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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: 993

FusionGeneSummary for AFAP1_SIN3A

check button Fusion gene summary
Fusion gene informationFusion gene name: AFAP1_SIN3A
Fusion gene ID: 993
HgeneTgene
Gene symbol

AFAP1

SIN3A

Gene ID

60312

25942

Gene nameactin filament associated protein 1SIN3 transcription regulator family member A
SynonymsAFAP|AFAP-110|AFAP110WITKOS
Cytomap

4p16.1

15q24.2

Type of geneprotein-codingprotein-coding
Descriptionactin filament-associated protein 1110 kDa actin filament-associated proteinactin filament-associated protein, 110 kDapaired amphipathic helix protein Sin3aSIN3 homolog A, transcription regulatorhistone deacetylase complex subunit Sin3atranscriptional co-repressor Sin3Atranscriptional corepressor Sin3atranscriptional regulator, SIN3A
Modification date2018051920180523
UniProtAcc

Q8N556

Q96ST3

Ensembl transtripts involved in fusion geneENST00000360265, ENST00000358461, 
ENST00000420658, ENST00000382543, 
ENST00000513842, 
ENST00000394947, 
ENST00000360439, ENST00000394949, 
ENST00000567289, 
Fusion gene scores* DoF score8 X 10 X 6=4805 X 5 X 3=75
# samples 125
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFAP1 [Title/Abstract] AND SIN3A [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
ChiTaRS3.1BF764786AFAP1chr4

7791526

-SIN3Achr15

75668146

-
* 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-3CDSENST00000360265ENST00000394947AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000360265ENST00000360439AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000360265ENST00000394949AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-intronENST00000360265ENST00000567289AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000358461ENST00000394947AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000358461ENST00000360439AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000358461ENST00000394949AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-intronENST00000358461ENST00000567289AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000420658ENST00000394947AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000420658ENST00000360439AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000420658ENST00000394949AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-intronENST00000420658ENST00000567289AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000382543ENST00000394947AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000382543ENST00000360439AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000382543ENST00000394949AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-intronENST00000382543ENST00000567289AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000513842ENST00000394947AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000513842ENST00000360439AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-3CDSENST00000513842ENST00000394949AFAP1chr4

7791526

-SIN3Achr15

75668146

-
intron-intronENST00000513842ENST00000567289AFAP1chr4

7791526

-SIN3Achr15

75668146

-

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FusionProtFeatures for AFAP1_SIN3A


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

Q8N556

SIN3A

Q96ST3

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}. Acts as a transcriptional repressor. Corepressor forREST. Interacts with MXI1 to repress MYC responsive genes andantagonize MYC oncogenic activities. Also interacts with MXD1-MAXheterodimers to repress transcription by tethering SIN3A to DNA.Acts cooperatively with OGT to repress transcription in parallelwith histone deacetylation. Involved in he control of thecircadian rhythms. Required for the transcriptional repression ofcircadian target genes, such as PER1, mediated by the large PERcomplex through histone deacetylation. Cooperates with FOXK1 toregulate cell cycle progression probably by repressing cell cycleinhibitor genes expression (By similarity).{ECO:0000250|UniProtKB:Q60520, ECO:0000269|PubMed:12150998}.

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_SIN3A


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_SIN3A


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


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RelatedDrugs for AFAP1_SIN3A


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_SIN3A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSIN3AC0013336Dwarfism1CTD_human
TgeneSIN3AC0020255Hydrocephalus1CTD_human
TgeneSIN3AC0025958Microcephaly1CTD_human
TgeneSIN3AC0175754Agenesis of corpus callosum1CTD_human
TgeneSIN3AC0376634Craniofacial Abnormalities1CTD_human
TgeneSIN3AC1510586Autism Spectrum Disorders1CTD_human
TgeneSIN3AC3714756Intellectual Disability1CTD_human;HPO