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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:AGAP1-SOX7

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AGAP1-SOX7
FusionPDB ID: 2784
FusionGDB2.0 ID: 2784
HgeneTgene
Gene symbol

AGAP1

SOX7

Gene ID

116987

83595

Gene nameArfGAP with GTPase domain, ankyrin repeat and PH domain 1SRY-box transcription factor 7
SynonymsAGAP-1|CENTG2|GGAP1|cnt-g2-
Cytomap

2q37.2

8p23.1

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with GTPase, ANK repeat and PH domain-containing protein 1Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1GTP-binding and GTPase-activating protein 1centaurin, gamma 2transcription factor SOX-7SRY (sex determining region Y)-box 7SRY-box 7
Modification date2020031320200313
UniProtAcc

Q9UPQ3

.
Ensembl transtripts involved in fusion geneENST idsENST00000304032, ENST00000336665, 
ENST00000409457, ENST00000409538, 
ENST00000428334, 		ENST00000304501, 
ENST00000553390, ENST00000554914, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score49 X 18 X 17=149945 X 5 X 3=75
# samples 485
** MAII scorelog2(48/14994*10)=-4.96520709119934
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AGAP1 [Title/Abstract] AND SOX7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AGAP1(236403493)-SOX7(10683754), # samples:2
Anticipated loss of major functional domain due to fusion event.AGAP1-SOX7 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.
AGAP1-SOX7 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.
AGAP1-SOX7 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.
AGAP1-SOX7 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSOX7

GO:0001706

endoderm formation

18682240

TgeneSOX7

GO:0008285

negative regulation of cell proliferation

19108950

TgeneSOX7

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

19108950

TgeneSOX7

GO:0045892

negative regulation of transcription, DNA-templated

19108950

TgeneSOX7

GO:0060828

regulation of canonical Wnt signaling pathway

19108950


check buttonFusion gene breakpoints across AGAP1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across SOX7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-24-1544-01AAGAP1chr2

236403493

+SOX7chr8

10683754

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000336665AGAP1chr2236403493+ENST00000554914SOX7chr810683754-21047434211764447
ENST00000336665AGAP1chr2236403493+ENST00000553390SOX7chr810683754-21047434211764447
ENST00000304032AGAP1chr2236403493+ENST00000554914SOX7chr810683754-21047434211764447
ENST00000304032AGAP1chr2236403493+ENST00000553390SOX7chr810683754-21047434211764447
ENST00000409457AGAP1chr2236403493+ENST00000554914SOX7chr810683754-21227614391782447
ENST00000409457AGAP1chr2236403493+ENST00000553390SOX7chr810683754-21227614391782447

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000336665ENST00000554914AGAP1chr2236403493+SOX7chr810683754-0.0113297660.98867023
ENST00000336665ENST00000553390AGAP1chr2236403493+SOX7chr810683754-0.0113297660.98867023
ENST00000304032ENST00000554914AGAP1chr2236403493+SOX7chr810683754-0.0113297660.98867023
ENST00000304032ENST00000553390AGAP1chr2236403493+SOX7chr810683754-0.0113297660.98867023
ENST00000409457ENST00000554914AGAP1chr2236403493+SOX7chr810683754-0.0117545670.9882455
ENST00000409457ENST00000553390AGAP1chr2236403493+SOX7chr810683754-0.0117545670.9882455

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Fusion Amino Acid Sequences


check button 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

>2784_2784_1_AGAP1-SOX7_AGAP1_chr2_236403493_ENST00000304032_SOX7_chr8_10683754_ENST00000553390_length(amino acids)=447AA_BP=107
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDSSDKKEKKSFSLEEKSKISKNRVHYMKFTKGKSWKALTLSQKRPYVDEAERLRLQHMQDYPNYKYRPRRKKQ
AKRLCKRVDPGFLLSSLSRDQNALPEKRSGSRGALGEKEDRGEYSPGTALPSLRGCYHEGPAGGGGGGTPSSVDTYPYGLPTPPEMSPLD
VLEPEQTFFSSPCQEEHGHPRRIPHLPGHPYSPEYAPSPLHCSHPLGSLALGQSPGVSMMSPVPGCPPSPAYYSPATYHPLHSNLQAHLG

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

>2784_2784_2_AGAP1-SOX7_AGAP1_chr2_236403493_ENST00000304032_SOX7_chr8_10683754_ENST00000554914_length(amino acids)=447AA_BP=107
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDSSDKKEKKSFSLEEKSKISKNRVHYMKFTKGKSWKALTLSQKRPYVDEAERLRLQHMQDYPNYKYRPRRKKQ
AKRLCKRVDPGFLLSSLSRDQNALPEKRSGSRGALGEKEDRGEYSPGTALPSLRGCYHEGPAGGGGGGTPSSVDTYPYGLPTPPEMSPLD
VLEPEQTFFSSPCQEEHGHPRRIPHLPGHPYSPEYAPSPLHCSHPLGSLALGQSPGVSMMSPVPGCPPSPAYYSPATYHPLHSNLQAHLG

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

>2784_2784_3_AGAP1-SOX7_AGAP1_chr2_236403493_ENST00000336665_SOX7_chr8_10683754_ENST00000553390_length(amino acids)=447AA_BP=107
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDSSDKKEKKSFSLEEKSKISKNRVHYMKFTKGKSWKALTLSQKRPYVDEAERLRLQHMQDYPNYKYRPRRKKQ
AKRLCKRVDPGFLLSSLSRDQNALPEKRSGSRGALGEKEDRGEYSPGTALPSLRGCYHEGPAGGGGGGTPSSVDTYPYGLPTPPEMSPLD
VLEPEQTFFSSPCQEEHGHPRRIPHLPGHPYSPEYAPSPLHCSHPLGSLALGQSPGVSMMSPVPGCPPSPAYYSPATYHPLHSNLQAHLG

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

>2784_2784_4_AGAP1-SOX7_AGAP1_chr2_236403493_ENST00000336665_SOX7_chr8_10683754_ENST00000554914_length(amino acids)=447AA_BP=107
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDSSDKKEKKSFSLEEKSKISKNRVHYMKFTKGKSWKALTLSQKRPYVDEAERLRLQHMQDYPNYKYRPRRKKQ
AKRLCKRVDPGFLLSSLSRDQNALPEKRSGSRGALGEKEDRGEYSPGTALPSLRGCYHEGPAGGGGGGTPSSVDTYPYGLPTPPEMSPLD
VLEPEQTFFSSPCQEEHGHPRRIPHLPGHPYSPEYAPSPLHCSHPLGSLALGQSPGVSMMSPVPGCPPSPAYYSPATYHPLHSNLQAHLG

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

>2784_2784_5_AGAP1-SOX7_AGAP1_chr2_236403493_ENST00000409457_SOX7_chr8_10683754_ENST00000553390_length(amino acids)=447AA_BP=107
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDSSDKKEKKSFSLEEKSKISKNRVHYMKFTKGKSWKALTLSQKRPYVDEAERLRLQHMQDYPNYKYRPRRKKQ
AKRLCKRVDPGFLLSSLSRDQNALPEKRSGSRGALGEKEDRGEYSPGTALPSLRGCYHEGPAGGGGGGTPSSVDTYPYGLPTPPEMSPLD
VLEPEQTFFSSPCQEEHGHPRRIPHLPGHPYSPEYAPSPLHCSHPLGSLALGQSPGVSMMSPVPGCPPSPAYYSPATYHPLHSNLQAHLG

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

>2784_2784_6_AGAP1-SOX7_AGAP1_chr2_236403493_ENST00000409457_SOX7_chr8_10683754_ENST00000554914_length(amino acids)=447AA_BP=107
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDSSDKKEKKSFSLEEKSKISKNRVHYMKFTKGKSWKALTLSQKRPYVDEAERLRLQHMQDYPNYKYRPRRKKQ
AKRLCKRVDPGFLLSSLSRDQNALPEKRSGSRGALGEKEDRGEYSPGTALPSLRGCYHEGPAGGGGGGTPSSVDTYPYGLPTPPEMSPLD
VLEPEQTFFSSPCQEEHGHPRRIPHLPGHPYSPEYAPSPLHCSHPLGSLALGQSPGVSMMSPVPGCPPSPAYYSPATYHPLHSNLQAHLG

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

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:236403493/chr8:10683754)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AGAP1

Q9UPQ3

.
FUNCTION: GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system. {ECO:0000269|PubMed:12640130}.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.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSOX7chr2:236403493chr8:10683754ENST000003045010245_1130389.0DNA bindingHMG box
TgeneSOX7chr2:236403493chr8:10683754ENST0000030450102268_3880389.0DomainSox C-terminal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAGAP1chr2:236403493chr8:10683754ENST00000304032+118346_58854.333333333333336858.0DomainPH
HgeneAGAP1chr2:236403493chr8:10683754ENST00000304032+118609_72954.333333333333336858.0DomainArf-GAP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000336665+117346_58854.333333333333336805.0DomainPH
HgeneAGAP1chr2:236403493chr8:10683754ENST00000336665+117609_72954.333333333333336805.0DomainArf-GAP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000409457+110346_58854.333333333333336406.0DomainPH
HgeneAGAP1chr2:236403493chr8:10683754ENST00000409457+110609_72954.333333333333336406.0DomainArf-GAP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000304032+118122_12654.333333333333336858.0Nucleotide bindingGTP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000304032+118178_18154.333333333333336858.0Nucleotide bindingGTP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000304032+11878_8554.333333333333336858.0Nucleotide bindingGTP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000336665+117122_12654.333333333333336805.0Nucleotide bindingGTP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000336665+117178_18154.333333333333336805.0Nucleotide bindingGTP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000336665+11778_8554.333333333333336805.0Nucleotide bindingGTP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000409457+110122_12654.333333333333336406.0Nucleotide bindingGTP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000409457+110178_18154.333333333333336406.0Nucleotide bindingGTP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000409457+11078_8554.333333333333336406.0Nucleotide bindingGTP
HgeneAGAP1chr2:236403493chr8:10683754ENST00000304032+11866_27654.333333333333336858.0RegionNote=Small GTPase-like
HgeneAGAP1chr2:236403493chr8:10683754ENST00000336665+11766_27654.333333333333336805.0RegionNote=Small GTPase-like
HgeneAGAP1chr2:236403493chr8:10683754ENST00000409457+11066_27654.333333333333336406.0RegionNote=Small GTPase-like
HgeneAGAP1chr2:236403493chr8:10683754ENST00000304032+118768_79754.333333333333336858.0RepeatNote=ANK 1
HgeneAGAP1chr2:236403493chr8:10683754ENST00000304032+118801_83054.333333333333336858.0RepeatNote=ANK 2
HgeneAGAP1chr2:236403493chr8:10683754ENST00000336665+117768_79754.333333333333336805.0RepeatNote=ANK 1
HgeneAGAP1chr2:236403493chr8:10683754ENST00000336665+117801_83054.333333333333336805.0RepeatNote=ANK 2
HgeneAGAP1chr2:236403493chr8:10683754ENST00000409457+110768_79754.333333333333336406.0RepeatNote=ANK 1
HgeneAGAP1chr2:236403493chr8:10683754ENST00000409457+110801_83054.333333333333336406.0RepeatNote=ANK 2
HgeneAGAP1chr2:236403493chr8:10683754ENST00000304032+118624_64754.333333333333336858.0Zinc fingerC4-type
HgeneAGAP1chr2:236403493chr8:10683754ENST00000336665+117624_64754.333333333333336805.0Zinc fingerC4-type
HgeneAGAP1chr2:236403493chr8:10683754ENST00000409457+110624_64754.333333333333336406.0Zinc fingerC4-type


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AGAP1
SOX7


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to AGAP1-SOX7


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

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Related Diseases to AGAP1-SOX7


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

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource