|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 17702 |
FusionGeneSummary for IQSEC1_UCHL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IQSEC1_UCHL1 | Fusion gene ID: 17702 | Hgene | Tgene | Gene symbol | IQSEC1 | UCHL1 | Gene ID | 9922 | 7345 |
| Gene name | IQ motif and Sec7 domain 1 | ubiquitin C-terminal hydrolase L1 | |
| Synonyms | ARF-GEP100|ARFGEP100|BRAG2|GEP100 | HEL-117|HEL-S-53|NDGOA|PARK5|PGP 9.5|PGP9.5|PGP95|SPG79|Uch-L1 | |
| Cytomap | 3p25.2-p25.1 | 4p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | IQ motif and SEC7 domain-containing protein 1ADP-ribosylation factors guanine nucleotide-exchange protein 100ADP-ribosylation factors guanine nucleotide-exchange protein 2brefeldin A-resistant ARF-GEF2brefeldin-resistant Arf-GEF 2 protein | ubiquitin carboxyl-terminal hydrolase isozyme L1epididymis luminal protein 117epididymis secretory protein Li 53neuron cytoplasmic protein 9.5ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)ubiquitin thioesterase L1ubiquitin thioles | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q6DN90 | P09936 | |
| Ensembl transtripts involved in fusion gene | ENST00000273221, ENST00000473088, | ENST00000503431, ENST00000284440, ENST00000504818, ENST00000508768, ENST00000512788, | |
| Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 3 X 5 X 6=90 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: IQSEC1 [Title/Abstract] AND UCHL1 [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 |
| Tgene | UCHL1 | GO:0016579 | protein deubiquitination | 9521656 |
| Tgene | UCHL1 | GO:0043407 | negative regulation of MAP kinase activity | 19477270 |
| 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 |
| ChiTaRS3.1 | CK023998 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| * 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 | ENST00000273221 | ENST00000503431 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| In-frame | ENST00000273221 | ENST00000284440 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| 5CDS-intron | ENST00000273221 | ENST00000504818 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| 5CDS-intron | ENST00000273221 | ENST00000508768 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| 5CDS-intron | ENST00000273221 | ENST00000512788 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-3CDS | ENST00000473088 | ENST00000503431 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-3CDS | ENST00000473088 | ENST00000284440 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-intron | ENST00000473088 | ENST00000504818 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-intron | ENST00000473088 | ENST00000508768 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
| intron-intron | ENST00000473088 | ENST00000512788 | IQSEC1 | chr3 | 12938718 | - | UCHL1 | chr4 | 41270053 | + |
Top |
FusionProtFeatures for IQSEC1_UCHL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IQSEC1 | UCHL1 |
| Guanine nucleotide exchange factor for ARF1 and ARF6(PubMed:24058294). Guanine nucleotide exchange factor activity isenhanced by lipid binding (PubMed:24058294). Accelerates GTPbinding by ARFs of all three classes. Guanine nucleotide exchangeprotein for ARF6, mediating internalisation of beta-1 integrin.{ECO:0000269|PubMed:11226253, ECO:0000269|PubMed:16461286,ECO:0000269|PubMed:24058294}. | Ubiquitin-protein hydrolase involved both in theprocessing of ubiquitin precursors and of ubiquitinated proteins.This enzyme is a thiol protease that recognizes and hydrolyzes apeptide bond at the C-terminal glycine of ubiquitin. Also binds tofree monoubiquitin and may prevent its degradation in lysosomes.The homodimer may have ATP-independent ubiquitin ligase activity.{ECO:0000269|PubMed:12408865, ECO:0000269|PubMed:9790970}. |
| 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 IQSEC1_UCHL1 |
| 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_IQSEC1_ENST00000273221_chr3_12938718_-_UCHL1_ENST00000284440_chr4_41270053_+_0aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_IQSEC1_ENST00000273221_chr3_12938718_-_UCHL1_ENST00000284440_chr4_41270053_+_0nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_IQSEC1_ENST00000273221_chr3_12938718_-_UCHL1_ENST00000284440_chr4_41270053_+_5279nt GCGGGCTTGGCTGGCCTGGGGCTCGGACTTGGGGCCGGAGCCGCGGGAGCCGGCGGACGCTGGACCAGGAGCCCCGACGTGATCGCGTGG CGGGTGGTCGGGTCTCCGGGTGGCCGGGTGTCGGCCCCGGGATCCGGCGGCTCGCTGGCGGGAGTCGGCGGCCTCTGCTGGGCCTGGGTC CCGGCTCCCGGCCCGGCCCGCTCCCACTGCGGCCGCCATGTGGTGCCTGCACTGCAACTCGGAGAGGACCCAGTCCCTTCTGGAGCTAGA GCTTGACAGCGGCGTCGAGGGCGAGGCCCCCAGCAGTGAGACTGGCACATCCCTGGACAGCCCCTCAGCCTACCCCCAGGGCCCCTTGGT GCCCGGTTCCAGCCTGAGCCCGGATCACTACGAGCACACGTCAGTGGGAGCCTATGGGCTGTACTCGGGGCCGCCGGGGCAACAGCAGCG CACGCGGAGGCCCAAGCTGCAGCACTCGACCTCCATCCTGCGCAAGCAGGCTGAGGAGGAGGCCATCAAGCGCTCACGCTCACTCTCCGA GAGCTATGAGCTCTCCTCGGACCTGCAGGACAAGCAGGTGGAGATGCTAGAACGAAAGTATGGGGGGCGCCTGGTAACCCGCCATGCGGC CCGCACCATCCAGACGGCGTTTCGCCAGTACCAGATGAACAAGAACTTCGAGCGCTTGCGCAGCTCCATGTCAGAGAACCGCATGTCACG CCGGATTGTGCTGTCCAACATGAGGATGCAGTTCTCCTTTGAGGGGCCTGAGAAAGTGCACAGCTCCTACTTCGAGGGGAAGCAGGTCTC AGTGACTAACGACGGCTCCCAGCTGGGAGCCCTGGTGTCCCCTGAGTGTGGTGACCTCAGCGAGCCCACCACCCTCAAGTCTCCGGCCCC CTCCAGTGACTTTGCGGACGCCATCACCGAGCTGGAGGACGCCTTCTCTAGGCAAGTGAAATCACTGGCCGAGTCCATCGACGATGCCCT CAACTGCCGCAGCCTGCACACTGAGGAGGCACCGGCCCTGGATGCGGCGCGGGCCCGGGACACCGAACCCCAGACAGCCCTGCACGGCAT GGACCACCGCAAACTGGACGAGATGACGGCCTCGTACAGTGATGTCACCCTGTACATCGATGAGGAGGAGCTGTCGCCCCCTCTGCCCCT CTCGCAGGCAGGGGACCGGCCGTCCAGCACCGAGTCGGACCTGCGGCTACGGGCTGGGGGCGCAGCCCCAGACTACTGGGCCCTGGCCCA CAAAGAGGACAAGGCTGACACGGACACGAGCTGCCGGAGCACGCCGTCGCTGGAGCGGCAGGAGCAGCGGCTGCGGGTGGAGCATCTGCC GCTGCTCACCATCGAGCCACCCAGCGACAGCTCTGTGGACCTTAGTGACCGCTCGGAGCGGGGGTCACTCAAGAGGCAGAGTGCTTACGA GCGCAGCCTTGGCGGGCAGCAGGGCAGTCCCAAGCATGGTCCCCACAGCGGCGCCCCCAAGAGCCTCCCCCGGGAGGAGCCTGAGTTGCG GCCCCGGCCCCCCAGGCCCCTGGACAGCCACTTGGCCATCAATGGCTCAGCCAACCGGCAGAGCAAGTCTGAGTCGGACTACTCAGACGG TGACAATGACAGCATCAACAGCACGTCCAACTCCAACGATACCATCAACTGCAGCTCCGAGTCATCGTCCCGTGACAGCCTGCGGGAGCA GACGCTCAGCAAGCAGACCTACCACAAGGAGGCCCGCAACAGCTGGGACTCGCCTGCCTTTAGCAACGATGTCATCCGCAAGAGGCACTA CCGCATCGGCCTGAACCTCTTCAACAAGAAGCCTGAGAAGGGAGTCCAGTACCTCATCGAGCGTGGCTTTGTGCCCGACACGCCCGTCGG GGTGGCCCACTTCCTGCTGCAGCGCAAGGGCCTCAGCCGGCAGATGATCGGCGAGTTCCTGGGCAACCGGCAGAAGCAGTTCAACCGTGA CGTGCTCGACTGCGTCGTGGACGAGATGGACTTCTCTACCATGGAGCTGGATGAGGCCCTCAGGAAATTCCAGGCGCACATCCGTGTCCA AGGGGAGGCTCAGAAAGTGGAGCGGCTCATAGAGGCGTTCAGCCAGCGCTACTGCATCTGCAACCCTGGGGTGGTGCGGCAATTCCGGAA CCCAGACACCATTTTCATCCTGGCCTTCGCCATCATCCTGCTGAACACCGACATGTACAGCCCCAATGTCAAGCCCGAGCGGAAAATGAA GCTAGAGGACTTCATCAAGAACCTCCGAGGTGTGGACGATGGTGAGGACATTCCCCGTGAGATGCTGATGGGGATCTATGAACGGATCCG TAAGCGAGAGCTAAAGACCAATGAGGACCATGTGTCCCAGGTGCAGAAGGTGGAGAAGCTCATTGTGGGGAAAAAGCCGATCGGATCCCT GCATCCCGGGCTCGGCTGTGTGCTCTCTCTGCCCCACCGTCGGTTGGTCTGCTACTGCCGGCTCTTTGAGGTTCCAGACCCAAACAAGCC CCAGAAACTCGGACTACACCAGCGAGAAATCTTCCTGTTCAACGACCTCCTGGTGGTCACCAAGATCTTCCAGAAGAAGAAGAACTCGGT GACGTACAGCTTCCGACAGTCCTTCTCCTTGTACGGCATGCAGGTCCTGCTCTTCGAGAACCAGTACTACCCCAATGGCATCCGGCTCAC CTCGTCTGTCCCCGGAGCAGATATCAAAGTGTTAATAAACTTCAACGCCCCCAACCCTCAAGACCGGAAGAAATTCACCGATGACCTGCG GGAGTCCATTGCGGAAGTCCAAGAGATGGAGAAGCACAGGATAGAGTCGGAGCTCGAGAAGCAGAAAGGCGTCGTGCGGCCCAGCATGTC CCAGTGCTCTAGCCTCAAAAAGGAGTCGGGCAACGGAACACTGAGCCGGGCCTGCCTGGACGACAGCTATGCCAGCGGTGAGGGCCTCAA GCGCAGCGCCCTCAGCAGCTCCCTGCGGGACCTCTCGGAAGCCGGGAAGCGAGGGCGTCGCAGCAGTGCGGGATCGCTAGAGAGCAATGT GGAATTTCAGCCTTTCGAGCCACTGCAGCCGTCAGTGCTGTGCTCCTAAGCCATGGGACCCGAGGACTGCCCCCCGGCGCCTGCCCAGGC GGAGGCCCTTTCAGAAAGGGCGAAGCTCACGCCTGACTCTGCGGGCCGCGGGGCCGCGTTCCCAGTGGACAGCGTGGTGAGCCGTGGCCG GACGGCAGGAGGAGAGGGGAGCCCCCTCTGGCTGTGTGTCACCTTGGCTGGCTGGCTGGCCAGGGTTTTGCCGATTTCCCTCCTCACATC CCTCCCACCCTCGGTCATATCATTGAGATCACCGTACCAGCAAATCTGCAAACCAAGCACTTTGTTAATCTCCAGAGAGAGCAAATACAG CAATCTAGAGTTTAGCCTTTTTAAAAATGTGACTTTAACCCGCCCACCTGTGTCCTCCCATTGGCGTGGCATTTCTTTGGTGTCTGCTCA GAAAGAAACAGCATGGGACCGTGTGATTGGGTCCAGGCTGGGCTGTCAGGGAAGCGCCCTGGTGTCTCCGACTCATCAATTCTCGGGTCT TTTTTAAAAGCCAGGCTCCCCAAAGCACTCTGTCTCGCAATTTTGAGGAGGCTGTTCCGACCTGGAAGCGTTAAACTGCTGCATGTCATC TGGCGTCAGCTGTGAGGCTGCGCTCTGCGTGTTGTGCGTTTGCAAAATGTATTGGCGTGACTGTAAACACATCGTTGAAGTAAAGCGATT ACATATTGAGTATGTCAGCTTTTCTCACCCTCTTCTGTGCTGGGAGGAGAGTCTAACTGTAACCTTTAGGTTGTTCCAGAAAAGATTCAG GCCGTTTGGCACAGAATTGCTCTTTCTGAAGGGTAGCAGTAATGAATAGGAACAGACAGAAAACCCCAGGAGGGGCTTTCAGGAAACTCT CCCTCTCCATCGCCATCCTGCAAGCTCCACAGCCTCGGGCTGCCAGCCTGTGGCACTGTCCTCGGTGTGTCCTGGAGCTGTGCTGGGCAG CAGGGCCTCGCGTAAGGAACTGCTGGAACCCACTGAGCCCTTCCCGGGGTTTCCCGCCGCACTCAGTGTGTTCCTTCAGGCTAGTGAGGT TTCATTCTGTTTTATTTGCAAGCTTATCAAAAGTTTGTGGAAGATACATTGTTGGGTTCCAGAGGCTGGAGTCATGCTGCCCACATCTTG TTTGGGAAAGCAAAAGCTCCCAGTGAGCTGGTGTCCCCGTGTGTCTTTCATGGGACTGTCCCCTTTAGAGATCCCACCTGTCAGAGCCAC AGCTTCGGGGTCCTGTCATCACATCCCCTGGGAGGGGAGGCAGGAGGAGGCCGAGGGCCCCAGGATGTCTGCCTGGTCCCTTCTCACTGT GAGGACGCCCTTGGCACACCTTTCTCAAGTCACACAAATTACTGCAGTTACATACAGAATTGCTGACAGGAGCAGGAGACGCTGAGGGAA ACAGCTGGCAATGTGACAAAAGTCTTTTCTGGGACAACAATCAAATCATGTATTTGTATTTTTTTAAGTTTACCAATGAATTGTACAACA ATGTAAAAATAAAGTTCATCCTAATATGCTGTGCACATCTTGCTTAAAAATGTCTTCAGCACCCAGTGCAGTGATCTTTCCCTCACACAC TGCATGCAGCAGGAGCCTCTTGTTTTTCTTAATGAGCTGAAAAGACAGCAGATGTTCACAGCTGATGCTGGGTGTTGACTCAGCGCCACG GGAAGCTCTGTGCCCGCAGGTAAGCACGCACAGTCTTACAGTTCTCCTTGTAAAATATCATCACCCTTCCTGCCTGAGAAACGAGTACAT TTGTATTTTATGTAACAACAATAGTCAAGGCAGCATTGCAACACTGAGCAGGGTGAGGTGGGGGTGCTGAGCACAGGACAAGAGGGAGGA GGCCTGCCCTCCATTCAGATGCATCTGCATCGCCCTTCTGTGTGCAGTCACATCGAGACTGCACACAGCATGCATCTCCTCTTGGAAAAT ATCTTTTGCCTCCGAGTTGTTTTAAGCAATTAGAATCAGGTCCTGAATCCCCAGACTGTTCAGAGACTTCAAGGGACACCTCCCTCACAA GAAGCCTGGCACCCCCACTGTGTACCTTTGAGAGGAAAGGAGTGCGTTTGTTTTCATCTGCATTCTGTTTGTCAGTGGCAACAGACTCTA |
Top |
FusionGenePPI for IQSEC1_UCHL1 |
| 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 |
| - 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 IQSEC1_UCHL1 |
| 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 |
Top |
RelatedDiseases for IQSEC1_UCHL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | UCHL1 | C3150899 | PARKINSON DISEASE 5, AUTOSOMAL DOMINANT | 4 | CTD_human;UNIPROT |
| Tgene | UCHL1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | UCHL1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | UCHL1 | C0016978 | gallbladder neoplasm | 1 | CTD_human |
| Tgene | UCHL1 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Tgene | UCHL1 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Tgene | UCHL1 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | UCHL1 | C3809665 | NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|