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Fusion gene ID: 32369 |
FusionGeneSummary for RTN4_MITD1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RTN4_MITD1 | Fusion gene ID: 32369 | Hgene | Tgene | Gene symbol | RTN4 | MITD1 | Gene ID | 57142 | 129531 |
Gene name | reticulon 4 | microtubule interacting and trafficking domain containing 1 | |
Synonyms | ASY|NI220/250|NOGO|NSP|NSP-CL|Nbla00271|Nbla10545|RTN-X|RTN4-A|RTN4-B1|RTN4-B2|RTN4-C | - | |
Cytomap | 2p16.1 | 2q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | reticulon-4Human NogoAMy043 proteinfoocenneurite growth inhibitor 220neurite outgrowth inhibitorneuroendocrine-specific protein C homologreticulon 5 | MIT domain-containing protein 1MIT, microtubule interacting and transport, domain containing 1 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q9NQC3 | Q8WV92 | |
Ensembl transtripts involved in fusion gene | ENST00000394609, ENST00000405240, ENST00000357376, ENST00000317610, ENST00000357732, ENST00000337526, ENST00000394611, ENST00000404909, ENST00000486085, ENST00000354474, ENST00000402434, | ENST00000289359, ENST00000466880, | |
Fusion gene scores | * DoF score | 8 X 15 X 4=480 | 1 X 1 X 1=1 |
# samples | 18 | 1 | |
** MAII score | log2(18/480*10)=-1.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: RTN4 [Title/Abstract] AND MITD1 [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 | RTN4 | GO:0030517 | negative regulation of axon extension | 10667797 |
Hgene | RTN4 | GO:0071787 | endoplasmic reticulum tubular network formation | 24262037|25612671 |
Hgene | RTN4 | GO:1905552 | positive regulation of protein localization to endoplasmic reticulum | 27353365 |
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 | LUSC | TCGA-66-2756-01A | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
* 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 |
intron-3CDS | ENST00000394609 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-5UTR | ENST00000394609 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-3CDS | ENST00000405240 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-5UTR | ENST00000405240 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-3CDS | ENST00000357376 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-5UTR | ENST00000357376 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
Frame-shift | ENST00000317610 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
5CDS-5UTR | ENST00000317610 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
Frame-shift | ENST00000357732 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
5CDS-5UTR | ENST00000357732 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
Frame-shift | ENST00000337526 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
5CDS-5UTR | ENST00000337526 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-3CDS | ENST00000394611 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-5UTR | ENST00000394611 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-3CDS | ENST00000404909 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-5UTR | ENST00000404909 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-3CDS | ENST00000486085 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-5UTR | ENST00000486085 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-3CDS | ENST00000354474 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
intron-5UTR | ENST00000354474 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
In-frame | ENST00000402434 | ENST00000289359 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
5CDS-5UTR | ENST00000402434 | ENST00000466880 | RTN4 | chr2 | 55276881 | - | MITD1 | chr2 | 99790479 | - |
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FusionProtFeatures for RTN4_MITD1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RTN4 | MITD1 |
Required for efficient abscission at the end ofcytokinesis, together with components of the ESCRT-III complex.{ECO:0000269|PubMed:23015756, ECO:0000269|PubMed:23045692}. |
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 RTN4_MITD1 |
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. |
>In-frame_RTN4_ENST00000402434_chr2_55276881_-_MITD1_ENST00000289359_chr2_99790479_-_357aa MEPEDEEEEEEEEEEDEDEDLEELEVLERKPAAGLSAAPVPTAPAAGAPLMDFGNDFVPPAPRGPLPAAPPVAPERQPSWDPSPVSSTVP APSPLSAAAVSPSKLPEDDEPPARPPPPPPASVSPQAEPVWTPPAPAPAAPPSTPAAPKRRGSSGSVGTKDNTKRCNLREKISKYMDRAE NIKKYLDQEKEDGKYHKQIKIEENATGFSYESLFREYLNETVTEVWIEDPYIRHTHQLYNFLRFCEMLIKRPCKVKTIHLLTSLDEGIEQ |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_RTN4_ENST00000402434_chr2_55276881_-_MITD1_ENST00000289359_chr2_99790479_-_1071nt ATGGAGCCCGAGGACGAGGAGGAAGAAGAGGAGGAGGAAGAGGAGGACGAGGACGAAGACCTGGAGGAGCTGGAGGTGCTGGAGAGGAAG CCCGCCGCCGGGCTGTCCGCGGCCCCAGTGCCCACCGCCCCTGCCGCCGGCGCGCCCCTGATGGACTTCGGAAATGACTTCGTGCCGCCG GCGCCCCGGGGACCCCTGCCGGCCGCTCCCCCCGTCGCCCCGGAGCGGCAGCCGTCTTGGGACCCGAGCCCGGTGTCGTCGACCGTGCCC GCGCCATCCCCGCTGTCTGCTGCCGCAGTCTCGCCCTCCAAGCTCCCTGAGGACGACGAGCCTCCGGCCCGGCCTCCCCCTCCTCCCCCG GCCAGCGTGAGCCCCCAGGCAGAGCCCGTGTGGACCCCGCCAGCCCCGGCTCCCGCCGCGCCCCCCTCCACCCCGGCCGCGCCCAAGCGC AGGGGCTCCTCGGGCTCAGTGGGTACCAAAGATAATACTAAGAGATGTAATCTCAGAGAAAAAATTTCCAAATACATGGACAGAGCGGAA AACATAAAGAAGTACTTGGACCAAGAAAAAGAAGATGGAAAATATCACAAGCAAATTAAAATAGAAGAGAATGCAACAGGTTTCAGTTAT GAGTCACTTTTTCGCGAATACCTTAATGAGACAGTTACAGAAGTTTGGATAGAAGATCCTTATATTAGACATACTCATCAGCTGTATAAC TTTCTTCGATTTTGTGAGATGCTTATTAAGAGACCATGTAAAGTAAAAACTATTCACCTTCTCACCTCTCTGGATGAAGGCATTGAGCAA GTGCAGCAAAGTAGAGGCCTGCAAGAAATAGAAGAGTCACTCAGGAGTCACGGAGTGCTGTTGGAAGTTCAATACTCTTCTTCAATACAT GACCGAGAAATTAGGTTCAACAATGGATGGATGATTAAGATTGGAAGGGGACTTGATTATTTTAAGAAACCACAGAGTCGTTTTTCCCTT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_RTN4_ENST00000402434_chr2_55276881_-_MITD1_ENST00000289359_chr2_99790479_-_1259nt CACAACCGCCCGCGGCTCTGAGACGCGGCCCCGGCGGCGGCGGCAGCAGCTGCAGCATCATCTCCACCCTCCAGCCATGGAGCCCGAGGA CGAGGAGGAAGAAGAGGAGGAGGAAGAGGAGGACGAGGACGAAGACCTGGAGGAGCTGGAGGTGCTGGAGAGGAAGCCCGCCGCCGGGCT GTCCGCGGCCCCAGTGCCCACCGCCCCTGCCGCCGGCGCGCCCCTGATGGACTTCGGAAATGACTTCGTGCCGCCGGCGCCCCGGGGACC CCTGCCGGCCGCTCCCCCCGTCGCCCCGGAGCGGCAGCCGTCTTGGGACCCGAGCCCGGTGTCGTCGACCGTGCCCGCGCCATCCCCGCT GTCTGCTGCCGCAGTCTCGCCCTCCAAGCTCCCTGAGGACGACGAGCCTCCGGCCCGGCCTCCCCCTCCTCCCCCGGCCAGCGTGAGCCC CCAGGCAGAGCCCGTGTGGACCCCGCCAGCCCCGGCTCCCGCCGCGCCCCCCTCCACCCCGGCCGCGCCCAAGCGCAGGGGCTCCTCGGG CTCAGTGGGTACCAAAGATAATACTAAGAGATGTAATCTCAGAGAAAAAATTTCCAAATACATGGACAGAGCGGAAAACATAAAGAAGTA CTTGGACCAAGAAAAAGAAGATGGAAAATATCACAAGCAAATTAAAATAGAAGAGAATGCAACAGGTTTCAGTTATGAGTCACTTTTTCG CGAATACCTTAATGAGACAGTTACAGAAGTTTGGATAGAAGATCCTTATATTAGACATACTCATCAGCTGTATAACTTTCTTCGATTTTG TGAGATGCTTATTAAGAGACCATGTAAAGTAAAAACTATTCACCTTCTCACCTCTCTGGATGAAGGCATTGAGCAAGTGCAGCAAAGTAG AGGCCTGCAAGAAATAGAAGAGTCACTCAGGAGTCACGGAGTGCTGTTGGAAGTTCAATACTCTTCTTCAATACATGACCGAGAAATTAG GTTCAACAATGGATGGATGATTAAGATTGGAAGGGGACTTGATTATTTTAAGAAACCACAGAGTCGTTTTTCCCTTGGATATTGTGATTT TGATTTAAGACCATGTCATGAAACAACAGTAGACATTTTTCATAAGAAGCATACAAAAAATATATGATGGGTGGTAGCCTAATTTGTATT |
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FusionGenePPI for RTN4_MITD1 |
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 |
RTN4 | BCL2, BCL2L1, LRCH4, PLEKHF2, RTN3, NAPA, SPG21, FXR2, RAB33A, COL4A3BP, SIRT2, CNTNAP1, KCNA1, KCNA2, CRMP1, PRR13, LRPAP1, RTN4IP1, UQCRC1, UQCRC2, WWP1, RPS27, HLA-DPB1, NR4A1, TERF1, POT1, CIRBP, ILF3, TJP1, HNRNPM, SLC9A3R2, ACAA2, TMEM65, SLC25A10, SNX12, IGFBP7, S100A16, EPPK1, DDB1, CLN8, ATF2, LAMA4, BAIAP2, RPA3, RPA2, RPA1, HUWE1, SNX1, ARL6IP1, SNX15, RTN4, ZFYVE21, SYT16, DERL1, DERL2, SGCZ, ATP1B3, GOLT1B, KTN1, TMEM70, TBL2, SH3PXD2A, HSDL1, CYB5R3, METTL7B, C4orf32, RTN1, RTN2, TMEM43, ARL6IP5, SCAMP1, ATL3, SPOP, SCAMP2, PRAF2, FAM210B, UNK, ATP1B1, ATP5O, DDX46, GRHPR, KIAA1033, ATIC, CFL1, EEF1D, HSD17B10, SBNO1, SSR3, VAPA, SNX2, NTRK1, TMEM216, GLP1R, CDH1, ATP1B2, TMEM128, RABAC1, TMEM208, ZPLD1, FPR2, VSIG1, TMEM222, FAM134C, TMEM68, HTR2C, GPR161, TRIM25, LMNA, YAP1 | MITD1 | CHMP2A, ATP6V1B1, ATF7, CHMP5, ZFYVE19, RPRD1A, CLTC, RAB5C, XRCC5, ATP6AP2, TFG, TMEM132A, CHMP4B, CENPU, STYX, MCPH1 |
- 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 RTN4_MITD1 |
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 RTN4_MITD1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RTN4 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | RTN4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | RTN4 | C0036341 | Schizophrenia | 1 | CTD_human |