|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 13395 |
FusionGeneSummary for FGFR1_TTLL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FGFR1_TTLL1 | Fusion gene ID: 13395 | Hgene | Tgene | Gene symbol | FGFR1 | TTLL1 | Gene ID | 2260 | 25809 |
| Gene name | fibroblast growth factor receptor 1 | tubulin tyrosine ligase like 1 | |
| Synonyms | BFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1 | C22orf7|HS323M22B | |
| Cytomap | 8p11.23 | 22q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fibroblast growth factor receptor 1FGFR1/PLAG1 fusionFMS-like tyrosine kinase 2basic fibroblast growth factor receptor 1fms-related tyrosine kinase 2heparin-binding growth factor receptorhydroxyaryl-protein kinaseproto-oncogene c-Fgr | probable tubulin polyglutamylase TTLL1PGs3catalytic subunit of neural tubulin polyglutamylasetubulin polyglutamylase complex subunit 3tubulin tyrosine ligase-like family, member 1tubulin--tyrosine ligase-like protein 1tubulin-tyrosine ligase | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P11362 | O95922 | |
| Ensembl transtripts involved in fusion gene | ENST00000425967, ENST00000397091, ENST00000447712, ENST00000341462, ENST00000532791, ENST00000397113, ENST00000356207, ENST00000335922, ENST00000326324, ENST00000397103, ENST00000397108, ENST00000496629, | ENST00000331018, ENST00000266254, ENST00000445824, | |
| Fusion gene scores | * DoF score | 11 X 9 X 5=495 | 4 X 3 X 4=48 |
| # samples | 12 | 6 | |
| ** MAII score | log2(12/495*10)=-2.04439411935845 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: FGFR1 [Title/Abstract] AND TTLL1 [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 | FGFR1 | GO:0008284 | positive regulation of cell proliferation | 8663044 |
| Hgene | FGFR1 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 8663044 |
| Hgene | FGFR1 | GO:0010863 | positive regulation of phospholipase C activity | 18480409 |
| Hgene | FGFR1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 8622701|18480409 |
| Hgene | FGFR1 | GO:0043406 | positive regulation of MAP kinase activity | 8622701|18480409 |
| Hgene | FGFR1 | GO:0046777 | protein autophosphorylation | 8622701 |
| Hgene | FGFR1 | GO:2000546 | positive regulation of endothelial cell chemotaxis to fibroblast growth factor | 21885851 |
| 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 | LD | OV | TCGA-25-2401-01A | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| * 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 | ENST00000425967 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000425967 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000425967 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000397091 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000397091 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000397091 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000447712 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000447712 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000447712 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000341462 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000341462 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000341462 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000532791 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000532791 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000532791 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000397113 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000397113 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000397113 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000356207 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000356207 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000356207 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5UTR-3CDS | ENST00000335922 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5UTR-3CDS | ENST00000335922 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5UTR-intron | ENST00000335922 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000326324 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000326324 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000326324 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| In-frame | ENST00000397103 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| In-frame | ENST00000397103 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000397103 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000397108 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| Frame-shift | ENST00000397108 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| 5CDS-intron | ENST00000397108 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| intron-3CDS | ENST00000496629 | ENST00000331018 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| intron-3CDS | ENST00000496629 | ENST00000266254 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
| intron-intron | ENST00000496629 | ENST00000445824 | FGFR1 | chr8 | 38314874 | - | TTLL1 | chr22 | 43435911 | - |
Top |
FusionProtFeatures for FGFR1_TTLL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FGFR1 | TTLL1 |
| Catalytic subunit of the neuronal tubulinpolyglutamylase complex. Modifies alpha- and beta-tubulin,generating side chains of glutamate on the gamma-carboxyl groupsof specific glutamate residues within the C-terminal tail ofalpha- and beta-tubulin (By similarity). {ECO:0000250}. |
| 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 |
Top |
FusionGeneSequence for FGFR1_TTLL1 |
| 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_FGFR1_ENST00000397103_chr8_38314874_-_TTLL1_ENST00000331018_chr22_43435911_-_73aa >In-frame_FGFR1_ENST00000397103_chr8_38314874_-_TTLL1_ENST00000266254_chr22_43435911_-_73aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_FGFR1_ENST00000397103_chr8_38314874_-_TTLL1_ENST00000331018_chr22_43435911_-_221nt ATGTGGAGCTGGAAGTGCCTCCTCTTCTGGGCTGTGCTGGTCACAGCCACACTCTGCACCGCTAGGCCGTCCCCGACCTTGCCTGAACAA GGTATGATGAAGAATTGGCCCAGGGTGACGGGGCTGACCGGGAGCTGAGAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGAT >In-frame_FGFR1_ENST00000397103_chr8_38314874_-_TTLL1_ENST00000266254_chr22_43435911_-_221nt ATGTGGAGCTGGAAGTGCCTCCTCTTCTGGGCTGTGCTGGTCACAGCCACACTCTGCACCGCTAGGCCGTCCCCGACCTTGCCTGAACAA GGTATGATGAAGAATTGGCCCAGGGTGACGGGGCTGACCGGGAGCTGAGAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGAT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_FGFR1_ENST00000397103_chr8_38314874_-_TTLL1_ENST00000331018_chr22_43435911_-_538nt GTGGAGTATCCATGGAGATGTGGAGCCTTGTCACCAACCTCTAACTGCAGAACTGGGATGTGGAGCTGGAAGTGCCTCCTCTTCTGGGCT GTGCTGGTCACAGCCACACTCTGCACCGCTAGGCCGTCCCCGACCTTGCCTGAACAAGGTATGATGAAGAATTGGCCCAGGGTGACGGGG CTGACCGGGAGCTGAGAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGATCGAGAGACTCGGGGAGAGCGGTCCTCACCACCT GGAAGTGAGTCCCACCTGGACCTTATCAAAACTACTCACTCCACCTGGGCCCCTGCTGAAGCCCTATTTTGAAATTTCCCTTTTGTAGAG CTTTTTTCCTTTCCTAAGCCCTGTAAATAAACGAAGGCACTTCTTTGGAAGGTTATGGAGTCTGTTTGACTAGTGCTAAAGGAAACAATT >In-frame_FGFR1_ENST00000397103_chr8_38314874_-_TTLL1_ENST00000266254_chr22_43435911_-_410nt GTGGAGTATCCATGGAGATGTGGAGCCTTGTCACCAACCTCTAACTGCAGAACTGGGATGTGGAGCTGGAAGTGCCTCCTCTTCTGGGCT GTGCTGGTCACAGCCACACTCTGCACCGCTAGGCCGTCCCCGACCTTGCCTGAACAAGGTATGATGAAGAATTGGCCCAGGGTGACGGGG CTGACCGGGAGCTGAGAAGCCGTCAGGGTCAGTCTCTGGGGCCCAGAGCAGGCCGATCGAGAGACTCGGGGAGAGCGGTCCTCACCACCT GGAAGTGAGTCCCACCTGGACCTTATCAAAACTACTCACTCCACCTGGGCCCCTGCTGAAGCCCTATTTTGAAATTTCCCTTTTGTAGAG |
Top |
FusionGenePPI for FGFR1_TTLL1 |
| 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 |
| FGFR1 | FDPS, FRS3, NCAM1, FGF1, FGFR1, FRS2, PLCG1, FGF2, SHB, GRB14, BNIP2, KPNB1, CREBBP, STAT3, JAK2, SRC, NEDD4, PPP2R1B, FGF23, PTK6, ITK, NCK1, VAV1, HSP90AA1, ERBB3, CTPS2, CDK9, RPS6KA3, CDC20, TSPAN3, CEACAM21, IL20RB, LGALS8, TGFBR2, GINM1, DLK1, LTBR, TNFRSF10B, EVI2A, MREG, HEPACAM2, GOLGA7B, LDLRAD4, CRK, CTNNB1, CDH1, FGF8, SOS1, PIK3R1, PKM, FGF3, FGF5, FGF6, FGF9, FGF10, FGF17, CD44, RPS6KA1, SLA, PIK3R2, SH3BP2, NCK2, TENC1, RTN1, RTN3, PVRL1, EPHA4, YES1, L1CAM, TNK2, AKT1, PDP1, FGFR2, FAM8A1, TMEM30B, LRRN2, LITAF, C16orf58, ZDHHC11, IFNGR1, GAD1, FCGRT, IL27RA, RAET1E, SLC1A1, C14orf37, MANSC1, TPCN2, CD79B, SCN3B, C19orf45, HTR1A, FLRT1, KAL1 | TTLL1 | CDC27, CCT6B, ANAPC5, CDC16, HECTD1, ANAPC1, ANAPC4, DNAJB4, ANAPC16, TBC1D19, LRRC49, CDC23, TPGS2, ANAPC2, HERC1, TPGS1, C11orf49, VCPIP1, NICN1, KIAA1841 |
| - 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 |
Top |
RelatedDrugs for FGFR1_TTLL1 |
| 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 |
| Hgene | FGFR1 | P11362 | DB00039 | Palifermin | Fibroblast growth factor receptor 1 | biotech | approved |
| Hgene | FGFR1 | P11362 | DB08896 | Regorafenib | Fibroblast growth factor receptor 1 | small molecule | approved |
| Hgene | FGFR1 | P11362 | DB09079 | Nintedanib | Fibroblast growth factor receptor 1 | small molecule | approved |
| Hgene | FGFR1 | P11362 | DB00398 | Sorafenib | Fibroblast growth factor receptor 1 | small molecule | approved|investigational |
| Hgene | FGFR1 | P11362 | DB01109 | Heparin | Fibroblast growth factor receptor 1 | small molecule | approved|investigational |
| Hgene | FGFR1 | P11362 | DB08901 | Ponatinib | Fibroblast growth factor receptor 1 | small molecule | approved|investigational |
| Hgene | FGFR1 | P11362 | DB09078 | Lenvatinib | Fibroblast growth factor receptor 1 | small molecule | approved|investigational |
Top |
RelatedDiseases for FGFR1_TTLL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FGFR1 | C1563720 | Kallmann Syndrome 2 (disorder) | 14 | ORPHANET;UNIPROT |
| Hgene | FGFR1 | C0011570 | Mental Depression | 5 | PSYGENET |
| Hgene | FGFR1 | C0011581 | Depressive disorder | 5 | CTD_human;HPO;PSYGENET |
| Hgene | FGFR1 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
| Hgene | FGFR1 | C0041696 | Unipolar Depression | 3 | PSYGENET |
| Hgene | FGFR1 | C1269683 | Major Depressive Disorder | 3 | PSYGENET |
| Hgene | FGFR1 | C0027022 | Myeloproliferative disease | 2 | CTD_human |
| Hgene | FGFR1 | C0220658 | Pfeiffer Syndrome | 2 | UNIPROT |
| Hgene | FGFR1 | C0406612 | Encephalocraniocutaneous lipomatosis | 2 | ORPHANET;UNIPROT |
| Hgene | FGFR1 | C0432283 | Osteoglophonic dwarfism | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | FGFR1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | FGFR1 | C1845146 | Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate | 2 | ORPHANET;UNIPROT |
| Hgene | FGFR1 | C0004114 | Astrocytoma | 1 | CTD_human |
| Hgene | FGFR1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | FGFR1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | FGFR1 | C0008924 | Cleft Lip | 1 | CTD_human;HPO |
| Hgene | FGFR1 | C0008925 | Cleft Palate | 1 | CTD_human;HPO |
| Hgene | FGFR1 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | FGFR1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | FGFR1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | FGFR1 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Hgene | FGFR1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | FGFR1 | C0432122 | Interfrontal craniofaciosynostosis | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|