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Fusion gene ID: 1004 |
FusionGeneSummary for AFF1_PAQR3 |
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Fusion gene information | Fusion gene name: AFF1_PAQR3 | Fusion gene ID: 1004 | Hgene | Tgene | Gene symbol | AFF1 | PAQR3 | Gene ID | 4299 | 152559 |
Gene name | AF4/FMR2 family member 1 | progestin and adipoQ receptor family member 3 | |
Synonyms | AF4|MLLT2|PBM1 | RKTG | |
Cytomap | 4q21.3-q22.1 | 4q21.21 | |
Type of gene | protein-coding | protein-coding | |
Description | AF4/FMR2 family member 1ALL1-fused gene from chromosome 4 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2pre-B-cell monocytic leukemia partner 1proto-oncogene AF4 | progestin and adipoQ receptor family member 3Raf kinase trapping to Golgiprogestin and adipoQ receptor family member III | |
Modification date | 20180523 | 20180520 | |
UniProtAcc | P51825 | Q6TCH7 | |
Ensembl transtripts involved in fusion gene | ENST00000395146, ENST00000307808, ENST00000544085, ENST00000511996, | ENST00000295462, ENST00000512733, ENST00000515541, ENST00000380645, | |
Fusion gene scores | * DoF score | 16 X 29 X 8=3712 | 3 X 3 X 3=27 |
# samples | 40 | 3 | |
** MAII score | log2(40/3712*10)=-3.21412480535285 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: AFF1 [Title/Abstract] AND PAQR3 [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 |
Tgene | PAQR3 | GO:0001933 | negative regulation of protein phosphorylation | 17724343 |
Tgene | PAQR3 | GO:0010977 | negative regulation of neuron projection development | 17724343 |
Tgene | PAQR3 | GO:0033137 | negative regulation of peptidyl-serine phosphorylation | 17724343 |
Tgene | PAQR3 | GO:0043407 | negative regulation of MAP kinase activity | 17724343 |
![]() (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 | PRAD | TCGA-CH-5763-01A | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
* 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 |
5CDS-3UTR | ENST00000395146 | ENST00000295462 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-intron | ENST00000395146 | ENST00000512733 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-intron | ENST00000395146 | ENST00000515541 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-intron | ENST00000395146 | ENST00000380645 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-3UTR | ENST00000307808 | ENST00000295462 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-intron | ENST00000307808 | ENST00000512733 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-intron | ENST00000307808 | ENST00000515541 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-intron | ENST00000307808 | ENST00000380645 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-3UTR | ENST00000544085 | ENST00000295462 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-intron | ENST00000544085 | ENST00000512733 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-intron | ENST00000544085 | ENST00000515541 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
5CDS-intron | ENST00000544085 | ENST00000380645 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
intron-3UTR | ENST00000511996 | ENST00000295462 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
intron-intron | ENST00000511996 | ENST00000512733 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
intron-intron | ENST00000511996 | ENST00000515541 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
intron-intron | ENST00000511996 | ENST00000380645 | AFF1 | chr4 | 88016121 | + | PAQR3 | chr4 | 79808463 | - |
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FusionProtFeatures for AFF1_PAQR3 |
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Hgene | Tgene |
AFF1 | PAQR3 |
Functions as a spatial regulator of RAF1 kinase bysequestrating it to the Golgi. {ECO:0000269|PubMed:18547165}. |
![]() * 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 AFF1_PAQR3 |
![]() (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 AFF1_PAQR3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
AFF1 | MLLT1, CCNT1, NT5E, MLLT3, CDK9, AFF4, KMT2A, AFF1, BRD4, RELA, NPM1, PCSK1, MLLT10, DOT1L, POLR2A, DDX6, HEXIM1, HIST3H3, NSD1, CARM1, SIAH1, SIAH2, SMAD9, MED26, EAF1, ELL2, LARP7, ELL3, HDAC1, MYH7, SLC16A6, ZNF526, VDR, PIP4K2A, CAMKV, TRIM25 | PAQR3 | DDB2, BTRC, TWIST1, NFE2L2, KEAP1 |
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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 AFF1_PAQR3 |
![]() (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 AFF1_PAQR3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |