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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:ASAP1-FGF12

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ASAP1-FGF12
FusionPDB ID: 6956
FusionGDB2.0 ID: 6956
HgeneTgene
Gene symbol

ASAP1

FGF12

Gene ID

50807

2257

Gene nameArfGAP with SH3 domain, ankyrin repeat and PH domain 1fibroblast growth factor 12
SynonymsAMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14PEIEE47|FGF12B|FHF1
Cytomap

8q24.21-q24.22

3q28-q29

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating proteinADP-ribosylfibroblast growth factor 12fibroblast growth factor 12Bfibroblast growth factor FGF-12bfibroblast growth factor homologous factor 1myocyte-activating factor
Modification date2020032720200315
UniProtAcc

Q9ULH1

P61328

Ensembl transtripts involved in fusion geneENST idsENST00000357668, ENST00000518721, 
ENST00000520625, 		ENST00000430714, 
ENST00000466144, ENST00000264730, 
ENST00000445105, ENST00000450716, 
ENST00000454309, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score25 X 17 X 13=552512 X 7 X 9=756
# samples 2814
** MAII scorelog2(28/5525*10)=-4.30247573222119
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/756*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ASAP1 [Title/Abstract] AND FGF12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ASAP1(131370263)-FGF12(192078327), # samples:2
ASAP1(131370262)-FGF12(192078327), # samples:2
Anticipated loss of major functional domain due to fusion event.ASAP1-FGF12 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.
ASAP1-FGF12 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.
ASAP1-FGF12 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.
ASAP1-FGF12 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.
ASAP1-FGF12 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted 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

check buttonFusion gene breakpoints across ASAP1 (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 FGF12 (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
ChimerDB4ESCATCGA-V5-A7RB-01AASAP1chr8

131370263

-FGF12chr3

192078327

-
ChimerDB4ESCATCGA-V5-A7RBASAP1chr8

131370262

-FGF12chr3

192078327

-
ChimerDB4ESCATCGA-V5-A7RBASAP1chr8

131370263

-FGF12chr3

192078327

-


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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)
ENST00000518721ASAP1chr8131370263-ENST00000445105FGF12chr3192078327-5561414221946241
ENST00000518721ASAP1chr8131370263-ENST00000264730FGF12chr3192078327-3061414221946241
ENST00000518721ASAP1chr8131370263-ENST00000454309FGF12chr3192078327-2447414221946241
ENST00000518721ASAP1chr8131370263-ENST00000450716FGF12chr3192078327-978414221946241
ENST00000518721ASAP1chr8131370262-ENST00000445105FGF12chr3192078327-5561414221946241
ENST00000518721ASAP1chr8131370262-ENST00000264730FGF12chr3192078327-3061414221946241
ENST00000518721ASAP1chr8131370262-ENST00000454309FGF12chr3192078327-2447414221946241
ENST00000518721ASAP1chr8131370262-ENST00000450716FGF12chr3192078327-978414221946241

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
ENST00000518721ENST00000445105ASAP1chr8131370263-FGF12chr3192078327-0.0006005360.9993994
ENST00000518721ENST00000264730ASAP1chr8131370263-FGF12chr3192078327-0.0005737020.99942636
ENST00000518721ENST00000454309ASAP1chr8131370263-FGF12chr3192078327-0.0007879320.999212
ENST00000518721ENST00000450716ASAP1chr8131370263-FGF12chr3192078327-0.0054475640.99455243
ENST00000518721ENST00000445105ASAP1chr8131370262-FGF12chr3192078327-0.0006005360.9993994
ENST00000518721ENST00000264730ASAP1chr8131370262-FGF12chr3192078327-0.0005737020.99942636
ENST00000518721ENST00000454309ASAP1chr8131370262-FGF12chr3192078327-0.0007879320.999212
ENST00000518721ENST00000450716ASAP1chr8131370262-FGF12chr3192078327-0.0054475640.99455243

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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

>6956_6956_1_ASAP1-FGF12_ASAP1_chr8_131370262_ENST00000518721_FGF12_chr3_192078327_ENST00000264730_length(amino acids)=241AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEPQLKGIVTRLFSQQGYFLQMHPDGT
IDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQ

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

>6956_6956_2_ASAP1-FGF12_ASAP1_chr8_131370262_ENST00000518721_FGF12_chr3_192078327_ENST00000445105_length(amino acids)=241AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEPQLKGIVTRLFSQQGYFLQMHPDGT
IDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQ

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

>6956_6956_3_ASAP1-FGF12_ASAP1_chr8_131370262_ENST00000518721_FGF12_chr3_192078327_ENST00000450716_length(amino acids)=241AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEPQLKGIVTRLFSQQGYFLQMHPDGT
IDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQ

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

>6956_6956_4_ASAP1-FGF12_ASAP1_chr8_131370262_ENST00000518721_FGF12_chr3_192078327_ENST00000454309_length(amino acids)=241AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEPQLKGIVTRLFSQQGYFLQMHPDGT
IDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQ

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

>6956_6956_5_ASAP1-FGF12_ASAP1_chr8_131370263_ENST00000518721_FGF12_chr3_192078327_ENST00000264730_length(amino acids)=241AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEPQLKGIVTRLFSQQGYFLQMHPDGT
IDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQ

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

>6956_6956_6_ASAP1-FGF12_ASAP1_chr8_131370263_ENST00000518721_FGF12_chr3_192078327_ENST00000445105_length(amino acids)=241AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEPQLKGIVTRLFSQQGYFLQMHPDGT
IDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQ

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

>6956_6956_7_ASAP1-FGF12_ASAP1_chr8_131370263_ENST00000518721_FGF12_chr3_192078327_ENST00000450716_length(amino acids)=241AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEPQLKGIVTRLFSQQGYFLQMHPDGT
IDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQ

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

>6956_6956_8_ASAP1-FGF12_ASAP1_chr8_131370263_ENST00000518721_FGF12_chr3_192078327_ENST00000454309_length(amino acids)=241AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEPQLKGIVTRLFSQQGYFLQMHPDGT
IDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQ

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

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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/chr8:131370263/chr3:192078327)
- 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
ASAP1

Q9ULH1

FGF12

P61328

FUNCTION: Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a role in ciliogenesis. {ECO:0000250, ECO:0000269|PubMed:20393563}.FUNCTION: Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation. {ECO:0000269|PubMed:27164707}.

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
TgeneFGF12chr8:131370262chr3:192078327ENST000002647300511_384.333333333333333182.0MotifBipartite nuclear localization signal
TgeneFGF12chr8:131370262chr3:192078327ENST000004451051611_384.333333333333333182.0MotifBipartite nuclear localization signal
TgeneFGF12chr8:131370262chr3:192078327ENST000004507161611_384.333333333333333182.0MotifBipartite nuclear localization signal
TgeneFGF12chr8:131370263chr3:192078327ENST000002647300511_384.333333333333333182.0MotifBipartite nuclear localization signal
TgeneFGF12chr8:131370263chr3:192078327ENST000004451051611_384.333333333333333182.0MotifBipartite nuclear localization signal
TgeneFGF12chr8:131370263chr3:192078327ENST000004507161611_384.333333333333333182.0MotifBipartite nuclear localization signal

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASAP1chr8:131370262chr3:192078327ENST00000357668-229783_99362.01130.0Compositional biasNote=Pro-rich
HgeneASAP1chr8:131370262chr3:192078327ENST00000518721-330783_99362.01130.0Compositional biasNote=Pro-rich
HgeneASAP1chr8:131370263chr3:192078327ENST00000357668-229783_99362.01130.0Compositional biasNote=Pro-rich
HgeneASAP1chr8:131370263chr3:192078327ENST00000518721-330783_99362.01130.0Compositional biasNote=Pro-rich
HgeneASAP1chr8:131370262chr3:192078327ENST00000357668-2291067_112962.01130.0DomainSH3
HgeneASAP1chr8:131370262chr3:192078327ENST00000357668-229324_41662.01130.0DomainPH
HgeneASAP1chr8:131370262chr3:192078327ENST00000357668-229439_56062.01130.0DomainArf-GAP
HgeneASAP1chr8:131370262chr3:192078327ENST00000518721-3301067_112962.01130.0DomainSH3
HgeneASAP1chr8:131370262chr3:192078327ENST00000518721-330324_41662.01130.0DomainPH
HgeneASAP1chr8:131370262chr3:192078327ENST00000518721-330439_56062.01130.0DomainArf-GAP
HgeneASAP1chr8:131370263chr3:192078327ENST00000357668-2291067_112962.01130.0DomainSH3
HgeneASAP1chr8:131370263chr3:192078327ENST00000357668-229324_41662.01130.0DomainPH
HgeneASAP1chr8:131370263chr3:192078327ENST00000357668-229439_56062.01130.0DomainArf-GAP
HgeneASAP1chr8:131370263chr3:192078327ENST00000518721-3301067_112962.01130.0DomainSH3
HgeneASAP1chr8:131370263chr3:192078327ENST00000518721-330324_41662.01130.0DomainPH
HgeneASAP1chr8:131370263chr3:192078327ENST00000518721-330439_56062.01130.0DomainArf-GAP
HgeneASAP1chr8:131370262chr3:192078327ENST00000357668-229600_63262.01130.0RepeatNote=ANK 1
HgeneASAP1chr8:131370262chr3:192078327ENST00000357668-229636_66562.01130.0RepeatNote=ANK 2
HgeneASAP1chr8:131370262chr3:192078327ENST00000518721-330600_63262.01130.0RepeatNote=ANK 1
HgeneASAP1chr8:131370262chr3:192078327ENST00000518721-330636_66562.01130.0RepeatNote=ANK 2
HgeneASAP1chr8:131370263chr3:192078327ENST00000357668-229600_63262.01130.0RepeatNote=ANK 1
HgeneASAP1chr8:131370263chr3:192078327ENST00000357668-229636_66562.01130.0RepeatNote=ANK 2
HgeneASAP1chr8:131370263chr3:192078327ENST00000518721-330600_63262.01130.0RepeatNote=ANK 1
HgeneASAP1chr8:131370263chr3:192078327ENST00000518721-330636_66562.01130.0RepeatNote=ANK 2
HgeneASAP1chr8:131370262chr3:192078327ENST00000357668-229454_47762.01130.0Zinc fingerC4-type
HgeneASAP1chr8:131370262chr3:192078327ENST00000518721-330454_47762.01130.0Zinc fingerC4-type
HgeneASAP1chr8:131370263chr3:192078327ENST00000357668-229454_47762.01130.0Zinc fingerC4-type
HgeneASAP1chr8:131370263chr3:192078327ENST00000518721-330454_47762.01130.0Zinc fingerC4-type
TgeneFGF12chr8:131370262chr3:192078327ENST000004543090511_3866.33333333333333244.0MotifBipartite nuclear localization signal
TgeneFGF12chr8:131370263chr3:192078327ENST000004543090511_3866.33333333333333244.0MotifBipartite nuclear localization signal


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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)
PDB file >>>382_ASAP1_131370263_FGF12_192078327_ranked_0.pdbASAP1131370262131370263ENST00000450716FGF12chr3192078327-
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEPQLKGIVTRLFSQQGYFLQMHPDGT
IDGTKDENSDYTLFNLIPVGLRVVAIQGVKASLYVAMNGEGYLYSSDVFTPECKFKESVFENYYVIYSSTLYRQQESGRAWFLGLNKEGQ
241


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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.
ASAP1_pLDDT.png
all structure
all structure
FGF12_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.
all structure


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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
ASAP1
FGF12


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 ASAP1-FGF12


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 ASAP1-FGF12


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