|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 28325 |
FusionGeneSummary for PPP1R13B_C14orf2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP1R13B_C14orf2 | Fusion gene ID: 28325 | Hgene | Tgene | Gene symbol | PPP1R13B | C14orf2 | Gene ID | 23368 |
| Gene name | protein phosphatase 1 regulatory subunit 13B | ||
| Synonyms | ASPP1|p53BP2-like|p85 | ||
| Cytomap | 14q32.33 | ||
| Type of gene | protein-coding | ||
| Description | apoptosis-stimulating of p53 protein 1apoptosis-stimulating protein of p53, 1protein phosphatase 1, regulatory (inhibitor) subunit 13B | ||
| Modification date | 20180523 | ||
| UniProtAcc | Q96KQ4 | ||
| Ensembl transtripts involved in fusion gene | ENST00000202556, ENST00000423488, ENST00000555391, | ENST00000286953, ENST00000554880, ENST00000555030, ENST00000414262, ENST00000553430, ENST00000557040, ENST00000553449, ENST00000554713, | |
| Fusion gene scores | * DoF score | 8 X 3 X 6=144 | 3 X 2 X 3=18 |
| # samples | 9 | 4 | |
| ** MAII score | log2(9/144*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PPP1R13B [Title/Abstract] AND C14orf2 [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 | PPP1R13B | GO:0072332 | intrinsic apoptotic signaling pathway by p53 class mediator | 11684014 |
| 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 | RV | BRCA | TCGA-D8-A1JM-01A | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| TCGA | RV | UCEC | TCGA-B5-A3S1-01A | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| * 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 | ENST00000202556 | ENST00000286953 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| In-frame | ENST00000202556 | ENST00000554880 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| In-frame | ENST00000202556 | ENST00000555030 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| In-frame | ENST00000202556 | ENST00000414262 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| In-frame | ENST00000202556 | ENST00000553430 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| In-frame | ENST00000202556 | ENST00000557040 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| 5CDS-intron | ENST00000202556 | ENST00000553449 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| 5CDS-intron | ENST00000202556 | ENST00000554713 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000423488 | ENST00000286953 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000423488 | ENST00000554880 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000423488 | ENST00000555030 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000423488 | ENST00000414262 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000423488 | ENST00000553430 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000423488 | ENST00000557040 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-intron | ENST00000423488 | ENST00000553449 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-intron | ENST00000423488 | ENST00000554713 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000555391 | ENST00000286953 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000555391 | ENST00000554880 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000555391 | ENST00000555030 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000555391 | ENST00000414262 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000555391 | ENST00000553430 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-3CDS | ENST00000555391 | ENST00000557040 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-intron | ENST00000555391 | ENST00000553449 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
| intron-intron | ENST00000555391 | ENST00000554713 | PPP1R13B | chr14 | 104313636 | - | C14orf2 | chr14 | 104381526 | - |
Top |
FusionProtFeatures for PPP1R13B_C14orf2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP1R13B | C14orf2 |
| Regulator that plays a central role in regulation ofapoptosis via its interaction with p53/TP53. Regulates TP53 byenhancing the DNA binding and transactivation function of TP53 onthe promoters of proapoptotic genes in vivo.{ECO:0000269|PubMed:11684014}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 |
| Tgene | >C14orf2 | chr14:104313636 | chr14:104381526 | ENST00000286953 | - | 0 | 4 | 20_38 | 0 | 59 | Transmembrane | Helical |
| Tgene | >C14orf2 | chr14:104313636 | chr14:104381526 | ENST00000414262 | - | 1 | 5 | 20_38 | 17 | 76 | Transmembrane | Helical |
| Tgene | >C14orf2 | chr14:104313636 | chr14:104381526 | ENST00000553430 | - | 0 | 3 | 20_38 | 0 | 78 | Transmembrane | Helical |
| Tgene | >C14orf2 | chr14:104313636 | chr14:104381526 | ENST00000554880 | - | 0 | 4 | 20_38 | 0 | 59 | Transmembrane | Helical |
| Tgene | >C14orf2 | chr14:104313636 | chr14:104381526 | ENST00000557040 | - | 1 | 5 | 20_38 | 0 | 59 | Transmembrane | Helical |
| - 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 | >PPP1R13B | chr14:104313636 | chr14:104381526 | ENST00000202556 | - | 1 | 17 | 132_292 | 3 | 1091 | Compositional bias | Note=Gln-rich |
| Hgene | >PPP1R13B | chr14:104313636 | chr14:104381526 | ENST00000202556 | - | 1 | 17 | 428_860 | 3 | 1091 | Compositional bias | Note=Pro-rich |
| Hgene | >PPP1R13B | chr14:104313636 | chr14:104381526 | ENST00000202556 | - | 1 | 17 | 1019_1081 | 3 | 1091 | Domain | SH3 |
| Hgene | >PPP1R13B | chr14:104313636 | chr14:104381526 | ENST00000202556 | - | 1 | 17 | 920_952 | 3 | 1091 | Repeat | Note=ANK 1 |
| Hgene | >PPP1R13B | chr14:104313636 | chr14:104381526 | ENST00000202556 | - | 1 | 17 | 953_985 | 3 | 1091 | Repeat | Note=ANK 2 |
Top |
FusionGeneSequence for PPP1R13B_C14orf2 |
| 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 PPP1R13B_C14orf2 |
| 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 |
| PPP1R13B | PLEKHA5, APC, CDC5L, CEP63, TNIK, ERBB2, PPP1CA, KHDRBS1, LATS1, LATS2, HRAS, PPP1CC, SIAH2, TRAF1, MIPOL1, CCDC184, MOV10, EP300, TP53, BRCA1, SRGAP3, RASSF8, RASSF7, GSTM3, CCDC85B, CCDC85C, CPVL, PPP1CB, PPP1R10, PPP3CB, RASSF9, PPP1R3A, RASSF10, STAM2, SSX2IP, CEP128, NINL, KHDRBS3, CDH1, SSSCA1, TRIM25 | C14orf2 | SPACA1, UNK |
| - 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 PPP1R13B_C14orf2 |
| 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 PPP1R13B_C14orf2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|