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Fusion gene ID: 993 |
FusionGeneSummary for AFAP1_SIN3A |
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Fusion gene information | Fusion gene name: AFAP1_SIN3A | Fusion gene ID: 993 | Hgene | Tgene | Gene symbol | AFAP1 | SIN3A | Gene ID | 60312 | 25942 |
Gene name | actin filament associated protein 1 | SIN3 transcription regulator family member A | |
Synonyms | AFAP|AFAP-110|AFAP110 | WITKOS | |
Cytomap | 4p16.1 | 15q24.2 | |
Type of gene | protein-coding | protein-coding | |
Description | actin filament-associated protein 1110 kDa actin filament-associated proteinactin filament-associated protein, 110 kDa | paired amphipathic helix protein Sin3aSIN3 homolog A, transcription regulatorhistone deacetylase complex subunit Sin3atranscriptional co-repressor Sin3Atranscriptional corepressor Sin3atranscriptional regulator, SIN3A | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q8N556 | Q96ST3 | |
Ensembl transtripts involved in fusion gene | ENST00000360265, ENST00000358461, ENST00000420658, ENST00000382543, ENST00000513842, | ENST00000394947, ENST00000360439, ENST00000394949, ENST00000567289, | |
Fusion gene scores | * DoF score | 8 X 10 X 6=480 | 5 X 5 X 3=75 |
# samples | 12 | 5 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF764786 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000360265 | ENST00000394947 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000360265 | ENST00000360439 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000360265 | ENST00000394949 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-intron | ENST00000360265 | ENST00000567289 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000358461 | ENST00000394947 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000358461 | ENST00000360439 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000358461 | ENST00000394949 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-intron | ENST00000358461 | ENST00000567289 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000420658 | ENST00000394947 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000420658 | ENST00000360439 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000420658 | ENST00000394949 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-intron | ENST00000420658 | ENST00000567289 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000382543 | ENST00000394947 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000382543 | ENST00000360439 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000382543 | ENST00000394949 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-intron | ENST00000382543 | ENST00000567289 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000513842 | ENST00000394947 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000513842 | ENST00000360439 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-3CDS | ENST00000513842 | ENST00000394949 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
intron-intron | ENST00000513842 | ENST00000567289 | AFAP1 | chr4 | 7791526 | - | SIN3A | chr15 | 75668146 | - |
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FusionProtFeatures for AFAP1_SIN3A |
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Hgene | Tgene |
AFAP1 | SIN3A |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for AFAP1_SIN3A |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for AFAP1_SIN3A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for AFAP1_SIN3A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SIN3A | C0013336 | Dwarfism | 1 | CTD_human |
Tgene | SIN3A | C0020255 | Hydrocephalus | 1 | CTD_human |
Tgene | SIN3A | C0025958 | Microcephaly | 1 | CTD_human |
Tgene | SIN3A | C0175754 | Agenesis of corpus callosum | 1 | CTD_human |
Tgene | SIN3A | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | SIN3A | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
Tgene | SIN3A | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |