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Fusion gene ID: 1001 |
FusionGeneSummary for AFF1_KLHL8 |
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Fusion gene information | Fusion gene name: AFF1_KLHL8 | Fusion gene ID: 1001 | Hgene | Tgene | Gene symbol | AFF1 | KLHL8 | Gene ID | 4299 | 57563 |
Gene name | AF4/FMR2 family member 1 | kelch like family member 8 | |
Synonyms | AF4|MLLT2|PBM1 | - | |
Cytomap | 4q21.3-q22.1 | 4q22.1 | |
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 | kelch-like protein 8kelch-like 8 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | P51825 | Q9P2G9 | |
Ensembl transtripts involved in fusion gene | ENST00000395146, ENST00000307808, ENST00000544085, ENST00000511996, | ENST00000273963, ENST00000498875, ENST00000425278, ENST00000545252, ENST00000512111, ENST00000506274, | |
Fusion gene scores | * DoF score | 16 X 29 X 8=3712 | 2 X 2 X 2=8 |
# samples | 40 | 2 | |
** MAII score | log2(40/3712*10)=-3.21412480535285 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: AFF1 [Title/Abstract] AND KLHL8 [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 | KLHL8 | GO:0006511 | ubiquitin-dependent protein catabolic process | 19158078 |
Tgene | KLHL8 | GO:0016567 | protein ubiquitination | 19158078 |
![]() (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 | SARC | TCGA-3B-A9HS-01A | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
* 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-5UTR | ENST00000395146 | ENST00000273963 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000395146 | ENST00000498875 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000395146 | ENST00000425278 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000395146 | ENST00000545252 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000395146 | ENST00000512111 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-intron | ENST00000395146 | ENST00000506274 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000307808 | ENST00000273963 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000307808 | ENST00000498875 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000307808 | ENST00000425278 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000307808 | ENST00000545252 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000307808 | ENST00000512111 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-intron | ENST00000307808 | ENST00000506274 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000544085 | ENST00000273963 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000544085 | ENST00000498875 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000544085 | ENST00000425278 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000544085 | ENST00000545252 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-5UTR | ENST00000544085 | ENST00000512111 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
5CDS-intron | ENST00000544085 | ENST00000506274 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
intron-5UTR | ENST00000511996 | ENST00000273963 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
intron-5UTR | ENST00000511996 | ENST00000498875 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
intron-5UTR | ENST00000511996 | ENST00000425278 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
intron-5UTR | ENST00000511996 | ENST00000545252 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
intron-5UTR | ENST00000511996 | ENST00000512111 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
intron-intron | ENST00000511996 | ENST00000506274 | AFF1 | chr4 | 88016121 | + | KLHL8 | chr4 | 88116842 | - |
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FusionProtFeatures for AFF1_KLHL8 |
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Hgene | Tgene |
AFF1 | KLHL8 |
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin ligase complex required for The BCR(KLHL8) ubiquitinligase complex mediates ubiquitination and degradation of RAPSN.{ECO:0000269|PubMed:19158078}. |
![]() * 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_KLHL8 |
![]() (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_KLHL8 |
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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 | KLHL8 | COPS6, ELAVL1, CUL3, COPS5, DCUN1D1, ATXN1, COIL, USP7, BMI1, RAPSN, SNRNP70, RACGAP1, TAF15, CCDC120, GEMIN8, CCT3, CCT7, SIGLEC5, UBA5, SNRPF, SERPINF1, LGALS7 |
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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_KLHL8 |
![]() (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_KLHL8 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |