FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 34981

FusionGeneSummary for SMU1_AFAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMU1_AFAP1
Fusion gene ID: 34981
HgeneTgene
Gene symbol

SMU1

AFAP1

Gene ID

55234

60312

Gene nameSMU1, DNA replication regulator and spliceosomal factoractin filament associated protein 1
SynonymsBWD|SMU-1|fSAP57AFAP|AFAP-110|AFAP110
Cytomap

9p21.1

4p16.1

Type of geneprotein-codingprotein-coding
DescriptionWD40 repeat-containing protein SMU1DNA replication regulator and spliceosomal factorbrain-enriched WD-repeat proteinfunctional spliceosome-associated protein 57smu-1 suppressor of mec-8 and unc-52 homologsmu-1 suppressor of mec-8 and unc-52 protein hactin filament-associated protein 1110 kDa actin filament-associated proteinactin filament-associated protein, 110 kDa
Modification date2018052320180519
UniProtAcc

Q2TAY7

Q8N556

Ensembl transtripts involved in fusion geneENST00000397149, ENST00000536631, 
ENST00000360265, ENST00000358461, 
ENST00000420658, ENST00000382543, 
ENST00000513842, 
Fusion gene scores* DoF score5 X 4 X 4=802 X 2 X 2=8
# samples 52
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: SMU1 [Title/Abstract] AND AFAP1 [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
HgeneSMU1

GO:0000398

mRNA splicing, via spliceosome

28781166


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
TCGARVLUSCTCGA-63-A5MV-01ASMU1chr9

33068822

-AFAP1chr4

7873807

-
* 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
5CDS-5UTRENST00000397149ENST00000360265SMU1chr9

33068822

-AFAP1chr4

7873807

-
5CDS-5UTRENST00000397149ENST00000358461SMU1chr9

33068822

-AFAP1chr4

7873807

-
5CDS-5UTRENST00000397149ENST00000420658SMU1chr9

33068822

-AFAP1chr4

7873807

-
5CDS-5UTRENST00000397149ENST00000382543SMU1chr9

33068822

-AFAP1chr4

7873807

-
5CDS-intronENST00000397149ENST00000513842SMU1chr9

33068822

-AFAP1chr4

7873807

-
5CDS-5UTRENST00000536631ENST00000360265SMU1chr9

33068822

-AFAP1chr4

7873807

-
5CDS-5UTRENST00000536631ENST00000358461SMU1chr9

33068822

-AFAP1chr4

7873807

-
5CDS-5UTRENST00000536631ENST00000420658SMU1chr9

33068822

-AFAP1chr4

7873807

-
5CDS-5UTRENST00000536631ENST00000382543SMU1chr9

33068822

-AFAP1chr4

7873807

-
5CDS-intronENST00000536631ENST00000513842SMU1chr9

33068822

-AFAP1chr4

7873807

-

Top

FusionProtFeatures for SMU1_AFAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMU1

Q2TAY7

AFAP1

Q8N556

Auxiliary spliceosomal protein that regulates selectionof alternative splice sites in a small set of target pre-mRNAspecies (Probable). Regulates alternative splicing of the HSPG2pre-mRNA (By similarity). Required for normal mitotic spindleassembly and normal progress through mitosis (PubMed:15878348).Required for normal accumulation of IK (PubMed:24945353).{ECO:0000250|UniProtKB:Q76B40, ECO:0000269|PubMed:15878348,ECO:0000269|PubMed:24945353, ECO:0000305}. (Microbial infection) Required, together with IK, fornormal splicing of influenza A virus NS1 pre-mRNA, which isrequired for the production of the exportin NS2 and for theproduction of influenza A virus particles. Not required for theproduction of VSV virus particles. {ECO:0000269|PubMed:24945353}. 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}.

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


Top

FusionGeneSequence for SMU1_AFAP1


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).

Top

FusionGenePPI for SMU1_AFAP1


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
SMU1RAE1, CUL4B, SIRT7, CUL3, RBM39, SRSF1, SRSF3, ACIN1, SRSF5, SRSF11, RNPS1, PRPF8, SF3B3, LUC7L3, SAP18, HNRNPU, MATR3, HNRNPC, SAFB, RANBP2, VTN, KDM4B, NCSTN, RABEP1, ZC3H18, PHGDH, TFPI, EMD, SRSF10, TPBG, YBX1, LSM4, LSM8, MFAP1, IK, CD2BP2, GRB2, MRFAP1L1, CUL7, OBSL1, BMI1, FAM172A, FOXK2, IFI16, XPO1, SNCA, TSNAX, FBXW7, SNRNP200, RIOK1, PRPF6, EFTUD2, G3BP1, RNF157AFAP1AFAP1, 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, TES


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

RelatedDrugs for SMU1_AFAP1


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

Top

RelatedDiseases for SMU1_AFAP1


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