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Fusion gene ID: 12947 |
FusionGeneSummary for FARP1_UCHL3 |
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Fusion gene information | Fusion gene name: FARP1_UCHL3 | Fusion gene ID: 12947 | Hgene | Tgene | Gene symbol | FARP1 | UCHL3 | Gene ID | 10160 | 7347 |
Gene name | FERM, ARH/RhoGEF and pleckstrin domain protein 1 | ubiquitin C-terminal hydrolase L3 | |
Synonyms | CDEP|FARP1-IT1|PLEKHC2|PPP1R75 | UCH-L3 | |
Cytomap | 13q32.2 | 13q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | FERM, ARHGEF and pleckstrin domain-containing protein 1FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)FERM, RhoGEF and pleckstrin domain-containing protein 1PH domain-containing family C member 2chondrocyte-derived ezrin-li | ubiquitin carboxyl-terminal hydrolase isozyme L3testicular tissue protein Li 221ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)ubiquitin thioesterase L3ubiquitin thiolesterase | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9Y4F1 | P15374 | |
Ensembl transtripts involved in fusion gene | ENST00000595437, ENST00000376586, ENST00000319562, ENST00000376581, ENST00000593990, | ENST00000377595, ENST00000606347, | |
Fusion gene scores | * DoF score | 14 X 11 X 7=1078 | 5 X 3 X 5=75 |
# samples | 13 | 5 | |
** MAII score | log2(13/1078*10)=-3.05177364972405 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FARP1 [Title/Abstract] AND UCHL3 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | FARP1 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
Tgene | UCHL3 | GO:0016579 | protein deubiquitination | 9521656 |
Tgene | UCHL3 | GO:0030163 | protein catabolic process | 21762696 |
![]() (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 | LUAD | TCGA-69-7979-01A | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000595437 | ENST00000377595 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
intron-intron | ENST00000595437 | ENST00000606347 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
5UTR-3CDS | ENST00000376586 | ENST00000377595 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
5UTR-intron | ENST00000376586 | ENST00000606347 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
5UTR-3CDS | ENST00000319562 | ENST00000377595 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
5UTR-intron | ENST00000319562 | ENST00000606347 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
5UTR-3CDS | ENST00000376581 | ENST00000377595 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
5UTR-intron | ENST00000376581 | ENST00000606347 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
intron-3CDS | ENST00000593990 | ENST00000377595 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
intron-intron | ENST00000593990 | ENST00000606347 | FARP1 | chr13 | 98795746 | + | UCHL3 | chr13 | 76134889 | + |
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FusionProtFeatures for FARP1_UCHL3 |
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Hgene | Tgene |
FARP1 | UCHL3 |
Functions as guanine nucleotide exchange factor forRAC1. May play a role in semaphorin signaling. Plays a role in theassembly and disassembly of dendritic filopodia, the formation ofdendritic spines, regulation of dendrite length and ultimately theformation of synapses (By similarity). {ECO:0000250}. | Deubiquitinating enzyme (DUB) that controls levels ofcellular ubiquitin through processing of ubiquitin precursors andubiquitinated proteins. Thiol protease that recognizes andhydrolyzes a peptide bond at the C-terminal glycine of eitherubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys atposition P3", and exhibits a preference towards 'Lys-48'-linkedubiquitin chains. Deubiquitinates ENAC in apical compartments,thereby regulating apical membrane recycling. Indirectly increasesthe phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. Maybe involved in working memory. Can hydrolyze UBB(+1), a mutatedform of ubiquitin which is not effectively degraded by theproteasome and is associated with neurogenerative disorders.{ECO:0000269|PubMed:19154770, ECO:0000269|PubMed:21762696,ECO:0000269|PubMed:22689415, ECO:0000269|PubMed:2530630,ECO:0000269|PubMed:9790970}. |
![]() * 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 FARP1_UCHL3 |
![]() (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 FARP1_UCHL3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
FARP1 | ELAVL1, NTRK1, CAPZA2, MYO1C, PDGFRA, AKAP1, SYNPO, GAR1, GEMIN7, BRD2, PTPRG, SNRPN, SDC1, SDC2, DCAF8, TRIM25 | UCHL3 | NEDD8, COPS5, COPS6, USP20, CLPB, SMAD1, HMP19, POGK, UBC, UBE2S, UCHL3, ATXN7L3, PJA1, TRIM63, TRIM55, TRIM54, USP21, USP15, USP28, TSN, ZFYVE19, AHCYL1, UBA6, ZNF593, USP48, USP9X, SSSCA1, USP34, USP5, UBE2V1, UBQLN1, CSE1L, UBE2A, XIAP, UBXN7, UBR1, UNK, ZYX, SNRPD1, UBE2L3, ZRANB2, ATP6V1F, PCMT1, TTC9C, SULT1A1, YAP1, UBE4B, TTC1, VPS33B, PBX1, NT5DC1, UBL7, LONRF1, TRIM27, BAG3, CDH1, PLA2G2A, ZMYM6, ACAA2, ARHGDIA, GDI1, GPX4, HINT1, IMPDH2, MAPRE1, PEBP1, PGD, STIP1, DLD, ENO1, ENO2, EZR, HSD17B10, ISYNA1, MSN, NUP93, P4HB, PPIB, RDX, SMS, SOD2, SUMO3, TAGLN, TAGLN2, TPD52, TPD52L1, UBA1, RAD51, ATM, ZEB1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FARP1_UCHL3 |
![]() (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 FARP1_UCHL3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FARP1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Tgene | UCHL3 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |