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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: 1017

FusionGeneSummary for AFF3_ITSN2

check button Fusion gene summary
Fusion gene informationFusion gene name: AFF3_ITSN2
Fusion gene ID: 1017
HgeneTgene
Gene symbol

AFF3

ITSN2

Gene ID

3899

50618

Gene nameAF4/FMR2 family member 3intersectin 2
SynonymsLAF4|MLLT2-likePRO2015|SH3D1B|SH3P18|SWA|SWAP
Cytomap

2q11.2

2p23.3

Type of geneprotein-codingprotein-coding
DescriptionAF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4intersectin-2SH3 domain-containing protein 1BSH3P18-like WASP-associated protein
Modification date2018052320180519
UniProtAcc

P51826

Q9NZM3

Ensembl transtripts involved in fusion geneENST00000409236, ENST00000356421, 
ENST00000317233, ENST00000409579, 
ENST00000483600, 
ENST00000361999, 
ENST00000355123, ENST00000406921, 
ENST00000407704, 
Fusion gene scores* DoF score12 X 9 X 5=5404 X 4 X 4=64
# samples 124
** MAII scorelog2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFF3 [Title/Abstract] AND ITSN2 [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
TgeneITSN2

GO:1903861

positive regulation of dendrite extension

23999003


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
TCGALDGBMTCGA-06-2561-01AAFF3chr2

100289000

-ITSN2chr2

24435617

-
* 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-shitENST00000409236ENST00000361999AFF3chr2

100289000

-ITSN2chr2

24435617

-
Frame-shitENST00000409236ENST00000355123AFF3chr2

100289000

-ITSN2chr2

24435617

-
5CDS-intronENST00000409236ENST00000406921AFF3chr2

100289000

-ITSN2chr2

24435617

-
5CDS-intronENST00000409236ENST00000407704AFF3chr2

100289000

-ITSN2chr2

24435617

-
Frame-shitENST00000356421ENST00000361999AFF3chr2

100289000

-ITSN2chr2

24435617

-
Frame-shitENST00000356421ENST00000355123AFF3chr2

100289000

-ITSN2chr2

24435617

-
5CDS-intronENST00000356421ENST00000406921AFF3chr2

100289000

-ITSN2chr2

24435617

-
5CDS-intronENST00000356421ENST00000407704AFF3chr2

100289000

-ITSN2chr2

24435617

-
Frame-shitENST00000317233ENST00000361999AFF3chr2

100289000

-ITSN2chr2

24435617

-
Frame-shitENST00000317233ENST00000355123AFF3chr2

100289000

-ITSN2chr2

24435617

-
5CDS-intronENST00000317233ENST00000406921AFF3chr2

100289000

-ITSN2chr2

24435617

-
5CDS-intronENST00000317233ENST00000407704AFF3chr2

100289000

-ITSN2chr2

24435617

-
Frame-shitENST00000409579ENST00000361999AFF3chr2

100289000

-ITSN2chr2

24435617

-
Frame-shitENST00000409579ENST00000355123AFF3chr2

100289000

-ITSN2chr2

24435617

-
5CDS-intronENST00000409579ENST00000406921AFF3chr2

100289000

-ITSN2chr2

24435617

-
5CDS-intronENST00000409579ENST00000407704AFF3chr2

100289000

-ITSN2chr2

24435617

-
intron-3CDSENST00000483600ENST00000361999AFF3chr2

100289000

-ITSN2chr2

24435617

-
intron-3CDSENST00000483600ENST00000355123AFF3chr2

100289000

-ITSN2chr2

24435617

-
intron-intronENST00000483600ENST00000406921AFF3chr2

100289000

-ITSN2chr2

24435617

-
intron-intronENST00000483600ENST00000407704AFF3chr2

100289000

-ITSN2chr2

24435617

-

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FusionProtFeatures for AFF3_ITSN2


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

P51826

ITSN2

Q9NZM3

Adapter protein that may provide indirect link betweenthe endocytic membrane traffic and the actin assembly machinery.May regulate the formation of clathrin-coated vesicles (CCPs).Seems to be involved in CCPs maturation including invagination orbudding. Involved in endocytosis of integrin beta-1 (ITGB1) andtransferrin receptor (TFR). Plays a role in dendrite formation bymelanocytes (PubMed:23999003). {ECO:0000269|PubMed:19458185,ECO:0000269|PubMed:22648170, ECO:0000269|PubMed:23999003}.

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_ITSN2


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_ITSN2


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, PIP4K2AITSN2BCCIP, PTN, TBL3, WAS, FCHSD1, SRGAP2, MAP4K3, SOS1, SEMA6A, SYNJ2, KIAA1549, YTHDF1, FNBP4, SNAP29, NR2C2, KDM1A, KXD1, LUC7L3, EPS15, EPS15L1, ERC1, GOLGA8A, GOLGB1, HOOK2, KCTD10, NBR1, PDE4DIP, RNF20, STX4, TACC1, TRIO, ANKRD17, CCDC88C, DST, RABEP1, ROCK1, RUFY1, TMF1, AGT, AHDC1, CBL, CHIC2, CPSF6, DNM2, FASLG, FCHSD2, GPNMB, ITPKA, LARP6, LTBP4, MBNL1, PDCD6IP, PIK3AP1, PIK3C2B, RBMX, REPS1, DLGAP1, SH3KBP1, SOS2, SYN1, WASL, WIPF1, WIPF2, GOLGA2, SH3GL1, AMPH, YLPM1, WASF2, HNRNPK, GAREML, ITSN1, ITSN2, KHDRBS1, PPP1CC, PSEN1, LSM8, EGFR, AP2M1, FBF1, NINL, EZH2, TM9SF4, RNF41, GOLT1B, SMEK1, MRPL9, NCKIPSD, AP2S1, UBC


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_ITSN2


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_ITSN2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAFF3C0003873Rheumatoid Arthritis2CTD_human
HgeneAFF3C0236969Substance-Related Disorders1CTD_human
TgeneITSN2C0027643Neoplasm Recurrence, Local1CTD_human
TgeneITSN2C1458155Mammary Neoplasms1CTD_human
TgeneITSN2C1527336Sjogren's Syndrome1CTD_human