FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 17983

FusionGeneSummary for ITSN2_KIDINS220

check button Fusion gene summary
Fusion gene informationFusion gene name: ITSN2_KIDINS220
Fusion gene ID: 17983
HgeneTgene
Gene symbol

ITSN2

KIDINS220

Gene ID

50618

57498

Gene nameintersectin 2kinase D interacting substrate 220
SynonymsPRO2015|SH3D1B|SH3P18|SWA|SWAPARMS|SINO
Cytomap

2p23.3

2p25.1

Type of geneprotein-codingprotein-coding
Descriptionintersectin-2SH3 domain-containing protein 1BSH3P18-like WASP-associated proteinkinase D-interacting substrate of 220 kDaankyrin repeat-rich membrane-spanning proteinkinase D-interacting substrate 220kDa
Modification date2018051920180523
UniProtAcc

Q9NZM3

Q9ULH0

Ensembl transtripts involved in fusion geneENST00000361999, ENST00000355123, 
ENST00000406921, ENST00000407704, 
ENST00000418530, ENST00000256707, 
ENST00000427284, ENST00000473731, 
ENST00000319688, ENST00000436566, 
Fusion gene scores* DoF score9 X 8 X 4=2882 X 2 X 2=8
# samples 82
** MAII scorelog2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ITSN2 [Title/Abstract] AND KIDINS220 [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
HgeneITSN2

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
TCGARVSKCMTCGA-D3-A3CF-06AITSN2chr2

24498582

-KIDINS220chr2

8926487

-
* 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-shiftENST00000361999ENST00000418530ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000361999ENST00000256707ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000361999ENST00000427284ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000361999ENST00000473731ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000361999ENST00000319688ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
5CDS-intronENST00000361999ENST00000436566ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000355123ENST00000418530ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000355123ENST00000256707ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000355123ENST00000427284ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000355123ENST00000473731ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000355123ENST00000319688ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
5CDS-intronENST00000355123ENST00000436566ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000406921ENST00000418530ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000406921ENST00000256707ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000406921ENST00000427284ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000406921ENST00000473731ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
Frame-shiftENST00000406921ENST00000319688ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
5CDS-intronENST00000406921ENST00000436566ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
intron-3CDSENST00000407704ENST00000418530ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
intron-3CDSENST00000407704ENST00000256707ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
intron-3CDSENST00000407704ENST00000427284ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
intron-3CDSENST00000407704ENST00000473731ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
intron-3CDSENST00000407704ENST00000319688ITSN2chr2

24498582

-KIDINS220chr2

8926487

-
intron-intronENST00000407704ENST00000436566ITSN2chr2

24498582

-KIDINS220chr2

8926487

-

Top

FusionProtFeatures for ITSN2_KIDINS220


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITSN2

Q9NZM3

KIDINS220

Q9ULH0

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}. Promotes a prolonged MAP-kinase signaling byneurotrophins through activation of a Rap1-dependent mechanism.Provides a docking site for the CRKL-C3G complex, resulting inRap1-dependent sustained ERK activation. May play an importantrole in regulating postsynaptic signal transduction through thesyntrophin-mediated localization of receptor tyrosine kinases suchas EPHA4. In cooperation with SNTA1 can enhance EPHA4-inducedJAK/STAT activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neuriteoutgrowth. May play a role in neurotrophin- and ephrin-mediatedneuronal outgrowth and in axon guidance during neural developmentand in neuronal regeneration (By similarity). Modulates stress-induced apoptosis of melanoma cells via regulation of the MEK/ERKsignaling pathway. {ECO:0000250, ECO:0000269|PubMed:18089783}.

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


Top

FusionGeneSequence for ITSN2_KIDINS220


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).

Top

FusionGenePPI for ITSN2_KIDINS220


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
ITSN2BCCIP, 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, UBCKIDINS220MOB4, FN1, MYC, LGR4, HLA-DPA1, CEACAM21, CGRRF1, TXNDC15, VSIG4, EVA1C, FAF2, LDLRAD4, NTRK1, TMEM17, CLTC, GAK, KIF5B, PTPN1, RAB5C, RAB7A, RAB11A, VAPA, ATP6AP2, MYEF2, GOLT1B, GTSE1, CDH1, XPR1, FGFR2, VSIG1, MRAP2, B4GAT1, CLMP, MAGEE1, CD79B, TNFRSF1A, DKKL1, CDH5, MANSC1, PDHA1


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


Top

RelatedDrugs for ITSN2_KIDINS220


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for ITSN2_KIDINS220


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITSN2C0027643Neoplasm Recurrence, Local1CTD_human
HgeneITSN2C1458155Mammary Neoplasms1CTD_human
HgeneITSN2C1527336Sjogren's Syndrome1CTD_human