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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:CCAR1-SPAG5

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: CCAR1-SPAG5
	FusionPDB ID: 13524
	FusionGDB2.0 ID: 13524
		Hgene	Tgene
	Gene symbol	CCAR1	SPAG5
	Gene ID	55749	10615
	Gene name	cell division cycle and apoptosis regulator 1	sperm associated antigen 5
	Synonyms	-	DEEPEST\|MAP126\|hMAP126
	Cytomap	10q21.3	17q11.2
	Type of gene	protein-coding	protein-coding
	Description	cell division cycle and apoptosis regulator protein 1cell cycle and apoptosis regulatory protein 1death inducer with SAP domain	sperm-associated antigen 5astrinmitotic spindle associated protein p126mitotic spindle coiled-coil related protein
	Modification date	20200313	20200315
	UniProtAcc	Q8IX12	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000265872, ENST00000535016, ENST00000543719, ENST00000483264,	ENST00000321765,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	13 X 11 X 8=1144	5 X 7 X 5=175
	# samples	17	8
	** MAII score	log2(17/1144*10)=-2.75048040064069 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/175*10)=-1.12928301694497 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: CCAR1 [Title/Abstract] AND SPAG5 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	CCAR1(70532856)-SPAG5(26906503), # samples:1
Anticipated loss of major functional domain due to fusion event.	CCAR1-SPAG5 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CCAR1-SPAG5 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CCAR1-SPAG5 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CCAR1-SPAG5 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

* 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	CCAR1	GO:0043065	positive regulation of apoptotic process	12816952

Fusion gene breakpoints across CCAR1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across SPAG5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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
ChimerDB4	STAD	TCGA-BR-6709	CCAR1	chr10	70532856	+	SPAG5	chr17	26906503	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000535016	CCAR1	chr10	70532856	+	ENST00000321765	SPAG5	chr17	26906503	-	3547	2724	119	3421	1100
ENST00000265872	CCAR1	chr10	70532856	+	ENST00000321765	SPAG5	chr17	26906503	-	3592	2769	119	3466	1115
ENST00000543719	CCAR1	chr10	70532856	+	ENST00000321765	SPAG5	chr17	26906503	-	3541	2718	113	3415	1100

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
ENST00000535016	ENST00000321765	CCAR1	chr10	70532856	+	SPAG5	chr17	26906503	-	0.00155965	0.9984403
ENST00000265872	ENST00000321765	CCAR1	chr10	70532856	+	SPAG5	chr17	26906503	-	0.001619445	0.99838054
ENST00000543719	ENST00000321765	CCAR1	chr10	70532856	+	SPAG5	chr17	26906503	-	0.001531038	0.99846894

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>13524_13524_1_CCAR1-SPAG5_CCAR1_chr10_70532856_ENST00000265872_SPAG5_chr17_26906503_ENST00000321765_length(amino acids)=1115AA_BP=883
MAQFGGQKNPPWATQFTATAVSQPAALGVQQPSLLGASPTIYTQQTALAAAGLTTQTPANYQLTQTAALQQQAAAAAAALQQQYSQPQQA
LYSVQQQLQQPQQTLLTQPAVALPTSLSLSTPQPTAQITVSYPTPRSSQQQTQPQKQRVFTGVVTKLHDTFGFVDEDVFFQLSAVKGKTP
QVGDRVLVEATYNPNMPFKWNAQRIQTLPNQNQSQTQPLLKTPPAVLQPIAPQTTFGVQTQPQPQSLLQAQISAASITPLLQTQPQPLLQ
QPQQKAGLLQPPVRIVSQPQPARRLDPPSRFSGRNDRGDQVPNRKDDRSRERERERRRSRERSPQRKRSRERSPRRERERSPRRVRRVVP
RYTVQFSKFSLDCPSCDMMELRRRYQNLYIPSDFFDAQFTWVDAFPLSRPFQLGNYCNFYVMHREVESLEKNMAILDPPDADHLYSAKVM
LMASPSMEDLYHKSCALAEDPQELRDGFQHPARLVKFLVGMKGKDEAMAIGGHWSPSLDGPDPEKDPSVLIKTAIRCCKALTGIDLSVCT
QWYRFAEIRYHRPEETHKGRTVPAHVETVVLFFPDVWHCLPTRSEWETLSRGYKQQLVEKLQGERKEADGEQDEEEKDDGEAKEISTPTH
WSKLDPKTMKVNDLRKELESRALSSKGLKSQLIARLTKQLKVEEQKEEQKELEKSEKEEDEDDDRKSEDDKEEEERKRQEEIERQRRERR
YILPDEPAIIVHPNWAAKSGKFDCSIMSLSVLLDYRLEDNKEHSFEVSLFAELFNEMLQRDFGVRIYKSLLSLPEKEDKKEKDKKSKKDE
RKDKKEERDDETDEPKPKRRKSGDDKDKKEDRDERKKEDKRKDDSKDDDETEEDNNQDEYDPMEAEEAEDEEDETPGMEESLAEMSIMTT
ELQSLCSLLQESKEEAIRTLQRKICELQARLQAQEEQHQEVQKAKEADIEKLNQALCLRYKNEKELQEVIQQQNEKILEQIDKSGELISL
REEVTHLTRSLRRAETETKVLQEALAGQLDSNCQPMATNWIQEKVWLSQEVDKLRVMFLEMKNEKEKLMIKFQSHRNILEENLRRSDKEL

--------------------------------------------------------------

>13524_13524_2_CCAR1-SPAG5_CCAR1_chr10_70532856_ENST00000535016_SPAG5_chr17_26906503_ENST00000321765_length(amino acids)=1100AA_BP=868
MAQFGGQKNPPWATQFTATAVSQPAALGVQQPSLLGASPTIYTQQTALAAAGLTTQTPANYQLTQTAALQQQAAAAAAALQQLQQPQQTL
LTQPAVALPTSLSLSTPQPTAQITVSYPTPRSSQQQTQPQKQRVFTGVVTKLHDTFGFVDEDVFFQLSAVKGKTPQVGDRVLVEATYNPN
MPFKWNAQRIQTLPNQNQSQTQPLLKTPPAVLQPIAPQTTFGVQTQPQPQSLLQAQISAASITPLLQTQPQPLLQQPQQKAGLLQPPVRI
VSQPQPARRLDPPSRFSGRNDRGDQVPNRKDDRSRERERERRRSRERSPQRKRSRERSPRRERERSPRRVRRVVPRYTVQFSKFSLDCPS
CDMMELRRRYQNLYIPSDFFDAQFTWVDAFPLSRPFQLGNYCNFYVMHREVESLEKNMAILDPPDADHLYSAKVMLMASPSMEDLYHKSC
ALAEDPQELRDGFQHPARLVKFLVGMKGKDEAMAIGGHWSPSLDGPDPEKDPSVLIKTAIRCCKALTGIDLSVCTQWYRFAEIRYHRPEE
THKGRTVPAHVETVVLFFPDVWHCLPTRSEWETLSRGYKQQLVEKLQGERKEADGEQDEEEKDDGEAKEISTPTHWSKLDPKTMKVNDLR
KELESRALSSKGLKSQLIARLTKQLKVEEQKEEQKELEKSEKEEDEDDDRKSEDDKEEEERKRQEEIERQRRERRYILPDEPAIIVHPNW
AAKSGKFDCSIMSLSVLLDYRLEDNKEHSFEVSLFAELFNEMLQRDFGVRIYKSLLSLPEKEDKKEKDKKSKKDERKDKKEERDDETDEP
KPKRRKSGDDKDKKEDRDERKKEDKRKDDSKDDDETEEDNNQDEYDPMEAEEAEDEEDETPGMEESLAEMSIMTTELQSLCSLLQESKEE
AIRTLQRKICELQARLQAQEEQHQEVQKAKEADIEKLNQALCLRYKNEKELQEVIQQQNEKILEQIDKSGELISLREEVTHLTRSLRRAE
TETKVLQEALAGQLDSNCQPMATNWIQEKVWLSQEVDKLRVMFLEMKNEKEKLMIKFQSHRNILEENLRRSDKELEKLDDIVQHIYKTLL

--------------------------------------------------------------

>13524_13524_3_CCAR1-SPAG5_CCAR1_chr10_70532856_ENST00000543719_SPAG5_chr17_26906503_ENST00000321765_length(amino acids)=1100AA_BP=868
MAQFGGQKNPPWATQFTATAVSQPAALGVQQPSLLGASPTIYTQQTALAAAGLTTQTPANYQLTQTAALQQQAAAAAAALQQLQQPQQTL
LTQPAVALPTSLSLSTPQPTAQITVSYPTPRSSQQQTQPQKQRVFTGVVTKLHDTFGFVDEDVFFQLSAVKGKTPQVGDRVLVEATYNPN
MPFKWNAQRIQTLPNQNQSQTQPLLKTPPAVLQPIAPQTTFGVQTQPQPQSLLQAQISAASITPLLQTQPQPLLQQPQQKAGLLQPPVRI
VSQPQPARRLDPPSRFSGRNDRGDQVPNRKDDRSRERERERRRSRERSPQRKRSRERSPRRERERSPRRVRRVVPRYTVQFSKFSLDCPS
CDMMELRRRYQNLYIPSDFFDAQFTWVDAFPLSRPFQLGNYCNFYVMHREVESLEKNMAILDPPDADHLYSAKVMLMASPSMEDLYHKSC
ALAEDPQELRDGFQHPARLVKFLVGMKGKDEAMAIGGHWSPSLDGPDPEKDPSVLIKTAIRCCKALTGIDLSVCTQWYRFAEIRYHRPEE
THKGRTVPAHVETVVLFFPDVWHCLPTRSEWETLSRGYKQQLVEKLQGERKEADGEQDEEEKDDGEAKEISTPTHWSKLDPKTMKVNDLR
KELESRALSSKGLKSQLIARLTKQLKVEEQKEEQKELEKSEKEEDEDDDRKSEDDKEEEERKRQEEIERQRRERRYILPDEPAIIVHPNW
AAKSGKFDCSIMSLSVLLDYRLEDNKEHSFEVSLFAELFNEMLQRDFGVRIYKSLLSLPEKEDKKEKDKKSKKDERKDKKEERDDETDEP
KPKRRKSGDDKDKKEDRDERKKEDKRKDDSKDDDETEEDNNQDEYDPMEAEEAEDEEDETPGMEESLAEMSIMTTELQSLCSLLQESKEE
AIRTLQRKICELQARLQAQEEQHQEVQKAKEADIEKLNQALCLRYKNEKELQEVIQQQNEKILEQIDKSGELISLREEVTHLTRSLRRAE
TETKVLQEALAGQLDSNCQPMATNWIQEKVWLSQEVDKLRVMFLEMKNEKEKLMIKFQSHRNILEENLRRSDKELEKLDDIVQHIYKTLL

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:70532856/chr17:26906503)
- 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
CCAR1 Q8IX12	.
FUNCTION: Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (PubMed:12816952). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938). {ECO:0000250\|UniProtKB:Q8CH18, ECO:0000269\|PubMed:12816952, ECO:0000269\|PubMed:23887938, ECO:0000269\|PubMed:24245781}.	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.

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.

- 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

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000265872

594_618

883.3333333333334

1151.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000535016

594_618

868.3333333333334

1136.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000543719

594_618

868.3333333333334

1136.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000265872

293_361

883.3333333333334

1151.0

Compositional bias

Note=Arg-rich

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000265872

73_79

883.3333333333334

1151.0

Compositional bias

Note=Poly-Ala

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000535016

293_361

868.3333333333334

1136.0

Compositional bias

Note=Arg-rich

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000535016

73_79

868.3333333333334

1136.0

Compositional bias

Note=Poly-Ala

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000543719

293_361

868.3333333333334

1136.0

Compositional bias

Note=Arg-rich

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000543719

73_79

868.3333333333334

1136.0

Compositional bias

Note=Poly-Ala

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000265872

636_670

883.3333333333334

1151.0

Domain

SAP

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000535016

636_670

868.3333333333334

1136.0

Domain

SAP

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000543719

636_670

868.3333333333334

1136.0

Domain

SAP

Tgene

SPAG5

chr10:70532856

chr17:26906503

ENST00000321765

979_1174

961.3333333333334

1194.0

Coiled coil

Ontology_term=ECO:0000255

- 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

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000265872

1033_1114

883.3333333333334

1151.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000535016

1033_1114

868.3333333333334

1136.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000543719

1033_1114

868.3333333333334

1136.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000265872

673_889

883.3333333333334

1151.0

Compositional bias

Note=Glu-rich

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000535016

673_889

868.3333333333334

1136.0

Compositional bias

Note=Glu-rich

Hgene

CCAR1

chr10:70532856

chr17:26906503

ENST00000543719

673_889

868.3333333333334

1136.0

Compositional bias

Note=Glu-rich

Tgene

SPAG5

chr10:70532856

chr17:26906503

ENST00000321765

545_608

961.3333333333334

1194.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

SPAG5

chr10:70532856

chr17:26906503

ENST00000321765

759_868

961.3333333333334

1194.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

SPAG5

chr10:70532856

chr17:26906503

ENST00000321765

617_789

961.3333333333334

1194.0

Compositional bias

Note=Gln-rich

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
CCAR1
SPAG5

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	CCAR1	chr10:70532856	chr17:26906503	ENST00000265872	+	19	25	643_1150	883.3333333333334	1151.0	GATA1
Hgene	CCAR1	chr10:70532856	chr17:26906503	ENST00000535016	+	18	24	643_1150	868.3333333333334	1136.0	GATA1
Hgene	CCAR1	chr10:70532856	chr17:26906503	ENST00000543719	+	18	24	643_1150	868.3333333333334	1136.0	GATA1
Tgene	SPAG5	chr10:70532856	chr17:26906503	ENST00000321765		16	24	482_850	961.3333333333334	1194.0	KNSTRN

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Related Drugs to CCAR1-SPAG5

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to CCAR1-SPAG5

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source