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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: 1012

FusionGeneSummary for AFF3_ASZ1

check button Fusion gene summary
Fusion gene informationFusion gene name: AFF3_ASZ1
Fusion gene ID: 1012
HgeneTgene
Gene symbol

AFF3

ASZ1

Gene ID

3899

136991

Gene nameAF4/FMR2 family member 3ankyrin repeat, SAM and basic leucine zipper domain containing 1
SynonymsLAF4|MLLT2-likeALP1|ANKL1|C7orf7|CT1.19|GASZ|Orf3
Cytomap

2q11.2

7q31.2

Type of geneprotein-codingprotein-coding
DescriptionAF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4ankyrin 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 date2018052320180523
UniProtAcc

P51826

Q8WWH4

Ensembl transtripts involved in fusion geneENST00000409236, ENST00000356421, 
ENST00000317233, ENST00000409579, 
ENST00000483600, 
ENST00000284629, 
Fusion gene scores* DoF score12 X 9 X 5=5405 X 3 X 3=45
# samples 123
** MAII scorelog2(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)

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

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
TCGARVBRCATCGA-AC-A2QH-01BAFF3chr2

100453939

-ASZ1chr7

117066989

-
* 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
Frame-shitENST00000409236ENST00000284629AFF3chr2

100453939

-ASZ1chr7

117066989

-
Frame-shitENST00000356421ENST00000284629AFF3chr2

100453939

-ASZ1chr7

117066989

-
Frame-shitENST00000317233ENST00000284629AFF3chr2

100453939

-ASZ1chr7

117066989

-
Frame-shitENST00000409579ENST00000284629AFF3chr2

100453939

-ASZ1chr7

117066989

-
intron-3CDSENST00000483600ENST00000284629AFF3chr2

100453939

-ASZ1chr7

117066989

-

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FusionProtFeatures for AFF3_ASZ1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AFF3

P51826

ASZ1

Q8WWH4

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}.

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 AFF3_ASZ1


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 AFF3_ASZ1


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
AFF3MLLT3, CDK9, PIP4K2AASZ1TSG101


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 AFF3_ASZ1


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 AFF3_ASZ1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAFF3C0003873Rheumatoid Arthritis2CTD_human
HgeneAFF3C0236969Substance-Related Disorders1CTD_human
TgeneASZ1C0033578Prostatic Neoplasms1CTD_human