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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 1083

FusionGeneSummary for AGAP3_MKLN1

check button Fusion gene summary
Fusion gene informationFusion gene name: AGAP3_MKLN1
Fusion gene ID: 1083
HgeneTgene
Gene symbol

AGAP3

MKLN1

Gene ID

116988

4289

Gene nameArfGAP with GTPase domain, ankyrin repeat and PH domain 3muskelin 1
SynonymsAGAP-3|CENTG3|CRAG|MRIP-1|cnt-g3TWA2
Cytomap

7q36.1

7q32.3

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with GTPase, ANK repeat and PH domain-containing protein 3CRAM-associated GTPaseCRMP (collapsin response mediator protein) associatedMR1-interacting proteincentaurin-gamma-3muskelinmuskelin 1, intracellular mediator containing kelch motifs
Modification date2018052320180522
UniProtAcc

Q96P47

Q9UL63

Ensembl transtripts involved in fusion geneENST00000463381, ENST00000473312, 
ENST00000479901, ENST00000397238, 
ENST00000476375, ENST00000335367, 
ENST00000421797, ENST00000429546, 
ENST00000352689, ENST00000498778, 
Fusion gene scores* DoF score10 X 4 X 7=28010 X 9 X 6=540
# samples 811
** MAII scorelog2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/540*10)=-2.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGAP3 [Title/Abstract] AND MKLN1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDKIRCTCGA-A3-3363-01AAGAP3chr7

150784159

+MKLN1chr7

131071879

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-5UTRENST00000463381ENST00000421797AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-5UTRENST00000463381ENST00000429546AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-5UTRENST00000463381ENST00000352689AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-intronENST00000463381ENST00000498778AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-5UTRENST00000473312ENST00000421797AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-5UTRENST00000473312ENST00000429546AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-5UTRENST00000473312ENST00000352689AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-intronENST00000473312ENST00000498778AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-5UTRENST00000479901ENST00000421797AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-5UTRENST00000479901ENST00000429546AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-5UTRENST00000479901ENST00000352689AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-intronENST00000479901ENST00000498778AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-5UTRENST00000397238ENST00000421797AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-5UTRENST00000397238ENST00000429546AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-5UTRENST00000397238ENST00000352689AGAP3chr7

150784159

+MKLN1chr7

131071879

+
5CDS-intronENST00000397238ENST00000498778AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-5UTRENST00000476375ENST00000421797AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-5UTRENST00000476375ENST00000429546AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-5UTRENST00000476375ENST00000352689AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-intronENST00000476375ENST00000498778AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-5UTRENST00000335367ENST00000421797AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-5UTRENST00000335367ENST00000429546AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-5UTRENST00000335367ENST00000352689AGAP3chr7

150784159

+MKLN1chr7

131071879

+
intron-intronENST00000335367ENST00000498778AGAP3chr7

150784159

+MKLN1chr7

131071879

+

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FusionProtFeatures for AGAP3_MKLN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AGAP3

Q96P47

MKLN1

Q9UL63

GTPase-activating protein for the ADP ribosylationfactor family (Potential). GTPase which may be involved in thedegradation of expanded polyglutamine proteins through theubiquitin-proteasome pathway. {ECO:0000269|PubMed:16461359,ECO:0000305}. Acts as a mediator of cell spreading and cytoskeletalresponses to the extracellular matrix component THBS1.{ECO:0000250|UniProtKB:O89050}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for AGAP3_MKLN1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for AGAP3_MKLN1


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
AGAP3YWHAB, FKBP6, MIER2, HSPB1, NTRK1, HERC2, FLCN, GPR156, ARHGAP22, LZTS2, KBTBD7, JPH4, TSC22D3, NUFIP2, TRIM25MKLN1RNPS1, MYC, RANBP9, ELAVL1, MKLN1, MAEA, GID8, RMND5A, SOX2, PTGER3, GDNF, GLIPR1L2, MMP7, SFRP2, TDGF1, GGH, MRPL4, GPS2, NR1H3, HLA-DPB1, ADCYAP1, PRG2, IFI30, UNK, DYNC1H1, BMP1, PRG3, INSL6, PIGT, CCDC120, TIGD5, SUCLA2, NFATC1, LILRB4, CARKD, IKZF1, C4orf27, TLE4, ARMC8, ZMYND19, GID4, HTRA2, WDR26, PMFBP1, AAMP, MMADHC, HSPBP1, LONP1, RSPH10B, NDUFS2, SOAT1, RMND5B, YPEL5, RANBP10, RAB8A, TRIM25


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


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RelatedDrugs for AGAP3_MKLN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for AGAP3_MKLN1


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