|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 27104 |
FusionGeneSummary for PICK1_CTSB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PICK1_CTSB | Fusion gene ID: 27104 | Hgene | Tgene | Gene symbol | PICK1 | CTSB | Gene ID | 9463 | 1508 |
| Gene name | protein interacting with PRKCA 1 | cathepsin B | |
| Synonyms | PICK|PRKCABP | APPS|CPSB | |
| Cytomap | 22q13.1 | 8p23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | PRKCA-binding proteinprotein interacting with C kinase 1protein kinase C-alpha-binding protein | cathepsin BAPP secretaseamyloid precursor protein secretasecathepsin B1cysteine protease | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NRD5 | P07858 | |
| Ensembl transtripts involved in fusion gene | ENST00000404072, ENST00000468288, ENST00000356976, | ENST00000434271, ENST00000353047, ENST00000530640, ENST00000531089, ENST00000453527, ENST00000415599, ENST00000345125, ENST00000533455, ENST00000534510, ENST00000525076, | |
| Fusion gene scores | * DoF score | 8 X 8 X 7=448 | 8 X 8 X 2=128 |
| # samples | 8 | 9 | |
| ** MAII score | log2(8/448*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/128*10)=-0.508146903670325 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PICK1 [Title/Abstract] AND CTSB [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 | PICK1 | GO:0007205 | protein kinase C-activating G-protein coupled receptor signaling pathway | 10623590 |
| Hgene | PICK1 | GO:0015844 | monoamine transport | 11343649 |
| Tgene | CTSB | GO:0006508 | proteolysis | 7890620|8811434 |
| Tgene | CTSB | GO:0030574 | collagen catabolic process | 22952693 |
| Tgene | CTSB | GO:0051603 | proteolysis involved in cellular protein catabolic process | 22952693 |
| 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 | THCA | TCGA-MK-A84Z-01A | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| * 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-3UTR | ENST00000404072 | ENST00000434271 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-3UTR | ENST00000404072 | ENST00000353047 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000404072 | ENST00000530640 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000404072 | ENST00000531089 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000404072 | ENST00000453527 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000404072 | ENST00000415599 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000404072 | ENST00000345125 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000404072 | ENST00000533455 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000404072 | ENST00000534510 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000404072 | ENST00000525076 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-3UTR | ENST00000468288 | ENST00000434271 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-3UTR | ENST00000468288 | ENST00000353047 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000468288 | ENST00000530640 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000468288 | ENST00000531089 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000468288 | ENST00000453527 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000468288 | ENST00000415599 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000468288 | ENST00000345125 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000468288 | ENST00000533455 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000468288 | ENST00000534510 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000468288 | ENST00000525076 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-3UTR | ENST00000356976 | ENST00000434271 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-3UTR | ENST00000356976 | ENST00000353047 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000356976 | ENST00000530640 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000356976 | ENST00000531089 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000356976 | ENST00000453527 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000356976 | ENST00000415599 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000356976 | ENST00000345125 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000356976 | ENST00000533455 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000356976 | ENST00000534510 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
| intron-intron | ENST00000356976 | ENST00000525076 | PICK1 | chr22 | 38463555 | + | CTSB | chr8 | 11701063 | - |
Top |
FusionProtFeatures for PICK1_CTSB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PICK1 | CTSB |
| Probable adapter protein that bind to and organize thesubcellular localization of a variety of membrane proteinscontaining some PDZ recognition sequence. Involved in theclustering of various receptors, possibly by acting at thereceptor internalization level. Plays a role in synapticplasticity by regulating the trafficking and internalization ofAMPA receptors. May be regulated upon PRKCA activation. Mayregulate ASIC1/ASIC3 channel. Regulates actin polymerization byinhibiting the actin-nucleating activity of the Arp2/3 complex;the function is competetive with nucleation promoting factors andis linked to neuronal morphology regulation and AMPA receptor(AMPAR) endocytosis. Via interaction with the Arp2/3 complexinvolved in regulation of synaptic plasicity of excitatorysynapses and required for spine shrinkage during long-termdepression (LTD). Involved in regulation of astrocyte morphology,antagonistic to Arp2/3 complex activator WASL/N-WASP function.{ECO:0000269|PubMed:20403402}. | Thiol protease which is believed to participate inintracellular degradation and turnover of proteins. Has also beenimplicated in tumor invasion and metastasis. |
| 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 PICK1_CTSB |
| 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). |
Top |
FusionGenePPI for PICK1_CTSB |
| 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 |
| PICK1 | GRIK2, GRIK1, ASIC1, GRM7, PRKCA, PRLHR, ERBB2, ERBB2IP, GRIA4, GRIA2, GRIA3, GRIA1, GRM3, BNC1, SLC6A3, PARK2, UBQLN4, APTX, ATXN1L, ATXN3, ATXN7, ATXN7L3, CIC, COIL, FXN, GFI1, GFI1B, PRKCG, SACS, USP7, KLHL24, EHD2, GPR37, BIN3, MAGEA1, ATP6AP2, RASSF7, FHOD1, EPHA7, UACA, ZNF24, ICA1L, ICA1, KLHL11, CEP89, FAM117A, GNPTAB, ITGA6, F11R, QSOX2, ARFIP1, AAED1, EFNB1, PKD2, NDRG3, ATP6AP1, NFS1, GPATCH2, ATP11A, AMIGO1, PVRL2, EFNB2, DSE, UGCG, AKT1, TCP10L, DPEP1, LDB1, ILVBL | CTSB | CSTA, CSTB, CST3, BAG6, S100A10, ANXA2, UBQLN4, USP29, DMWD, FAM118B, SPRY2, CDKN1A, RGS2, ANXA7, SH3KBP1, APP, PROCR, PARP1, MLH1, METTL21B, HNRNPD, XRN1, HIPK4, CDK18, FBXO6, IRS4, UNK, MSI2, HSPB2, STK11, CEP164, FBF1, RPGRIP1L, SCLT1, CDH1, PTPN18, NR3C1, TRIM25 |
| - 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 PICK1_CTSB |
| 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 PICK1_CTSB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PICK1 | C0036341 | Schizophrenia | 4 | PSYGENET |
| Hgene | PICK1 | C0033941 | Psychoses, Substance-Induced | 1 | CTD_human |
| Hgene | PICK1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | PICK1 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| Hgene | PICK1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Tgene | CTSB | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| Tgene | CTSB | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | CTSB | C0017636 | Glioblastoma | 1 | CTD_human |
| Tgene | CTSB | C0026848 | Myopathy | 1 | CTD_human |
| Tgene | CTSB | C0027540 | Necrosis | 1 | CTD_human |
| Tgene | CTSB | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | CTSB | C0033687 | Proteinuria | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|