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Fusion gene ID: 28392 |
FusionGeneSummary for PPP1R9B_COL1A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP1R9B_COL1A1 | Fusion gene ID: 28392 | Hgene | Tgene | Gene symbol | PPP1R9B | COL1A1 | Gene ID | 84687 | 1277 |
| Gene name | protein phosphatase 1 regulatory subunit 9B | collagen type I alpha 1 chain | |
| Synonyms | PPP1R6|PPP1R9|SPINO|Spn | EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | |
| Cytomap | 17q21.33 | 17q21.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neurabin-2neurabin-IIprotein phosphatase 1, regulatory (inhibitor) subunit 9Bprotein phosphatase 1, regulatory subunit 9B, spinophilin | collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q96SB3 | P02452 | |
| Ensembl transtripts involved in fusion gene | ENST00000316878, ENST00000501501, | ENST00000225964, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 25 X 35 X 6=5250 |
| # samples | 2 | 39 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(39/5250*10)=-3.75077139369124 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PPP1R9B [Title/Abstract] AND COL1A1 [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 | PPP1R9B | GO:0030308 | negative regulation of cell growth | 11278317 |
| Tgene | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
| Tgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
| Tgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
| Tgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
| Tgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
| 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 | HNSC | TCGA-CN-4726-01A | PPP1R9B | chr17 | 48226508 | - | COL1A1 | chr17 | 48270211 | - |
| * 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 |
| In-frame | ENST00000316878 | ENST00000225964 | PPP1R9B | chr17 | 48226508 | - | COL1A1 | chr17 | 48270211 | - |
| 5UTR-3CDS | ENST00000501501 | ENST00000225964 | PPP1R9B | chr17 | 48226508 | - | COL1A1 | chr17 | 48270211 | - |
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FusionProtFeatures for PPP1R9B_COL1A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP1R9B | COL1A1 |
| Seems to act as a scaffold protein in multiple signalingpathways. Modulates excitatory synaptic transmission and dendriticspine morphology. Binds to actin filaments (F-actin) and showscross-linking activity. Binds along the sides of the F-actin. Mayplay an important role in linking the actin cytoskeleton to theplasma membrane at the synaptic junction. Believed to targetprotein phosphatase 1/PP1 to dendritic spines, which are rich inF-actin, and regulates its specificity toward ion channels andother substrates, such as AMPA-type and NMDA-type glutamatereceptors. Plays a role in regulation of G-protein coupledreceptor signaling, including dopamine D2 receptors and alpha-adrenergic receptors. May establish a signaling complex fordopaminergic neurotransmission through D2 receptors by linkingreceptors downstream signaling molecules and the actincytoskeleton. Binds to ADRA1B and RGS2 and mediates regulation ofADRA1B signaling. May confer to Rac signaling specificity bybinding to both, RacGEFs and Rac effector proteins. Probablyregulates p70 S6 kinase activity by forming a complex with TIAM1(By similarity). Required for hepatocyte growth factor (HGF)-induced cell migration. {ECO:0000250,ECO:0000269|PubMed:19151759}. |
| 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 |
| Hgene | PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 251_259 | 455 | 816 | Compositional bias | Note=Poly-Pro |
| Hgene | PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 445_449 | 455 | 816 | Motif | PP1-binding motif |
| Hgene | PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 163_281 | 455 | 816 | Region | Actin-binding |
| Hgene | PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 1_154 | 455 | 816 | Region | Actin-binding |
| Tgene | >COL1A1 | chr17:48226508 | chr17:48270211 | ENST00000225964 | - | 25 | 51 | 1229_1464 | 607 | 1465 | Domain | Fibrillar collagen NC1 |
| Tgene | >COL1A1 | chr17:48226508 | chr17:48270211 | ENST00000225964 | - | 25 | 51 | 1093_1095 | 607 | 1465 | Motif | Cell attachment site |
| Tgene | >COL1A1 | chr17:48226508 | chr17:48270211 | ENST00000225964 | - | 25 | 51 | 745_747 | 607 | 1465 | Motif | Cell attachment site |
| Tgene | >COL1A1 | chr17:48226508 | chr17:48270211 | ENST00000225964 | - | 25 | 51 | 1193_1218 | 607 | 1465 | Region | Note=Nonhelical region (C-terminal) |
| - 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 |
| Hgene | >PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 593_614 | 455 | 816 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 663_814 | 455 | 816 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 494_582 | 455 | 816 | Domain | PDZ |
| Tgene | COL1A1 | chr17:48226508 | chr17:48270211 | ENST00000225964 | - | 25 | 51 | 38_96 | 607 | 1465 | Domain | VWFC |
| Tgene | COL1A1 | chr17:48226508 | chr17:48270211 | ENST00000225964 | - | 25 | 51 | 162_178 | 607 | 1465 | Region | Note=Nonhelical region (N-terminal) |
| Tgene | COL1A1 | chr17:48226508 | chr17:48270211 | ENST00000225964 | - | 25 | 51 | 179_1192 | 607 | 1465 | Region | Note=Triple-helical region |
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FusionGeneSequence for PPP1R9B_COL1A1 |
| 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). |
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FusionGenePPI for PPP1R9B_COL1A1 |
| 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 |
| PPP1R9B | CDKN2A, TIAM1, PPP1R2, PPP1CA, PPP1CB, PPP1CC, DRD2, RASGRF1, ADRA2C, ADRA2B, ADRA2A, ACTA1, USP46, WDR48, DCX, SHC1, BRCA1, ANKRD28, SUZ12, RNF2, CASQ2, PPP1R3A, MED23, PCM1, CAPZA2, DBN1, FLNA, MYH9, IQGAP1, SYNPO, LIMA1, MYO19, POP4, PDHA1, TRIM25 | COL1A1 | IGFBP3, TXN, ITGA2, ITGB1, NID1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Hgene | PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 167_253 | 455 | 816 | ADRA2A%2C ADRA2B and ADRA2C |
| Hgene | PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 100_369 | 455 | 816 | D(2) dopamine receptor |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Hgene | PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 415_492 | 455 | 816 | protein phosphatase 1 |
| Hgene | PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 478_523 | 455 | 816 | RGS2 |
| Hgene | PPP1R9B | chr17:48226508 | chr17:48270211 | ENST00000316878 | - | 3 | 12 | 593_814 | 455 | 816 | TGN38 |
| - 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 PPP1R9B_COL1A1 |
| 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 |
| Tgene | COL1A1 | P02452 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(I) chain | biotech | approved|investigational |
| Tgene | COL1A1 | P02452 | DB13133 | Von Willebrand Factor Human | Collagen alpha-1(I) chain | biotech | approved|investigational |
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RelatedDiseases for PPP1R9B_COL1A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PPP1R9B | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | PPP1R9B | C0037199 | Sinusitis | 1 | CTD_human |
| Tgene | COL1A1 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 39 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL1A1 | C0268362 | Osteogenesis imperfecta type III (disorder) | 18 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL1A1 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 14 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL1A1 | C0023931 | Lobstein's Disease | 12 | ORPHANET;UNIPROT |
| Tgene | COL1A1 | C0023890 | Liver Cirrhosis | 4 | CTD_human |
| Tgene | COL1A1 | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
| Tgene | COL1A1 | C4225429 | Ehlers-Danlos syndrome classic type | 2 | UNIPROT |
| Tgene | COL1A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | COL1A1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
| Tgene | COL1A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| Tgene | COL1A1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Tgene | COL1A1 | C0006663 | Calcinosis | 1 | CTD_human |
| Tgene | COL1A1 | C0008311 | Cholangitis | 1 | CTD_human |
| Tgene | COL1A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | COL1A1 | C0018824 | Heart valve disease | 1 | CTD_human |
| Tgene | COL1A1 | C0020497 | Cortical Congenital Hyperostosis | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL1A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | COL1A1 | C0022548 | Keloid | 1 | CTD_human |
| Tgene | COL1A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| Tgene | COL1A1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
| Tgene | COL1A1 | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human |
| Tgene | COL1A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Tgene | COL1A1 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |
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