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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:AKAP12-ASCC3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AKAP12-ASCC3
FusionPDB ID: 3278
FusionGDB2.0 ID: 3278
HgeneTgene
Gene symbol

AKAP12

ASCC3

Gene ID

9590

10973

Gene nameA-kinase anchoring protein 12activating signal cointegrator 1 complex subunit 3
SynonymsAKAP250|SSeCKSASC1p200|HELIC1|RNAH
Cytomap

6q25.1

6q16.3

Type of geneprotein-codingprotein-coding
DescriptionA-kinase anchor protein 12A kinase (PRKA) anchor protein 12A-kinase anchor protein, 250kDaAKAP 250Src-Suppressed C Kinase Substratekinase scaffold protein gravinmyasthenia gravis autoantigen gravinactivating signal cointegrator 1 complex subunit 3ASC-1 complex subunit P200RNA helicase familyhelicase, ATP binding 1trip4 complex subunit p200
Modification date2020032720200313
UniProtAcc

Q02952

Q8N3C0

Ensembl transtripts involved in fusion geneENST idsENST00000253332, ENST00000402676, 
ENST00000354675, ENST00000359755, 
ENST00000490177, 
ENST00000369143, 
ENST00000522650, ENST00000369162, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 2=6014 X 10 X 11=1540
# samples 718
** MAII scorelog2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(18/1540*10)=-3.09686153925259
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AKAP12 [Title/Abstract] AND ASCC3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AKAP12(151561859)-ASCC3(101037935), # samples:3
Anticipated loss of major functional domain due to fusion event.AKAP12-ASCC3 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.
AKAP12-ASCC3 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.
AKAP12-ASCC3 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.
AKAP12-ASCC3 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.
AKAP12-ASCC3 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
AKAP12-ASCC3 seems lost the major protein functional domain in Tgene 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
TgeneASCC3

GO:0006307

DNA dealkylation involved in DNA repair

22055184

TgeneASCC3

GO:0032508

DNA duplex unwinding

22055184


check buttonFusion gene breakpoints across AKAP12 (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 ASCC3 (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
ChimerDB4SARCTCGA-HB-A3YV-01AAKAP12chr6

151561859

-ASCC3chr6

101037935

-
ChimerDB4SARCTCGA-HB-A3YV-01AAKAP12chr6

151561859

+ASCC3chr6

101037935

-
ChimerDB4SARCTCGA-HB-A3YVAKAP12chr6

151561859

+ASCC3chr6

100988263

-
ChimerDB4SARCTCGA-X9-A971-01AAKAP12chr6

151561859

+ASCC3chr6

100988263

-
ChimerDB4SARCTCGA-X9-A971-01AAKAP12chr6

151561859

+ASCC3chr6

101037935

-


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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)
ENST00000402676AKAP12chr6151561859+ENST00000369162ASCC3chr6100988263-26534022401460406
ENST00000253332AKAP12chr6151561859+ENST00000369162ASCC3chr6100988263-26023511891409406

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
ENST00000402676ENST00000369162AKAP12chr6151561859+ASCC3chr6100988263-0.0011289280.998871
ENST00000253332ENST00000369162AKAP12chr6151561859+ASCC3chr6100988263-0.0009362450.9990638

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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

>3278_3278_1_AKAP12-ASCC3_AKAP12_chr6_151561859_ENST00000253332_ASCC3_chr6_100988263_ENST00000369162_length(amino acids)=406AA_BP=54
MGAGSSTEQRSPEQPPEGSSTPAEPEPSGGGPSAEAAPDTTADPAIAASDPATKDAEEYTDLPVRHNEDHMNSELAKCLPIESNPHSFDS
PHTKAHLLLQAHLSRAMLPCPDYDTDTKTVLDQALRVCQAMLDVAANQGWLVTVLNITNLIQMVIQGRWLKDSSLLTLPNIENHHLHLFK
KWKPIMKGPHARGRTSIESLPELIHACGGKDHVFSSMVESELHAAKTKQAWNFLSHLPVINVGISVKGSWDDLVEGHNELSVSTLTADKR
DDNKWIKLHADQEYVLQVSLQRVHFGFHKGKPESCAVTPRFPKSKDEGWFLILGEVDKRELIALKRVGYIRNHHVASLSFYTPEIPGRYI

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

>3278_3278_2_AKAP12-ASCC3_AKAP12_chr6_151561859_ENST00000402676_ASCC3_chr6_100988263_ENST00000369162_length(amino acids)=406AA_BP=54
MGAGSSTEQRSPEQPPEGSSTPAEPEPSGGGPSAEAAPDTTADPAIAASDPATKDAEEYTDLPVRHNEDHMNSELAKCLPIESNPHSFDS
PHTKAHLLLQAHLSRAMLPCPDYDTDTKTVLDQALRVCQAMLDVAANQGWLVTVLNITNLIQMVIQGRWLKDSSLLTLPNIENHHLHLFK
KWKPIMKGPHARGRTSIESLPELIHACGGKDHVFSSMVESELHAAKTKQAWNFLSHLPVINVGISVKGSWDDLVEGHNELSVSTLTADKR
DDNKWIKLHADQEYVLQVSLQRVHFGFHKGKPESCAVTPRFPKSKDEGWFLILGEVDKRELIALKRVGYIRNHHVASLSFYTPEIPGRYI

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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/chr6:151561859/chr6:101037935)
- 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
AKAP12

Q02952

ASCC3

Q8N3C0

FUNCTION: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC).FUNCTION: 3'-5' DNA helicase involved in repair of alkylated DNA. Promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions (PubMed:22055184). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347). {ECO:0000269|PubMed:12077347, ECO:0000269|PubMed:22055184}.

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
TgeneASCC3chr6:151561859chr6:100988263ENST000003691430418_790112.0Coiled coilOntology_term=ECO:0000255
TgeneASCC3chr6:151561859chr6:100988263ENST0000036914304328_3560112.0Coiled coilOntology_term=ECO:0000255
TgeneASCC3chr6:151561859chr6:100988263ENST0000052265001318_790732.0Coiled coilOntology_term=ECO:0000255
TgeneASCC3chr6:151561859chr6:100988263ENST00000522650013328_3560732.0Coiled coilOntology_term=ECO:0000255
TgeneASCC3chr6:151561859chr6:100988263ENST00000369143041336_15110112.0DomainHelicase ATP-binding 2
TgeneASCC3chr6:151561859chr6:100988263ENST00000369143041544_17390112.0DomainHelicase C-terminal 2
TgeneASCC3chr6:151561859chr6:100988263ENST00000369143041812_21760112.0DomainNote=SEC63 2
TgeneASCC3chr6:151561859chr6:100988263ENST0000036914304486_6690112.0DomainHelicase ATP-binding 1
TgeneASCC3chr6:151561859chr6:100988263ENST0000036914304728_9140112.0DomainHelicase C-terminal 1
TgeneASCC3chr6:151561859chr6:100988263ENST0000036914304978_12870112.0DomainNote=SEC63 1
TgeneASCC3chr6:151561859chr6:100988263ENST000005226500131336_15110732.0DomainHelicase ATP-binding 2
TgeneASCC3chr6:151561859chr6:100988263ENST000005226500131544_17390732.0DomainHelicase C-terminal 2
TgeneASCC3chr6:151561859chr6:100988263ENST000005226500131812_21760732.0DomainNote=SEC63 2
TgeneASCC3chr6:151561859chr6:100988263ENST00000522650013486_6690732.0DomainHelicase ATP-binding 1
TgeneASCC3chr6:151561859chr6:100988263ENST00000522650013728_9140732.0DomainHelicase C-terminal 1
TgeneASCC3chr6:151561859chr6:100988263ENST00000522650013978_12870732.0DomainNote=SEC63 1
TgeneASCC3chr6:151561859chr6:100988263ENST00000369143041453_14560112.0MotifNote=DEIH box
TgeneASCC3chr6:151561859chr6:100988263ENST0000036914304611_6140112.0MotifNote=DEVH box
TgeneASCC3chr6:151561859chr6:100988263ENST000005226500131453_14560732.0MotifNote=DEIH box
TgeneASCC3chr6:151561859chr6:100988263ENST00000522650013611_6140732.0MotifNote=DEVH box
TgeneASCC3chr6:151561859chr6:100988263ENST00000369143041349_13560112.0Nucleotide bindingATP
TgeneASCC3chr6:151561859chr6:100988263ENST0000036914304499_5060112.0Nucleotide bindingATP
TgeneASCC3chr6:151561859chr6:100988263ENST000005226500131349_13560732.0Nucleotide bindingATP
TgeneASCC3chr6:151561859chr6:100988263ENST00000522650013499_5060732.0Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAKAP12chr6:151561859chr6:100988263ENST00000253332+1498_10154.02015.0Compositional biasNote=Poly-Glu
HgeneAKAP12chr6:151561859chr6:100988263ENST00000354675+1398_10101968.0Compositional biasNote=Poly-Glu
HgeneAKAP12chr6:151561859chr6:100988263ENST00000359755+1398_10101993.3333333333333Compositional biasNote=Poly-Glu
HgeneAKAP12chr6:151561859chr6:100988263ENST00000402676+2598_10154.02706.3333333333335Compositional biasNote=Poly-Glu
HgeneAKAP12chr6:151561859chr6:100988263ENST00000253332+14607_62754.02015.0MotifAKAP CaM-binding 1
HgeneAKAP12chr6:151561859chr6:100988263ENST00000253332+14756_77654.02015.0MotifAKAP CaM-binding 2
HgeneAKAP12chr6:151561859chr6:100988263ENST00000253332+14801_82154.02015.0MotifAKAP CaM-binding 3
HgeneAKAP12chr6:151561859chr6:100988263ENST00000354675+13607_62701968.0MotifAKAP CaM-binding 1
HgeneAKAP12chr6:151561859chr6:100988263ENST00000354675+13756_77601968.0MotifAKAP CaM-binding 2
HgeneAKAP12chr6:151561859chr6:100988263ENST00000354675+13801_82101968.0MotifAKAP CaM-binding 3
HgeneAKAP12chr6:151561859chr6:100988263ENST00000359755+13607_62701993.3333333333333MotifAKAP CaM-binding 1
HgeneAKAP12chr6:151561859chr6:100988263ENST00000359755+13756_77601993.3333333333333MotifAKAP CaM-binding 2
HgeneAKAP12chr6:151561859chr6:100988263ENST00000359755+13801_82101993.3333333333333MotifAKAP CaM-binding 3
HgeneAKAP12chr6:151561859chr6:100988263ENST00000402676+25607_62754.02706.3333333333335MotifAKAP CaM-binding 1
HgeneAKAP12chr6:151561859chr6:100988263ENST00000402676+25756_77654.02706.3333333333335MotifAKAP CaM-binding 2
HgeneAKAP12chr6:151561859chr6:100988263ENST00000402676+25801_82154.02706.3333333333335MotifAKAP CaM-binding 3
HgeneAKAP12chr6:151561859chr6:100988263ENST00000253332+141541_155454.02015.0RegionRII-binding
HgeneAKAP12chr6:151561859chr6:100988263ENST00000253332+14266_55754.02015.0RegionInvolved in PKC-binding
HgeneAKAP12chr6:151561859chr6:100988263ENST00000354675+131541_155401968.0RegionRII-binding
HgeneAKAP12chr6:151561859chr6:100988263ENST00000354675+13266_55701968.0RegionInvolved in PKC-binding
HgeneAKAP12chr6:151561859chr6:100988263ENST00000359755+131541_155401993.3333333333333RegionRII-binding
HgeneAKAP12chr6:151561859chr6:100988263ENST00000359755+13266_55701993.3333333333333RegionInvolved in PKC-binding
HgeneAKAP12chr6:151561859chr6:100988263ENST00000402676+251541_155454.02706.3333333333335RegionRII-binding
HgeneAKAP12chr6:151561859chr6:100988263ENST00000402676+25266_55754.02706.3333333333335RegionInvolved in PKC-binding
TgeneASCC3chr6:151561859chr6:100988263ENST00000369162354218_791850.02203.0Coiled coilOntology_term=ECO:0000255
TgeneASCC3chr6:151561859chr6:100988263ENST000003691623542328_3561850.02203.0Coiled coilOntology_term=ECO:0000255
TgeneASCC3chr6:151561859chr6:100988263ENST0000036916235421336_15111850.02203.0DomainHelicase ATP-binding 2
TgeneASCC3chr6:151561859chr6:100988263ENST0000036916235421544_17391850.02203.0DomainHelicase C-terminal 2
TgeneASCC3chr6:151561859chr6:100988263ENST0000036916235421812_21761850.02203.0DomainNote=SEC63 2
TgeneASCC3chr6:151561859chr6:100988263ENST000003691623542486_6691850.02203.0DomainHelicase ATP-binding 1
TgeneASCC3chr6:151561859chr6:100988263ENST000003691623542728_9141850.02203.0DomainHelicase C-terminal 1
TgeneASCC3chr6:151561859chr6:100988263ENST000003691623542978_12871850.02203.0DomainNote=SEC63 1
TgeneASCC3chr6:151561859chr6:100988263ENST0000036916235421453_14561850.02203.0MotifNote=DEIH box
TgeneASCC3chr6:151561859chr6:100988263ENST000003691623542611_6141850.02203.0MotifNote=DEVH box
TgeneASCC3chr6:151561859chr6:100988263ENST0000036916235421349_13561850.02203.0Nucleotide bindingATP
TgeneASCC3chr6:151561859chr6:100988263ENST000003691623542499_5061850.02203.0Nucleotide bindingATP


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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 >>>820_AKAP12_151561859_ASCC3_100988263_ranked_0.pdbAKAP12151561859151561859ENST00000369162ASCC3chr6100988263-
MGAGSSTEQRSPEQPPEGSSTPAEPEPSGGGPSAEAAPDTTADPAIAASDPATKDAEEYTDLPVRHNEDHMNSELAKCLPIESNPHSFDS
PHTKAHLLLQAHLSRAMLPCPDYDTDTKTVLDQALRVCQAMLDVAANQGWLVTVLNITNLIQMVIQGRWLKDSSLLTLPNIENHHLHLFK
KWKPIMKGPHARGRTSIESLPELIHACGGKDHVFSSMVESELHAAKTKQAWNFLSHLPVINVGISVKGSWDDLVEGHNELSVSTLTADKR
DDNKWIKLHADQEYVLQVSLQRVHFGFHKGKPESCAVTPRFPKSKDEGWFLILGEVDKRELIALKRVGYIRNHHVASLSFYTPEIPGRYI
406


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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.
AKAP12_pLDDT.png
all structure
all structure
ASCC3_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
AKAP12
ASCC3


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 AKAP12-ASCC3


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 AKAP12-ASCC3


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