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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: 989

FusionGeneSummary for AFAP1_EVC2

check button Fusion gene summary
Fusion gene informationFusion gene name: AFAP1_EVC2
Fusion gene ID: 989
HgeneTgene
Gene symbol

AFAP1

EVC2

Gene ID

60312

132884

Gene nameactin filament associated protein 1EvC ciliary complex subunit 2
SynonymsAFAP|AFAP-110|AFAP110LBN|WAD
Cytomap

4p16.1

4p16.2

Type of geneprotein-codingprotein-coding
Descriptionactin filament-associated protein 1110 kDa actin filament-associated proteinactin filament-associated protein, 110 kDalimbinEllis van Creveld syndrome 2ellis-van Creveld syndrome protein 2
Modification date2018051920180519
UniProtAcc

Q8N556

Q86UK5

Ensembl transtripts involved in fusion geneENST00000360265, ENST00000358461, 
ENST00000420658, ENST00000382543, 
ENST00000513842, 
ENST00000344938, 
ENST00000344408, ENST00000310917, 
Fusion gene scores* DoF score8 X 10 X 6=4802 X 2 X 2=8
# samples 122
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: AFAP1 [Title/Abstract] AND EVC2 [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
TCGALDOVTCGA-57-1585-01AAFAP1chr4

7941383

-EVC2chr4

5570367

-
* 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-3CDSENST00000360265ENST00000344938AFAP1chr4

7941383

-EVC2chr4

5570367

-
intron-3CDSENST00000360265ENST00000344408AFAP1chr4

7941383

-EVC2chr4

5570367

-
intron-3CDSENST00000360265ENST00000310917AFAP1chr4

7941383

-EVC2chr4

5570367

-
5UTR-3CDSENST00000358461ENST00000344938AFAP1chr4

7941383

-EVC2chr4

5570367

-
5UTR-3CDSENST00000358461ENST00000344408AFAP1chr4

7941383

-EVC2chr4

5570367

-
5UTR-3CDSENST00000358461ENST00000310917AFAP1chr4

7941383

-EVC2chr4

5570367

-
5UTR-3CDSENST00000420658ENST00000344938AFAP1chr4

7941383

-EVC2chr4

5570367

-
5UTR-3CDSENST00000420658ENST00000344408AFAP1chr4

7941383

-EVC2chr4

5570367

-
5UTR-3CDSENST00000420658ENST00000310917AFAP1chr4

7941383

-EVC2chr4

5570367

-
intron-3CDSENST00000382543ENST00000344938AFAP1chr4

7941383

-EVC2chr4

5570367

-
intron-3CDSENST00000382543ENST00000344408AFAP1chr4

7941383

-EVC2chr4

5570367

-
intron-3CDSENST00000382543ENST00000310917AFAP1chr4

7941383

-EVC2chr4

5570367

-
intron-3CDSENST00000513842ENST00000344938AFAP1chr4

7941383

-EVC2chr4

5570367

-
intron-3CDSENST00000513842ENST00000344408AFAP1chr4

7941383

-EVC2chr4

5570367

-
intron-3CDSENST00000513842ENST00000310917AFAP1chr4

7941383

-EVC2chr4

5570367

-

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FusionProtFeatures for AFAP1_EVC2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AFAP1

Q8N556

EVC2

Q86UK5

Can cross-link actin filaments into both network andbundle structures (By similarity). May modulate changes in actinfilament integrity and induce lamellipodia formation. May functionas an adapter molecule that links other proteins, such as SRC andPKC to the actin cytoskeleton. Seems to play a role in thedevelopment and progression of prostate adenocarcinoma byregulating cell-matrix adhesions and migration in the cancercells. {ECO:0000250, ECO:0000269|PubMed:15485829}. Component of the EvC complex that positively regulatesciliary Hedgehog (Hh) signaling. Plays a critical role in boneformation and skeletal development. May be involved in earlyembryonic morphogenesis. {ECO:0000250|UniProtKB:Q8K1G2}.

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 AFAP1_EVC2


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 AFAP1_EVC2


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
AFAP1AFAP1, ACTC1, PRKCB, PRKCE, PRKCG, PRKCD, PRKCA, MYC, NXF1, BRCA1, CAPZA2, CDK2, DBN1, FLNA, GAK, MYH9, MYO1C, PPP1CB, IQGAP1, SYNPO, MAPRE1, TPX2, LIMA1, ANLN, MYO5C, MYO19, MYO18A, EXT2, TRIM25, TESEVC2BANF1, SMAD9, ACBD3, ACSL3, AHCY, ALDH3A2, ANKLE2, ATP6AP1, ATP6AP2, BAG2, BCAP31, THEM6, CAMLG, CCDC47, CDKAL1, CKAP4, DDRGK1, DHRS7, EMD, ESYT1, FNDC3A, GLMN, HMOX2, JPH1, LBR, MAGT1, MLXIPL, MOGS, NSDHL, NUDC, NUDCD2, NUDCD3, PGRMC2, PLD3, POR, PREB, RABL3, RPN1, SCFD1, SEC11A, SEC24B, SEC63, SLC33A1, SMPD4, SOAT1, SPCS2, SPCS3, SRPR, SRPRB, STIM1, STT3B, STX5, TMEM199, TMEM57, TMX1, TOR1AIP1, TRIM13, EMC2, UBXN4, VANGL1, VEZT, VMA21, VRK2, ACTR2, CDC37, CLCC1, CYP51A1, DNAJC7, FKBP8, GRM5, GYS1, HSPBP1, ISOC1, LMBR1L, NUP155, PTPN1, ST7, STIP1, STUB1, SUGT1, NDC1, TTC1, UBE2J1, UNC45A, YWHAH


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 AFAP1_EVC2


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 AFAP1_EVC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEVC2C0013903Ellis-Van Creveld Syndrome2CTD_human;ORPHANET;UNIPROT