355tg5136
		Hgene	Tgene
	Gene symbol	FAS	PDE1A
	Gene ID	355	5136
	Gene name	Fas cell surface death receptor	phosphodiesterase 1A
	Synonyms	ALPS1A\|APO-1\|APT1\|CD95\|FAS1\|FASTM\|TNFRSF6	CAM-PDE 1A\|CAM-PDE-1A\|HCAM-1\|HCAM1\|HSPDE1A
	Cytomap	('FAS')('PDE1A') 10q23.31	2q32.1
	Type of gene	protein-coding	protein-coding
	Description	tumor necrosis factor receptor superfamily member 6APO-1 cell surface antigenCD95 antigenFASLG receptorFas (TNF receptor superfamily, member 6)Fas AMATNF receptor superfamily member 6apoptosis antigen 1apoptosis signaling receptor FASapoptosis-me	calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A61 kDa Cam-PDEcalcium/calmodulin-stimulated cyclic nucleotide phosphodiesterasephosphodiesterase 1A, calmodulin-dependent
	Modification date	20200322	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000355740, ENST00000313771, ENST00000352159, ENST00000355279, ENST00000357339,
Fusion gene scores	* DoF score	2 X 2 X 2=8	7 X 6 X 4=168
	# samples	2	8
	** MAII score	log2(2/8*10)=1.32192809488736	log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: FAS [Title/Abstract] AND PDE1A [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	FAS(90775542)-PDE1A(183229188), # samples:13
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)

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	FAS	GO:0006915	apoptotic process	9681877
Hgene	FAS	GO:0043065	positive regulation of apoptotic process	21625644

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	DI185172	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	DI204209	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	DI238830	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	HI579297	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	HI579650	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	HI579732	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	HI579775	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	HI579796	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	HI579809	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	HI579811	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	HI579815	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	HI579816	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
ChiTaRS5.0	N/A	JB390916	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+

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Fusion Gene ORF analysis for FAS-PDE1A

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
5CDS-intron	ENST00000355740	ENST00000331935	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
5CDS-intron	ENST00000355740	ENST00000346717	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
5CDS-intron	ENST00000355740	ENST00000351439	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
5CDS-intron	ENST00000355740	ENST00000358139	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
5CDS-intron	ENST00000355740	ENST00000409365	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
5CDS-intron	ENST00000355740	ENST00000410103	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
5CDS-intron	ENST00000355740	ENST00000435564	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
5CDS-intron	ENST00000355740	ENST00000456212	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
5CDS-intron	ENST00000355740	ENST00000482538	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
5CDS-intron	ENST00000355740	ENST00000536095	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000331935	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000346717	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000351439	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000358139	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000409365	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000410103	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000435564	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000456212	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000482538	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000313771	ENST00000536095	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000331935	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000346717	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000351439	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000358139	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000409365	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000410103	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000435564	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000456212	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000482538	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000352159	ENST00000536095	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000331935	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000346717	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000351439	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000358139	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000409365	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000410103	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000435564	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000456212	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000482538	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000355279	ENST00000536095	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000331935	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000346717	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000351439	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000358139	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000409365	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000410103	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000435564	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000456212	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000482538	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+
intron-intron	ENST00000357339	ENST00000536095	FAS	chr10	90775542	+	PDE1A	chr2	183229188	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for FAS-PDE1A

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

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Fusion Protein Features for FAS-PDE1A

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:90775542/:183229188)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
.	.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for FAS-PDE1A

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 FAS-PDE1A

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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Related Drugs for FAS-PDE1A

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for FAS-PDE1A

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	FAS	C1328840	Autoimmune Lymphoproliferative Syndrome	18	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	FAS	C0004364	Autoimmune Diseases	3	CTD_human
Hgene	FAS	C0033141	Cardiomyopathies, Primary	3	CTD_human
Hgene	FAS	C0036529	Myocardial Diseases, Secondary	3	CTD_human
Hgene	FAS	C0878544	Cardiomyopathies	3	CTD_human
Hgene	FAS	C1846545	Autoimmune Lymphoproliferative Syndrome Type 2B	2	CTD_human
Hgene	FAS	C2717884	Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant	2	CTD_human
Hgene	FAS	C0002152	Alloxan Diabetes	1	CTD_human
Hgene	FAS	C0002897	Anemia, Splenic	1	CTD_human
Hgene	FAS	C0004943	Behcet Syndrome	1	ORPHANET
Hgene	FAS	C0005684	Malignant neoplasm of urinary bladder	1	CTD_human
Hgene	FAS	C0005695	Bladder Neoplasm	1	CTD_human
Hgene	FAS	C0007193	Cardiomyopathy, Dilated	1	CTD_human
Hgene	FAS	C0011853	Diabetes Mellitus, Experimental	1	CTD_human
Hgene	FAS	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human
Hgene	FAS	C0017658	Glomerulonephritis	1	CTD_human
Hgene	FAS	C0018939	Hematological Disease	1	CTD_human
Hgene	FAS	C0019207	Hepatoma, Morris	1	CTD_human
Hgene	FAS	C0019208	Hepatoma, Novikoff	1	CTD_human
Hgene	FAS	C0020532	Hypersplenism	1	CTD_human
Hgene	FAS	C0023467	Leukemia, Myelocytic, Acute	1	CTD_human
Hgene	FAS	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Hgene	FAS	C0023904	Liver Neoplasms, Experimental	1	CTD_human
Hgene	FAS	C0024121	Lung Neoplasms	1	CTD_human
Hgene	FAS	C0024535	Malaria, Falciparum	1	CTD_human
Hgene	FAS	C0026896	Myasthenia Gravis	1	CTD_human
Hgene	FAS	C0026998	Acute Myeloid Leukemia, M1	1	CTD_human
Hgene	FAS	C0027540	Necrosis	1	CTD_human
Hgene	FAS	C0027697	Nephritis	1	CTD_human
Hgene	FAS	C0032963	Pregnancy Complications, Cardiovascular	1	CTD_human
Hgene	FAS	C0033687	Proteinuria	1	CTD_human
Hgene	FAS	C0036341	Schizophrenia	1	PSYGENET
Hgene	FAS	C0038002	Splenomegaly	1	CTD_human
Hgene	FAS	C0038433	Streptozotocin Diabetes	1	CTD_human
Hgene	FAS	C0039338	Taste Disorders	1	CTD_human
Hgene	FAS	C0042170	Uveomeningoencephalitic Syndrome	1	ORPHANET
Hgene	FAS	C0079744	Diffuse Large B-Cell Lymphoma	1	CTD_human
Hgene	FAS	C0079773	Lymphoma, T-Cell, Cutaneous	1	CTD_human
Hgene	FAS	C0086404	Experimental Hepatoma	1	CTD_human
Hgene	FAS	C0162557	Liver Failure, Acute	1	CTD_human
Hgene	FAS	C0234297	Taste Disorder, Primary	1	CTD_human
Hgene	FAS	C0234298	Taste Disorder, Primary, Sweet	1	CTD_human
Hgene	FAS	C0234299	Taste Disorder, Primary, Salt	1	CTD_human
Hgene	FAS	C0234300	Taste Disorder, Primary, Bitter	1	CTD_human
Hgene	FAS	C0234302	Taste Disorder, Anterior Tongue	1	CTD_human
Hgene	FAS	C0234303	Taste Disorder, Secondary	1	CTD_human
Hgene	FAS	C0234304	Taste Disorder, Secondary, Sweet	1	CTD_human
Hgene	FAS	C0234305	Taste Disorder, Secondary, Salt	1	CTD_human
Hgene	FAS	C0234306	Taste Disorder, Secondary, Bitter	1	CTD_human
Hgene	FAS	C0234319	Taste Disorder, Posterior Tongue	1	CTD_human
Hgene	FAS	C0240327	Taste, Metallic	1	CTD_human
Hgene	FAS	C0242379	Malignant neoplasm of lung	1	CTD_human
Hgene	FAS	C0242488	Acute Lung Injury	1	CTD_human
Hgene	FAS	C0242698	Ventricular Dysfunction, Left	1	CTD_human
Hgene	FAS	C0376407	Granulomatous Slack Skin	1	CTD_human
Hgene	FAS	C0400966	Non-alcoholic Fatty Liver Disease	1	CTD_human
Hgene	FAS	C0751339	Myasthenia Gravis, Generalized	1	CTD_human
Hgene	FAS	C0751340	Myasthenia Gravis, Ocular	1	CTD_human
Hgene	FAS	C1449563	Cardiomyopathy, Familial Idiopathic	1	CTD_human
Hgene	FAS	C1704377	Bright Disease	1	CTD_human
Hgene	FAS	C1879321	Acute Myeloid Leukemia (AML-M2)	1	CTD_human
Hgene	FAS	C3241937	Nonalcoholic Steatohepatitis	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:FAS-PDE1A (FusionGDB2 ID:HG355TG5136)

Fusion Gene Summary for FAS-PDE1A

Fusion Gene ORF analysis for FAS-PDE1A

Fusion Genomic Features for FAS-PDE1A

Fusion Protein Features for FAS-PDE1A

Fusion Gene Sequence for FAS-PDE1A

Fusion Gene PPI Analysis for FAS-PDE1A

Related Drugs for FAS-PDE1A

Related Diseases for FAS-PDE1A

Fusion Gene Studies
in Kim Lab