FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ASAP1-KHDRBS3 (FusionGDB2 ID:6960)

Fusion Gene Summary for ASAP1-KHDRBS3

check button Fusion gene summary
Fusion gene informationFusion gene name: ASAP1-KHDRBS3
Fusion gene ID: 6960
HgeneTgene
Gene symbol

ASAP1

KHDRBS3

Gene ID

50807

10656

Gene nameArfGAP with SH3 domain, ankyrin repeat and PH domain 1KH RNA binding domain containing, signal transduction associated 3
SynonymsAMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14PEtle|SALP|SLM-2|SLM2|T-STAR|TSTAR|etoile
Cytomap

8q24.21-q24.22

8q24.23

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-ribosylKH domain-containing, RNA-binding, signal transduction-associated protein 3KH domain containing, RNA binding, signal transduction associated 3RNA-binding protein T-StarSam68-like phosphotyrosine protein, T-STARsam68-like mammalian protein 2
Modification date2020032720200313
UniProtAcc

Q9ULH1

O75525

Ensembl transtripts involved in fusion geneENST00000357668, ENST00000518721, 
ENST00000520625, 
ENST00000522578, 
ENST00000355849, ENST00000520981, 
Fusion gene scores* DoF score25 X 17 X 13=552511 X 10 X 10=1100
# samples 2814
** MAII scorelog2(28/5525*10)=-4.30247573222119
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/1100*10)=-2.97400479146706
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASAP1 [Title/Abstract] AND KHDRBS3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASAP1(131370263)-KHDRBS3(136533480), # samples:2
Anticipated loss of major functional domain due to fusion event.ASAP1-KHDRBS3 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 KHDRBS3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4LIHCTCGA-RC-A7SK-01AASAP1chr8

131370263

-KHDRBS3chr8

136533480

+


Top

Fusion Gene ORF analysis for ASAP1-KHDRBS3

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000357668ENST00000522578ASAP1chr8

131370263

-KHDRBS3chr8

136533480

+
5CDS-intronENST00000518721ENST00000522578ASAP1chr8

131370263

-KHDRBS3chr8

136533480

+
Frame-shiftENST00000357668ENST00000355849ASAP1chr8

131370263

-KHDRBS3chr8

136533480

+
Frame-shiftENST00000357668ENST00000520981ASAP1chr8

131370263

-KHDRBS3chr8

136533480

+
In-frameENST00000518721ENST00000355849ASAP1chr8

131370263

-KHDRBS3chr8

136533480

+
In-frameENST00000518721ENST00000520981ASAP1chr8

131370263

-KHDRBS3chr8

136533480

+
intron-3CDSENST00000520625ENST00000355849ASAP1chr8

131370263

-KHDRBS3chr8

136533480

+
intron-3CDSENST00000520625ENST00000520981ASAP1chr8

131370263

-KHDRBS3chr8

136533480

+
intron-intronENST00000520625ENST00000522578ASAP1chr8

131370263

-KHDRBS3chr8

136533480

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000518721ASAP1chr8131370263-ENST00000355849KHDRBS3chr8136533480+18934142211366381
ENST00000518721ASAP1chr8131370263-ENST00000520981KHDRBS3chr8136533480+1293414221766181

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
ENST00000518721ENST00000355849ASAP1chr8131370263-KHDRBS3chr8136533480+0.000263270.9997367
ENST00000518721ENST00000520981ASAP1chr8131370263-KHDRBS3chr8136533480+0.0006865150.9993135

Top

Fusion Genomic Features for ASAP1-KHDRBS3


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ASAP1chr8131370262-KHDRBS3chr8136533479+2.32E-081
ASAP1chr8131370262-KHDRBS3chr8136533479+2.32E-081

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for ASAP1-KHDRBS3


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/chr8:136533480)
- 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

KHDRBS3

O75525

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: RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro. Binds optimally to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). RNA-binding abilities are down-regulated by tyrosine kinase PTK6 (PubMed:10564820, PubMed:19561594, PubMed:26758068). Involved in splice site selection of vascular endothelial growth factor (PubMed:15901763). In vitro regulates CD44 alternative splicing by direct binding to purine-rich exonic enhancer (By similarity). Can regulate alternative splicing of neurexins NRXN1-3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners such as neuroligins and LRRTM family members (PubMed:26758068). Targeted, cell-type specific splicing regulation of NRXN1 at AS4 is involved in neuronal glutamatergic synapse function and plasticity (By similarity). May regulate expression of KHDRBS2/SLIM-1 in defined brain neuron populations by modifying its alternative splicing (By similarity). Can bind FABP9 mRNA (By similarity). May play a role as a negative regulator of cell growth. Inhibits cell proliferation. {ECO:0000250|UniProtKB:Q9JLP1, ECO:0000250|UniProtKB:Q9R226, ECO:0000269|PubMed:10564820, ECO:0000269|PubMed:15901763, ECO:0000269|PubMed:19561594, ECO:0000269|PubMed:26758068}.; FUNCTION: (Microbial infection) Involved in post-transcriptional regulation of HIV-1 gene expression. {ECO:0000269|PubMed:11741900}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneKHDRBS3chr8:131370263chr8:136533480ENST0000035584909250_26129347.0Compositional biasNote=Pro-rich
TgeneKHDRBS3chr8:131370263chr8:136533480ENST0000035584909266_31629347.0Compositional biasNote=Tyr-rich
TgeneKHDRBS3chr8:131370263chr8:136533480ENST000003558490961_12729347.0DomainNote=KH

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASAP1chr8:131370263chr8:136533480ENST00000357668-229783_993621130.0Compositional biasNote=Pro-rich
HgeneASAP1chr8:131370263chr8:136533480ENST00000518721-330783_993621130.0Compositional biasNote=Pro-rich
HgeneASAP1chr8:131370263chr8:136533480ENST00000357668-2291067_1129621130.0DomainSH3
HgeneASAP1chr8:131370263chr8:136533480ENST00000357668-229324_416621130.0DomainPH
HgeneASAP1chr8:131370263chr8:136533480ENST00000357668-229439_560621130.0DomainArf-GAP
HgeneASAP1chr8:131370263chr8:136533480ENST00000518721-3301067_1129621130.0DomainSH3
HgeneASAP1chr8:131370263chr8:136533480ENST00000518721-330324_416621130.0DomainPH
HgeneASAP1chr8:131370263chr8:136533480ENST00000518721-330439_560621130.0DomainArf-GAP
HgeneASAP1chr8:131370263chr8:136533480ENST00000357668-229600_632621130.0RepeatNote=ANK 1
HgeneASAP1chr8:131370263chr8:136533480ENST00000357668-229636_665621130.0RepeatNote=ANK 2
HgeneASAP1chr8:131370263chr8:136533480ENST00000518721-330600_632621130.0RepeatNote=ANK 1
HgeneASAP1chr8:131370263chr8:136533480ENST00000518721-330636_665621130.0RepeatNote=ANK 2
HgeneASAP1chr8:131370263chr8:136533480ENST00000357668-229454_477621130.0Zinc fingerC4-type
HgeneASAP1chr8:131370263chr8:136533480ENST00000518721-330454_477621130.0Zinc fingerC4-type
TgeneKHDRBS3chr8:131370263chr8:136533480ENST00000355849091_16029347.0RegionInvolved in homodimerization


Top

Fusion Gene Sequence for ASAP1-KHDRBS3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>6960_6960_1_ASAP1-KHDRBS3_ASAP1_chr8_131370263_ENST00000518721_KHDRBS3_chr8_136533480_ENST00000355849_length(transcript)=1893nt_BP=414nt
CCCTTCCTGCGCCGCGCTCGGCTCCCGCGCCTCGCCTGGCCTGGCCGCTGCCGCGGGCGAGCACTGTGCGCTGGGCAGCCCCGGGCCCGC
GCCTCCCGCCCAGCCGGCGCTTCCCGGTCGCAGTTCGCTTTCCCACCCGAGAGCCGCGAGCGCCCGGCCGAACCCGCGATGGAATAATGC
CCAGCGGCCCGCCAGGTCCCGGTCGTTTTCTGATGTGACGGCTGAGACATGAGATCTTCAGCCTCCAGGCTCTCCAGTTTTTCGTCGAGA
GATTCACTATGGAATCGGATGCCGGACCAGATCTCTGTCTCGGAGTTCATCGCCGAGACCACCGAGGACTACAACTCGCCCACCACGTCC
AGCTTCACCACGCGGCTGCACAACTGCAGGAACACCGTCACGCTGCTGGAGGAGAAATAGAAAAGTTTCAAAAAGGAGAAGGCAAGGATG
AAGAAAAGTACATCGATGTGGTGATTAATAAGAACATGAAGCTGGGACAGAAAGTGTTAATTCCCGTAAAACAGTTCCCTAAGTTCAACT
TTGTGGGGAAACTTTTGGGTCCACGTGGCAATTCTCTGAAGCGTTTACAAGAAGAAACCTTGACAAAAATGTCCATCCTTGGGAAAGGTT
CCATGAGAGACAAGGCCAAGGAAGAAGAGTTGAGGAAAAGTGGAGAAGCGAAGTACTTCCATCTCAATGATGATCTCCATGTTCTCATTG
AAGTGTTTGCCCCACCTGCAGAAGCTTATGCCAGGATGGGACATGCTTTGGAAGAAATCAAAAAGTTCCTCATCCCTGATTATAATGATG
AGATCAGGCAAGCACAGCTCCAGGAGTTAACATATTTGAATGGTGGTTCAGAAAATGCAGATGTTCCAGTGGTTCGAGGGAAACCCACCT
TGCGTACAAGAGGTGTACCAGCCCCAGCAATAACCAGGGGAAGGGGAGGAGTTACAGCCCGGCCAGTTGGAGTTGTAGTACCACGAGGGA
CGCCAACTCCCAGAGGAGTCCTGTCCACCCGAGGGCCAGTGAGTCGGGGAAGAGGACTTCTCACTCCCAGAGCAAGAGGAGTCCCCCCAA
CTGGGTACAGACCTCCACCGCCACCCCCGACACAAGAGACTTATGGAGAATATGACTATGATGATGGATATGGCACTGCTTATGATGAAC
AGAGTTATGATTCCTATGATAACAGCTATAGCACCCCAGCCCAAAGTGGTGCTGATTACTATGATTACGGACATGGACTCAGTGAGGAGA
CTTATGATTCCTACGGGCAAGAAGAGTGGACTAACTCAAGACACAAGGCACCTTCAGCGAGGACAGCAAAGGGCGTCTACAGAGACCAGC
CATATGGCAGATACTGATTGTACTGTCTGATGTTGTGAAATAGCCAATCTCCACCAGTCCTGTATACTGTTCAAAGTAATTTTTTTCTAT
GAACAATCCCTTTTTAAATAAATCAGAATGCTTAAAATCTGAATGGATGGAACTTAAAACTACTTTGTTGAAACATCAACCTGGGCAGAA
AAAAAAAAAAAAAGACATGTAAAATTTTGTTATTTCCAGTCTGTATATGAAAAAATAGGTCATCAAAAGGAAAAAAAATAACTTTGATTA
ACTAGTGTTAAACAAAAAATAGGTTTACTAAATATGTTAATCTATTCTTTTAACATAAGCCTCACCTTTCATTTTAAAGGTTTCCATAGA
ATTTAGTTATTTTATCTTTCAGCCATATGCTAGTTTTTTTTTCTCTTGCCAACATGCGTAAAAAGGGAAGCCAATTACAAGTGCAAATAA
TGTGGTATTCTTTTGTAACTCAAGTCTTGAAATGTTCTGTAGTGTTAAGCAAAGTCTCCTCTTGCTTGATACTAAATAAACTTTTGAAAG

>6960_6960_1_ASAP1-KHDRBS3_ASAP1_chr8_131370263_ENST00000518721_KHDRBS3_chr8_136533480_ENST00000355849_length(amino acids)=381AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEIEKFQKGEGKDEEKYIDVVINKNMK
LGQKVLIPVKQFPKFNFVGKLLGPRGNSLKRLQEETLTKMSILGKGSMRDKAKEEELRKSGEAKYFHLNDDLHVLIEVFAPPAEAYARMG
HALEEIKKFLIPDYNDEIRQAQLQELTYLNGGSENADVPVVRGKPTLRTRGVPAPAITRGRGGVTARPVGVVVPRGTPTPRGVLSTRGPV
SRGRGLLTPRARGVPPTGYRPPPPPPTQETYGEYDYDDGYGTAYDEQSYDSYDNSYSTPAQSGADYYDYGHGLSEETYDSYGQEEWTNSR

--------------------------------------------------------------
>6960_6960_2_ASAP1-KHDRBS3_ASAP1_chr8_131370263_ENST00000518721_KHDRBS3_chr8_136533480_ENST00000520981_length(transcript)=1293nt_BP=414nt
CCCTTCCTGCGCCGCGCTCGGCTCCCGCGCCTCGCCTGGCCTGGCCGCTGCCGCGGGCGAGCACTGTGCGCTGGGCAGCCCCGGGCCCGC
GCCTCCCGCCCAGCCGGCGCTTCCCGGTCGCAGTTCGCTTTCCCACCCGAGAGCCGCGAGCGCCCGGCCGAACCCGCGATGGAATAATGC
CCAGCGGCCCGCCAGGTCCCGGTCGTTTTCTGATGTGACGGCTGAGACATGAGATCTTCAGCCTCCAGGCTCTCCAGTTTTTCGTCGAGA
GATTCACTATGGAATCGGATGCCGGACCAGATCTCTGTCTCGGAGTTCATCGCCGAGACCACCGAGGACTACAACTCGCCCACCACGTCC
AGCTTCACCACGCGGCTGCACAACTGCAGGAACACCGTCACGCTGCTGGAGGAGAAATAGAAAAGTTTCAAAAAGGAGAAGGCAAGGATG
AAGAAAAGTACATCGATGTGGTGATTAATAAGAACATGAAGCTGGGACAGAAAGTGTTAATTCCCGTAAAACAGTTCCCTAAGGACTATG
ATGATGGATATGGCACTGCTTATGATGAACAGAGTTATGATTCCTATGATAACAGCTATAGCACCCCAGCCCAAAGTGGTGCTGATTACT
ATGATTACGGACATGGACTCAGTGAGGAGACTTATGATTCCTACGGGCAAGAAGAGTGGACTAACTCAAGACACAAGGCACCTTCAGCGA
GGACAGCAAAGGGCGTCTACAGAGACCAGCCATATGGCAGATACTGATTGTACTGTCTGATGTTGTGAAATAGCCAATCTCCACCAGTCC
TGTATACTGTTCAAAGTAATTTTTTTCTATGAACAATCCCTTTTTAAATAAATCAGAATGCTTAAAATCTGAATGGATGGAACTTAAAAC
TACTTTGTTGAAACATCAACCTGGGCAGAAAAAAAAAAAAAAAGACATGTAAAATTTTGTTATTTCCAGTCTGTATATGAAAAAATAGGT
CATCAAAAGGAAAAAAAATAACTTTGATTAACTAGTGTTAAACAAAAAATAGGTTTACTAAATATGTTAATCTATTCTTTTAACATAAGC
CTCACCTTTCATTTTAAAGGTTTCCATAGAATTTAGTTATTTTATCTTTCAGCCATATGCTAGTTTTTTTTTCTCTTGCCAACATGCGTA
AAAAGGGAAGCCAATTACAAGTGCAAATAATGTGGTATTCTTTTGTAACTCAAGTCTTGAAATGTTCTGTAGTGTTAAGCAAAGTCTCCT

>6960_6960_2_ASAP1-KHDRBS3_ASAP1_chr8_131370263_ENST00000518721_KHDRBS3_chr8_136533480_ENST00000520981_length(amino acids)=181AA_BP=64
MRHEIFSLQALQFFVERFTMESDAGPDLCLGVHRRDHRGLQLAHHVQLHHAAAQLQEHRHAAGGEIEKFQKGEGKDEEKYIDVVINKNMK
LGQKVLIPVKQFPKDYDDGYGTAYDEQSYDSYDNSYSTPAQSGADYYDYGHGLSEETYDSYGQEEWTNSRHKAPSARTAKGVYRDQPYGR

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

Top

Fusion Gene PPI Analysis for ASAP1-KHDRBS3


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for ASAP1-KHDRBS3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ASAP1-KHDRBS3


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