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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: 1001

FusionGeneSummary for AFF1_KLHL8

check button Fusion gene summary
Fusion gene informationFusion gene name: AFF1_KLHL8
Fusion gene ID: 1001
HgeneTgene
Gene symbol

AFF1

KLHL8

Gene ID

4299

57563

Gene nameAF4/FMR2 family member 1kelch like family member 8
SynonymsAF4|MLLT2|PBM1-
Cytomap

4q21.3-q22.1

4q22.1

Type of geneprotein-codingprotein-coding
DescriptionAF4/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 AF4kelch-like protein 8kelch-like 8
Modification date2018052320180522
UniProtAcc

P51825

Q9P2G9

Ensembl transtripts involved in fusion geneENST00000395146, ENST00000307808, 
ENST00000544085, ENST00000511996, 
ENST00000273963, ENST00000498875, 
ENST00000425278, ENST00000545252, 
ENST00000512111, ENST00000506274, 
Fusion gene scores* DoF score16 X 29 X 8=37122 X 2 X 2=8
# samples 402
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneKLHL8

GO:0006511

ubiquitin-dependent protein catabolic process

19158078

TgeneKLHL8

GO:0016567

protein ubiquitination

19158078


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
TCGARVSARCTCGA-3B-A9HS-01AAFF1chr4

88016121

+KLHL8chr4

88116842

-
* 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
5CDS-5UTRENST00000395146ENST00000273963AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000395146ENST00000498875AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000395146ENST00000425278AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000395146ENST00000545252AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000395146ENST00000512111AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-intronENST00000395146ENST00000506274AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000307808ENST00000273963AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000307808ENST00000498875AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000307808ENST00000425278AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000307808ENST00000545252AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000307808ENST00000512111AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-intronENST00000307808ENST00000506274AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000544085ENST00000273963AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000544085ENST00000498875AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000544085ENST00000425278AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000544085ENST00000545252AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-5UTRENST00000544085ENST00000512111AFF1chr4

88016121

+KLHL8chr4

88116842

-
5CDS-intronENST00000544085ENST00000506274AFF1chr4

88016121

+KLHL8chr4

88116842

-
intron-5UTRENST00000511996ENST00000273963AFF1chr4

88016121

+KLHL8chr4

88116842

-
intron-5UTRENST00000511996ENST00000498875AFF1chr4

88016121

+KLHL8chr4

88116842

-
intron-5UTRENST00000511996ENST00000425278AFF1chr4

88016121

+KLHL8chr4

88116842

-
intron-5UTRENST00000511996ENST00000545252AFF1chr4

88016121

+KLHL8chr4

88116842

-
intron-5UTRENST00000511996ENST00000512111AFF1chr4

88016121

+KLHL8chr4

88116842

-
intron-intronENST00000511996ENST00000506274AFF1chr4

88016121

+KLHL8chr4

88116842

-

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FusionProtFeatures for AFF1_KLHL8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AFF1

P51825

KLHL8

Q9P2G9

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}.

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 AFF1_KLHL8


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 AFF1_KLHL8


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
AFF1MLLT1, 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, TRIM25KLHL8COPS6, ELAVL1, CUL3, COPS5, DCUN1D1, ATXN1, COIL, USP7, BMI1, RAPSN, SNRNP70, RACGAP1, TAF15, CCDC120, GEMIN8, CCT3, CCT7, SIGLEC5, UBA5, SNRPF, SERPINF1, LGALS7


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 AFF1_KLHL8


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 AFF1_KLHL8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource