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Fusion gene ID: 18780 |
FusionGeneSummary for KIDINS220_MYT1L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KIDINS220_MYT1L | Fusion gene ID: 18780 | Hgene | Tgene | Gene symbol | KIDINS220 | MYT1L | Gene ID | 57498 | 23040 |
| Gene name | kinase D interacting substrate 220 | myelin transcription factor 1 like | |
| Synonyms | ARMS|SINO | MRD39|NZF1|ZC2H2C2|ZC2HC4B|myT1-L | |
| Cytomap | 2p25.1 | 2p25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kinase D-interacting substrate of 220 kDaankyrin repeat-rich membrane-spanning proteinkinase D-interacting substrate 220kDa | myelin transcription factor 1-like proteinneural zinc finger transcription factor 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9ULH0 | Q9UL68 | |
| Ensembl transtripts involved in fusion gene | ENST00000418530, ENST00000256707, ENST00000427284, ENST00000473731, ENST00000319688, ENST00000436566, | ENST00000399161, ENST00000428368, ENST00000407844, ENST00000471668, | |
| Fusion gene scores | * DoF score | 8 X 6 X 5=240 | 5 X 5 X 4=100 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/240*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KIDINS220 [Title/Abstract] AND MYT1L [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 |
| 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 | KIRP | TCGA-G7-6792-01A | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| * 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 |
| 5UTR-5UTR | ENST00000418530 | ENST00000399161 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-5UTR | ENST00000418530 | ENST00000428368 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-intron | ENST00000418530 | ENST00000407844 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-intron | ENST00000418530 | ENST00000471668 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-5UTR | ENST00000256707 | ENST00000399161 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-5UTR | ENST00000256707 | ENST00000428368 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-intron | ENST00000256707 | ENST00000407844 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-intron | ENST00000256707 | ENST00000471668 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-5UTR | ENST00000427284 | ENST00000399161 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-5UTR | ENST00000427284 | ENST00000428368 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-intron | ENST00000427284 | ENST00000407844 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-intron | ENST00000427284 | ENST00000471668 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| intron-5UTR | ENST00000473731 | ENST00000399161 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| intron-5UTR | ENST00000473731 | ENST00000428368 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| intron-intron | ENST00000473731 | ENST00000407844 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| intron-intron | ENST00000473731 | ENST00000471668 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-5UTR | ENST00000319688 | ENST00000399161 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-5UTR | ENST00000319688 | ENST00000428368 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-intron | ENST00000319688 | ENST00000407844 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| 5UTR-intron | ENST00000319688 | ENST00000471668 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| intron-5UTR | ENST00000436566 | ENST00000399161 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| intron-5UTR | ENST00000436566 | ENST00000428368 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| intron-intron | ENST00000436566 | ENST00000407844 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
| intron-intron | ENST00000436566 | ENST00000471668 | KIDINS220 | chr2 | 8977610 | - | MYT1L | chr2 | 2288275 | - |
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FusionProtFeatures for KIDINS220_MYT1L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KIDINS220 | MYT1L |
| 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}. | Transcription factor that plays a key role in neuronaldifferentiation by specifically repressing expression of non-neuronal genes during neuron differentiation. In contrast to othertranscription repressors that inhibit specific lineages, mediatesrepression of multiple differentiation programs. Also repressesexpression of negative regulators of neurogenesis, such as membersof the Notch signaling pathway, including HES1. The combination ofthree transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, issufficient to reprogram fibroblasts and other somatic cells intoinduced neuronal (iN) cells in vitro. Directly binds the 5'-AAGTT-3' core motif present on the promoter of target genes andrepresses transcription by recruiting a multiprotein complexcontaining SIN3B. The 5'-AAGTT-3' core motif is absent from thepromoter of neural genes. {ECO:0000250|UniProtKB:P97500}. |
| 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 KIDINS220_MYT1L |
| 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 KIDINS220_MYT1L |
| 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 |
| 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 | MYT1L | CDC5L, DISC1, AURKA |
| - 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 KIDINS220_MYT1L |
| 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 KIDINS220_MYT1L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MYT1L | C0036341 | Schizophrenia | 3 | PSYGENET |
| Tgene | MYT1L | C0036346 | Schizophrenia, Childhood | 1 | PSYGENET |
| Tgene | MYT1L | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | MYT1L | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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