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Fusion gene ID: 17983 |
FusionGeneSummary for ITSN2_KIDINS220 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ITSN2_KIDINS220 | Fusion gene ID: 17983 | Hgene | Tgene | Gene symbol | ITSN2 | KIDINS220 | Gene ID | 50618 | 57498 |
Gene name | intersectin 2 | kinase D interacting substrate 220 | |
Synonyms | PRO2015|SH3D1B|SH3P18|SWA|SWAP | ARMS|SINO | |
Cytomap | 2p23.3 | 2p25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | intersectin-2SH3 domain-containing protein 1BSH3P18-like WASP-associated protein | kinase D-interacting substrate of 220 kDaankyrin repeat-rich membrane-spanning proteinkinase D-interacting substrate 220kDa | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9NZM3 | Q9ULH0 | |
Ensembl transtripts involved in fusion gene | ENST00000361999, ENST00000355123, ENST00000406921, ENST00000407704, | ENST00000418530, ENST00000256707, ENST00000427284, ENST00000473731, ENST00000319688, ENST00000436566, | |
Fusion gene scores | * DoF score | 9 X 8 X 4=288 | 2 X 2 X 2=8 |
# samples | 8 | 2 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ITSN2 | GO:1903861 | positive regulation of dendrite extension | 23999003 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SKCM | TCGA-D3-A3CF-06A | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000361999 | ENST00000418530 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000361999 | ENST00000256707 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000361999 | ENST00000427284 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000361999 | ENST00000473731 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000361999 | ENST00000319688 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
5CDS-intron | ENST00000361999 | ENST00000436566 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000355123 | ENST00000418530 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000355123 | ENST00000256707 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000355123 | ENST00000427284 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000355123 | ENST00000473731 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000355123 | ENST00000319688 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
5CDS-intron | ENST00000355123 | ENST00000436566 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000406921 | ENST00000418530 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000406921 | ENST00000256707 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000406921 | ENST00000427284 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000406921 | ENST00000473731 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
Frame-shift | ENST00000406921 | ENST00000319688 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
5CDS-intron | ENST00000406921 | ENST00000436566 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
intron-3CDS | ENST00000407704 | ENST00000418530 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
intron-3CDS | ENST00000407704 | ENST00000256707 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
intron-3CDS | ENST00000407704 | ENST00000427284 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
intron-3CDS | ENST00000407704 | ENST00000473731 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
intron-3CDS | ENST00000407704 | ENST00000319688 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
intron-intron | ENST00000407704 | ENST00000436566 | ITSN2 | chr2 | 24498582 | - | KIDINS220 | chr2 | 8926487 | - |
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FusionProtFeatures for ITSN2_KIDINS220 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ITSN2 | KIDINS220 |
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}. |
Retention 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 . * 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 ITSN2_KIDINS220 |
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 ITSN2_KIDINS220 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ITSN2 | BCCIP, 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 | KIDINS220 | MOB4, 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 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ITSN2_KIDINS220 |
Drugs targeting genes involved in this fusion gene. (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 ITSN2_KIDINS220 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ITSN2 | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
Hgene | ITSN2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | ITSN2 | C1527336 | Sjogren's Syndrome | 1 | CTD_human |