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Fusion gene ID: 1012 |
FusionGeneSummary for AFF3_ASZ1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: AFF3_ASZ1 | Fusion gene ID: 1012 | Hgene | Tgene | Gene symbol | AFF3 | ASZ1 | Gene ID | 3899 | 136991 |
Gene name | AF4/FMR2 family member 3 | ankyrin repeat, SAM and basic leucine zipper domain containing 1 | |
Synonyms | LAF4|MLLT2-like | ALP1|ANKL1|C7orf7|CT1.19|GASZ|Orf3 | |
Cytomap | 2q11.2 | 7q31.2 | |
Type of gene | protein-coding | protein-coding | |
Description | AF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4 | ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1ankyrin-like 1ankyrin-like protein 1germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P51826 | Q8WWH4 | |
Ensembl transtripts involved in fusion gene | ENST00000409236, ENST00000356421, ENST00000317233, ENST00000409579, ENST00000483600, | ENST00000284629, | |
Fusion gene scores | * DoF score | 12 X 9 X 5=540 | 5 X 3 X 3=45 |
# samples | 12 | 3 | |
** MAII score | log2(12/540*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/45*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AFF3 [Title/Abstract] AND ASZ1 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | BRCA | TCGA-AC-A2QH-01B | AFF3 | chr2 | 100453939 | - | ASZ1 | chr7 | 117066989 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000409236 | ENST00000284629 | AFF3 | chr2 | 100453939 | - | ASZ1 | chr7 | 117066989 | - |
Frame-shift | ENST00000356421 | ENST00000284629 | AFF3 | chr2 | 100453939 | - | ASZ1 | chr7 | 117066989 | - |
Frame-shift | ENST00000317233 | ENST00000284629 | AFF3 | chr2 | 100453939 | - | ASZ1 | chr7 | 117066989 | - |
Frame-shift | ENST00000409579 | ENST00000284629 | AFF3 | chr2 | 100453939 | - | ASZ1 | chr7 | 117066989 | - |
intron-3CDS | ENST00000483600 | ENST00000284629 | AFF3 | chr2 | 100453939 | - | ASZ1 | chr7 | 117066989 | - |
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FusionProtFeatures for AFF3_ASZ1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
AFF3 | ASZ1 |
Plays a central role during spermatogenesis byrepressing transposable elements and preventing theirmobilization, which is essential for the germline integrity. Actsvia the piRNA metabolic process, which mediates the repression oftransposable elements during meiosis by forming complexes composedof piRNAs and Piwi proteins and governs the methylation andsubsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolicprocess. Required prior to the pachytene stage to facilitate theproduction of multiple types of piRNAs, including those associatedwith repeats involved in the regulation of retrotransposons. Mayact by mediating protein-protein interactions during germ cellmaturation (By similarity). {ECO:0000250}. |
Retention 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 . * 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 AFF3_ASZ1 |
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 AFF3_ASZ1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
AFF3 | MLLT3, CDK9, PIP4K2A | ASZ1 | TSG101 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for AFF3_ASZ1 |
Drugs targeting genes involved in this fusion gene. (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 AFF3_ASZ1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | AFF3 | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
Hgene | AFF3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Tgene | ASZ1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |