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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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-CIR1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AGAP1-CIR1
FusionPDB ID: 2763
FusionGDB2.0 ID: 2763
HgeneTgene
Gene symbol

AGAP1

CIR1

Gene ID

116987

9541

Gene nameArfGAP with GTPase domain, ankyrin repeat and PH domain 1corepressor interacting with RBPJ, CIR1
SynonymsAGAP-1|CENTG2|GGAP1|cnt-g2CIR
Cytomap

2q37.2

2q31.1

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 2corepressor interacting with RBPJ 1CBF1 (RBPJ) interacting corepressor 1CBF1-interacting corepressorcorepressor interacting with RBPJ, 1recepin
Modification date2020031320200313
UniProtAcc

Q9UPQ3

Q86X95

Ensembl transtripts involved in fusion geneENST idsENST00000304032, ENST00000336665, 
ENST00000409457, ENST00000409538, 
ENST00000428334, 		ENST00000342016, 
ENST00000362053, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score49 X 18 X 17=1499411 X 6 X 4=264
# samples 489
** MAII scorelog2(48/14994*10)=-4.96520709119934
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/264*10)=-1.55254102302878
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 CIR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AGAP1(236715975)-CIR1(175252507), # samples:4
Anticipated loss of major functional domain due to fusion event.AGAP1-CIR1 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-CIR1 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-CIR1 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-CIR1 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
TgeneCIR1

GO:0000122

negative regulation of transcription by RNA polymerase II

9874765

TgeneCIR1

GO:0045892

negative regulation of transcription, DNA-templated

9874765


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 CIR1 (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
ChimerDB4COADTCGA-AY-5543-01AAGAP1chr2

236715975

-CIR1chr2

175252507

-
ChimerDB4COADTCGA-AY-5543-01AAGAP1chr2

236715975

+CIR1chr2

175252507

-
ChimerDB4COADTCGA-AY-5543AGAP1chr2

236715975

+CIR1chr2

175252507

-


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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)
ENST00000336665AGAP1chr2236715975+ENST00000342016CIR1chr2175252507-338616304212910829
ENST00000336665AGAP1chr2236715975+ENST00000362053CIR1chr2175252507-328416304212166581
ENST00000304032AGAP1chr2236715975+ENST00000342016CIR1chr2175252507-338616304212910829
ENST00000304032AGAP1chr2236715975+ENST00000362053CIR1chr2175252507-328416304212166581
ENST00000409538AGAP1chr2236715975+ENST00000342016CIR1chr2175252507-4097234141836211067
ENST00000409538AGAP1chr2236715975+ENST00000362053CIR1chr2175252507-399523414182877819
ENST00000428334AGAP1chr2236715975+ENST00000342016CIR1chr2175252507-2344588211868615
ENST00000428334AGAP1chr2236715975+ENST00000362053CIR1chr2175252507-2242588211124367
ENST00000409457AGAP1chr2236715975+ENST00000342016CIR1chr2175252507-340416484392928829
ENST00000409457AGAP1chr2236715975+ENST00000362053CIR1chr2175252507-330216484392184581

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
ENST00000336665ENST00000342016AGAP1chr2236715975+CIR1chr2175252507-0.0006418770.9993581
ENST00000336665ENST00000362053AGAP1chr2236715975+CIR1chr2175252507-0.0012344630.9987656
ENST00000304032ENST00000342016AGAP1chr2236715975+CIR1chr2175252507-0.0006418770.9993581
ENST00000304032ENST00000362053AGAP1chr2236715975+CIR1chr2175252507-0.0012344630.9987656
ENST00000409538ENST00000342016AGAP1chr2236715975+CIR1chr2175252507-0.0014929720.99850696
ENST00000409538ENST00000362053AGAP1chr2236715975+CIR1chr2175252507-0.0016071860.99839276
ENST00000428334ENST00000342016AGAP1chr2236715975+CIR1chr2175252507-0.0029849420.9970151
ENST00000428334ENST00000362053AGAP1chr2236715975+CIR1chr2175252507-0.0025581740.99744177
ENST00000409457ENST00000342016AGAP1chr2236715975+CIR1chr2175252507-0.0006571240.99934286
ENST00000409457ENST00000362053AGAP1chr2236715975+CIR1chr2175252507-0.0012723260.9987276

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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

>2763_2763_1_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000304032_CIR1_chr2_175252507_ENST00000342016_length(amino acids)=829AA_BP=403
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGG
PPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLN
VERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPV
RKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFM
YEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGS
GPSMHPSELIAEMRNSGFALKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDRKKKKFQKSRSK
HKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCSGHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKH
ESSREDSKWSHSDSDKKSRTHKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRNDSRSHGTDLYRG

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

>2763_2763_2_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000304032_CIR1_chr2_175252507_ENST00000362053_length(amino acids)=581AA_BP=403
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGG
PPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLN
VERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPV
RKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFM
YEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGS

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

>2763_2763_3_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000336665_CIR1_chr2_175252507_ENST00000342016_length(amino acids)=829AA_BP=403
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGG
PPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLN
VERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPV
RKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFM
YEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGS
GPSMHPSELIAEMRNSGFALKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDRKKKKFQKSRSK
HKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCSGHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKH
ESSREDSKWSHSDSDKKSRTHKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRNDSRSHGTDLYRG

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

>2763_2763_4_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000336665_CIR1_chr2_175252507_ENST00000362053_length(amino acids)=581AA_BP=403
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGG
PPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLN
VERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPV
RKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFM
YEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGS

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

>2763_2763_5_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000409457_CIR1_chr2_175252507_ENST00000342016_length(amino acids)=829AA_BP=403
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGG
PPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLN
VERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPV
RKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFM
YEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGS
GPSMHPSELIAEMRNSGFALKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDRKKKKFQKSRSK
HKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCSGHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKH
ESSREDSKWSHSDSDKKSRTHKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRNDSRSHGTDLYRG

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

>2763_2763_6_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000409457_CIR1_chr2_175252507_ENST00000362053_length(amino acids)=581AA_BP=403
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGG
PPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLN
VERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPV
RKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFM
YEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGS

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

>2763_2763_7_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000409538_CIR1_chr2_175252507_ENST00000342016_length(amino acids)=1067AA_BP=641
MPSPLGPAPSRPAGSLDAAGPQRAGDMYLLDGSGEPASPPADAMPRGTPPRKTVYRISVTMVRKEQLAAPGSGGPDPRPVRRPRPARSPD
APGRLEEEAEEAEGAEEPEGPRPRAWDFRTFRTRSTGQLELGRLRPCARGLEPADLAGSAPAEEEGRGSPASGSPDVEGARAAPLRRSLS
FRHWSGPEAPQGRTLGGGRRHSSSGSLAWAPCDEAAAGTTLEPATATQPASEKRNTLDVGEVLSKNDALSDLERWERSKSKNRTLDNSDL
QRLERARAAAGAGAASEHRLLRFFSGIFARRDGGPGGGPSPRSGASRPRGYFSLRRAPAEAHSSSAESIDGSPRRDAFVNSQEWTLSRSV
PELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGGPPEAQFAMWVDAVIFVFSLEDEISFQTVYHYY
SRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVFQDVAQKIVATRKKQQLSIGPCKSLPNS
PSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADS
IGSGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAP
REKYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFALKRNVLGRNLTAN
DPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDRKKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESN
NKEKKIQRKKRKKNKCSGHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSRTHKHSPEKRGSER

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

>2763_2763_8_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000409538_CIR1_chr2_175252507_ENST00000362053_length(amino acids)=819AA_BP=641
MPSPLGPAPSRPAGSLDAAGPQRAGDMYLLDGSGEPASPPADAMPRGTPPRKTVYRISVTMVRKEQLAAPGSGGPDPRPVRRPRPARSPD
APGRLEEEAEEAEGAEEPEGPRPRAWDFRTFRTRSTGQLELGRLRPCARGLEPADLAGSAPAEEEGRGSPASGSPDVEGARAAPLRRSLS
FRHWSGPEAPQGRTLGGGRRHSSSGSLAWAPCDEAAAGTTLEPATATQPASEKRNTLDVGEVLSKNDALSDLERWERSKSKNRTLDNSDL
QRLERARAAAGAGAASEHRLLRFFSGIFARRDGGPGGGPSPRSGASRPRGYFSLRRAPAEAHSSSAESIDGSPRRDAFVNSQEWTLSRSV
PELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGGPPEAQFAMWVDAVIFVFSLEDEISFQTVYHYY
SRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVFQDVAQKIVATRKKQQLSIGPCKSLPNS
PSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADS
IGSGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAP
REKYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSDAVLQIEGFWAIDAPLGANSGDEKQWVCTETK

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

>2763_2763_9_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000428334_CIR1_chr2_175252507_ENST00000342016_length(amino acids)=615AA_BP=189
MANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPS
HSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIG
SGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPRE
KYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFALKRNVLGRNLTANDP
SQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDRKKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNK
EKKIQRKKRKKNKCSGHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSRTHKHSPEKRGSERKE

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

>2763_2763_10_AGAP1-CIR1_AGAP1_chr2_236715975_ENST00000428334_CIR1_chr2_175252507_ENST00000362053_length(amino acids)=367AA_BP=189
MANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPS
HSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIG
SGRAIPIKQVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMGDERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPRE
KYAKDDMNIRDQPFGIQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSDAVLQIEGFWAIDAPLGANSGDEKQWVCTETKCT

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

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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/chr2:236715975/chr2:175252507)
- 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

CIR1

Q86X95

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: May modulate splice site selection during alternative splicing of pre-mRNAs (By similarity). Regulates transcription and acts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histone deacetylase complex (HDAC). Required for RBPJ-mediated repression of transcription. {ECO:0000250, ECO:0000269|PubMed:19409814, ECO:0000269|PubMed:9874765}.

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
HgeneAGAP1chr2:236715975chr2:175252507ENST00000304032+918122_126350.0858.0Nucleotide bindingGTP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000304032+918178_181350.0858.0Nucleotide bindingGTP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000304032+91878_85350.0858.0Nucleotide bindingGTP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000336665+917122_126350.0805.0Nucleotide bindingGTP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000336665+917178_181350.0805.0Nucleotide bindingGTP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000336665+91778_85350.0805.0Nucleotide bindingGTP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000409457+910122_126350.0406.0Nucleotide bindingGTP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000409457+910178_181350.0406.0Nucleotide bindingGTP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000409457+91078_85350.0406.0Nucleotide bindingGTP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000304032+91866_276350.0858.0RegionNote=Small GTPase-like
HgeneAGAP1chr2:236715975chr2:175252507ENST00000336665+91766_276350.0805.0RegionNote=Small GTPase-like
HgeneAGAP1chr2:236715975chr2:175252507ENST00000409457+91066_276350.0406.0RegionNote=Small GTPase-like
TgeneCIR1chr2:236715975chr2:175252507ENST00000342016010214_36824.0451.0Compositional biasNote=Lys/Ser-rich
TgeneCIR1chr2:236715975chr2:175252507ENST00000342016010369_45024.0451.0Compositional biasNote=Arg/Ser-rich (RS domain)
TgeneCIR1chr2:236715975chr2:175252507ENST00000362053011214_36824.0496.3333333333333Compositional biasNote=Lys/Ser-rich
TgeneCIR1chr2:236715975chr2:175252507ENST00000362053011369_45024.0496.3333333333333Compositional biasNote=Arg/Ser-rich (RS domain)
TgeneCIR1chr2:236715975chr2:175252507ENST00000342016010235_24524.0451.0MotifNuclear localization signal
TgeneCIR1chr2:236715975chr2:175252507ENST00000342016010291_29824.0451.0MotifNuclear localization signal
TgeneCIR1chr2:236715975chr2:175252507ENST00000362053011235_24524.0496.3333333333333MotifNuclear localization signal
TgeneCIR1chr2:236715975chr2:175252507ENST00000362053011291_29824.0496.3333333333333MotifNuclear localization signal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAGAP1chr2:236715975chr2:175252507ENST00000304032+918346_588350.0858.0DomainPH
HgeneAGAP1chr2:236715975chr2:175252507ENST00000304032+918609_729350.0858.0DomainArf-GAP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000336665+917346_588350.0805.0DomainPH
HgeneAGAP1chr2:236715975chr2:175252507ENST00000336665+917609_729350.0805.0DomainArf-GAP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000409457+910346_588350.0406.0DomainPH
HgeneAGAP1chr2:236715975chr2:175252507ENST00000409457+910609_729350.0406.0DomainArf-GAP
HgeneAGAP1chr2:236715975chr2:175252507ENST00000304032+918768_797350.0858.0RepeatNote=ANK 1
HgeneAGAP1chr2:236715975chr2:175252507ENST00000304032+918801_830350.0858.0RepeatNote=ANK 2
HgeneAGAP1chr2:236715975chr2:175252507ENST00000336665+917768_797350.0805.0RepeatNote=ANK 1
HgeneAGAP1chr2:236715975chr2:175252507ENST00000336665+917801_830350.0805.0RepeatNote=ANK 2
HgeneAGAP1chr2:236715975chr2:175252507ENST00000409457+910768_797350.0406.0RepeatNote=ANK 1
HgeneAGAP1chr2:236715975chr2:175252507ENST00000409457+910801_830350.0406.0RepeatNote=ANK 2
HgeneAGAP1chr2:236715975chr2:175252507ENST00000304032+918624_647350.0858.0Zinc fingerC4-type
HgeneAGAP1chr2:236715975chr2:175252507ENST00000336665+917624_647350.0805.0Zinc fingerC4-type
HgeneAGAP1chr2:236715975chr2:175252507ENST00000409457+910624_647350.0406.0Zinc fingerC4-type


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
AGAP1_pLDDT.png
all structure
all structure
CIR1_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
CIR1


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
TgeneCIR1chr2:236715975chr2:175252507ENST000003420160101_12124.0451.0RBPJ
TgeneCIR1chr2:236715975chr2:175252507ENST000003620530111_12124.0496.3333333333333RBPJ


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Related Drugs to AGAP1-CIR1


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-CIR1


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