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	Fusion Gene Summary
	Fusion Gene Breakpoints
	Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Geness
	Fusion Genomic Features
	Fusion Gene ORF Annotations
	Fusion Protein Retained/Non-Retained Functional Features
	Fusion Transcript Sequences
	Fusion Protein Sequences
	Personalized Fusion Protein Sequences
	Fusion Gene Expressed Samples
	Related Drugs

Fusion gene:SPAG7_CAMTA2 (FusionGDB2 ID:HG9552TG23125)

Fusion Gene Summary for SPAG7_CAMTA2

Fusion gene summary

Fusion gene information	Fusion gene name: SPAG7_CAMTA2
	Fusion gene ID: hg9552tg23125
		Hgene	Tgene
	Gene symbol	SPAG7	CAMTA2
	Gene ID	9552	23125
	Gene name	sperm associated antigen 7	calmodulin binding transcription activator 2
	Synonyms	ACRP|FSA-1	-
	Cytomap	17p13.2	17p13.2
	Type of gene	protein-coding	protein-coding
	Description	sperm-associated antigen 7	calmodulin-binding transcription activator 2
	Modification date	20240305	20240403
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000206020, ENST00000575142,  ENST00000571023, ENST00000573366,	ENST00000206020, ENST00000571023,  ENST00000573366, ENST00000575142,
Fusion gene scores	* DoF score	* DoF score (Degree of Frequency) = # partners X # break points X # disease types 8 X 7 X 10=560	* DoF score (Degree of Frequency) = # partners X # break points X # disease types 5 X 7 X 9=315
	# samples	14	204
	** MAII score	** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) log2(14/560*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) log2(204/315*10)=2.69514541847158 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: SPAG7 [Title/Abstract] AND CAMTA2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	SPAG7(4871014)-CAMTA2(4886338), # samples:4

Fusion gene breakpoints across SPAG7 (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 CAMTA2 (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 Breakpoints for SPAG7_CAMTA2

RNA-seq based exon junction arranged fusion gene breakpoints from 8 resources (TCGA, CCLE, cBioPortal, GenBank, ChimerDB, ChimerKB, ChildHoodFusions, and GTEx). For the expressed sample information, go to Fusion Gene Sample section.

DNA-seq based exon junction arranged fusion gene breakpoints from dbVar. For the expressed sample information, go to Fusion Gene Sample section.

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Tumorigenic MoA (Mechanism of Action) Scenarios of Fusion Genes for SPAG7_CAMTA2

To generate these tumorigenic scenario annotations, we implemented a deduction-first, retrieval-later computational framework. The pipeline first applies rule-guided reasoning across ten core mechanistic categories (M1–M10) derived from fusion gene biology to infer candidate mechanisms, tumorigenic scenarios, targeting points, and targeting backgrounds. To ensure empirical accountability, a governed Python workflow retrieves literature candidates via NCBI E-utilities and Europe PMC using tiered searches. Using JSON Schema-constrained LLM evidence judges (GPT-5.6 Luna and Terra), retrieved articles are evaluated for specificity and confidence without de novo PMID generation. This produces two distinct versions: a strict version restricted to high- or medium-confidence fusion-specific evidence, and an extended version incorporating broader gene-, pathway-, and contextual evidence.

* We have 10 tumorigenic mechanism categories of fusion genes as shown below.

Constitutively Active Kinases, Catalytic Domain Dysregulation, & Transmembrane Ligand Fusions	Aberrant Chimeric Transcription Factor / Fusion Transcription Factor Activity	Epigenetic Reprogramming / Histone Modifier Dysregulation	Chromatin Remodeling Dysregulation	Condensate-Driven Transcriptional Rewiring / LLP	Promoter / Enhancer Hijacking	Dominant-Negative Antagonism	Cell Cycle / Checkpoint Bypass / RNA Processing Dysregulation	Subcellular Mislocalization / Spatial Dysregulation	Nuclear Body / Sub-organellar Architecture Disruption & Differentiation Blockade

* Strict version: Restricted to high- or medium-confidence fusion-specific evidence.

Fusion Gene Name

Mechanism Category

Mechanism PubMed

Tumorigenic Scenarios

Tumorigenic Scenario PubMed

Targeting Points

Targeting PubMed

Mechanism Background

Mechanism Background PubMed

* Extended version: Includes all strict-level fusion evidence plus broader gene-, pathway-, and low-confidence contextual evidence.

Fusion Gene Name

Mechanism Category

Mechanism PubMed

Tumorigenic Scenarios

Tumorigenic Scenario PubMed

Targeting Points

Targeting PubMed

Mechanism Background

Mechanism Background PubMed

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

Hgene	Tgene
.	.

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
Tgene	CAMTA2	GO:0006357	regulation of transcription by RNA polymerase II	16678093
Tgene	CAMTA2	GO:0014898	cardiac muscle hypertrophy in response to stress	16678093

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Fusion Genomic Features for SPAG7_CAMTA2

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) of In-frame fusion genes. 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)
SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-	3.24e-05	1.00e+00

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) of 5UTR-3CSD fusion genes (N-truncated cases).

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

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) of 5CDS-3UTR fusion genes (C-truncated cases).

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of six genomic regulatory feature tracks across a ±5 kb window centered on the fusion breakpoints. We input the breakpoint sequences into AlphaGenome and obtained predicted genome tracks at single-base-pair resolution for each modality by running a single forward pass over the reference sequence. Specifically, for each breakpoint, AlphaGenome processed and returned predicted track data across diverse modalities, which were then averaged across all tracks within each output type and visualized across the ±5 kb window. The left panel shows the 5'-gene breakpoint ±5 kb area, and the right panel shows the 3'-gene breakpoint area, with tracks grouped by category: chromatin accessibility (DNase-seq, ATAC-seq), active transcription (RNA-seq, CAGE), and chromatin binding (ChIP-Histone, ChIP-TF).

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Fusion Gene ORF Annotations for SPAG7_CAMTA2

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-5UTR	ENST00000206020	ENST00000571831	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
5CDS-5UTR	ENST00000575142	ENST00000571831	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
5UTR-3CDS	ENST00000571023	ENST00000348066	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
5UTR-3CDS	ENST00000571023	ENST00000358183	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
5UTR-3CDS	ENST00000571023	ENST00000361571	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
5UTR-3CDS	ENST00000571023	ENST00000381311	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
5UTR-3CDS	ENST00000571023	ENST00000414043	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
5UTR-3CDS	ENST00000571023	ENST00000572543	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
5UTR-5UTR	ENST00000571023	ENST00000571831	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000206020	ENST00000348066	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000206020	ENST00000358183	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000206020	ENST00000361571	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000206020	ENST00000381311	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000206020	ENST00000414043	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000206020	ENST00000572543	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000575142	ENST00000348066	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000575142	ENST00000358183	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000575142	ENST00000361571	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000575142	ENST00000381311	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000575142	ENST00000414043	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-
In-frame	ENST00000575142	ENST00000572543	SPAG7	chr17	4871014	-	CAMTA2	chr17	4886338	-

ORFfinder Result Based On The Fusion Transcript Sequences of the In-frame Fusion Genes.

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

Seq length (transcript)

Seq length (peptide)

ORFfinder Result Based On The Fusion Transcript Sequences of the 5UTR-3CDS Fusion Genes for N-Truncated Protein Search.

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

Seq length (transcript)

Seq length (peptide)

ORFfinder Result Based On The Fusion Transcript Sequences of the 5CDS-3UTR Fusion Genes for C-Truncated Protein Search.

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

Seq length (transcript)

Seq length (peptide)

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

Tgene

Tchr

Tbp

No-coding score

Coding score

DeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5UTR-3CDS Fusion Genes (Potential N-Truncated Proteins).

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

No-coding score

Coding score

DeepORF Prediction of The Coding Potential Based on The Fusion Transcript Sequence of 5CDS-3UTR Fusion Genes (Potential C-Truncated Proteins).

Henst

Tenst

Hgene

Hchr

Hbp

Tgene

Tchr

Tbp

No-coding score

Coding score

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Fusion Protein Retained/Non-Retained Functional Features for SPAG7_CAMTA2

Protein Level Annotation from FGviewer * 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 (visualization across fusion protein length).

SPAG7_CAMTA2_chr17-4871014_chr17-4886338.png

- In-frame and retained protein feature among the 13 regional features (texts).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

270_283

45.0

1203.0

Compositional bias

Pro residues

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

289_299

45.0

1203.0

Compositional bias

Low complexity

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

313_322

45.0

1203.0

Compositional bias

Low complexity

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

365_374

45.0

1203.0

Compositional bias

Pro residues

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

460_476

45.0

1203.0

Compositional bias

Pro residues

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

826_846

45.0

1203.0

Compositional bias

Low complexity

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

906_917

45.0

1203.0

Compositional bias

Low complexity

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

1049_1078

45.0

1203.0

Domain

IQ 1

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

1102_1131

45.0

1203.0

Domain

IQ 2

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

537_615

45.0

1203.0

Domain

Note=IPT/TIG

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

79_86

45.0

1203.0

Motif

Nuclear localization signal

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

263_322

45.0

1203.0

Region

Disordered

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

361_409

45.0

1203.0

Region

Disordered

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

421_491

45.0

1203.0

Region

Disordered

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

817_874

45.0

1203.0

Region

Disordered

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

906_929

45.0

1203.0

Region

Disordered

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

712_745

45.0

1203.0

Repeat

Note=ANK 1

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

757_787

45.0

1203.0

Repeat

Note=ANK 2

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

791_821

45.0

1203.0

Repeat

Note=ANK 3

- 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

Hgene

SPAG7

chr17:4871014

chr17:4886338

ENST00000206020

O75391

1

7

119_147

28.333333333333332

228.0

Compositional bias

Basic and acidic residues

Hgene

SPAG7

chr17:4871014

chr17:4886338

ENST00000206020

O75391

1

7

21_46

28.333333333333332

228.0

Compositional bias

Basic and acidic residues

Hgene

SPAG7

chr17:4871014

chr17:4886338

ENST00000206020

O75391

1

7

46_109

28.333333333333332

228.0

Domain

R3H

Hgene

SPAG7

chr17:4871014

chr17:4886338

ENST00000206020

O75391

1

7

122_139

28.333333333333332

228.0

Motif

Nuclear localization signal

Hgene

SPAG7

chr17:4871014

chr17:4886338

ENST00000206020

O75391

1

7

35_51

28.333333333333332

228.0

Motif

Nuclear localization signal

Hgene

SPAG7

chr17:4871014

chr17:4886338

ENST00000206020

O75391

1

7

118_160

28.333333333333332

228.0

Region

Disordered

Hgene

SPAG7

chr17:4871014

chr17:4886338

ENST00000206020

O75391

1

7

1_46

28.333333333333332

228.0

Region

Disordered

Tgene

CAMTA2

chr17:4871014

chr17:4886338

ENST00000348066

O94983

2

23

30_155

45.0

1203.0

DNA binding

CG-1

- Retained PPIs in in-frame fusion.

Partner

Hgene

Hbp

Tgene

Tbp

ENST

UniProt

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Hgene

Hbp

Tgene

Tbp

ENST

UniProt

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Fusion Transcript Sequence for SPAG7_CAMTA2

In-frame Fusion Transcript Sequences.

N-Truncated Transcript (5UTR-3CDS) Sequences

C-Truncated Transcript (5CDS-3UTR) Sequences

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Fusion Protein Sequence for SPAG7_CAMTA2

In-frame Fusion Protein Sequences.

N-Truncated Protein (5UTR-3CDS) Sequences

C-Truncated Protein (5CDS-3UTR) Sequences

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Personalized Fusion Protein Sequence for SPAG7_CAMTA2

TCGA Kinase/DNA-binding Domain Mutated Fusion Protein Sequences

CCLE Kinase/DNA-binding Domain Mutated Fusion Protein Sequences

TCGA All Mutated Fusion Protein Sequences

CCLE All Mutated Fusion Protein Sequences

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Fusion Gene Exprssed Samples for SPAG7_CAMTA2

RNA-seq based fusion gene expressed samples.

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Related Drugs for SPAG7_CAMTA2

PubMed Abstract Search With ['A-B' AND 'drug'], ['A::B' AND 'drug'] * For more details on the Studied, Reported, Approved Drugs targeting this fusion gene, Go to FusionPub.

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