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Fusion gene ID: 41306 |
FusionGeneSummary for UVRAG_SERPINH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UVRAG_SERPINH1 | Fusion gene ID: 41306 | Hgene | Tgene | Gene symbol | UVRAG | SERPINH1 | Gene ID | 7405 | 871 |
| Gene name | UV radiation resistance associated | serpin family H member 1 | |
| Synonyms | DHTX|VPS38|p63 | AsTP3|CBP1|CBP2|HSP47|OI10|PIG14|PPROM|RA-A47|SERPINH2|gp46 | |
| Cytomap | 11q13.5 | 11q13.5 | |
| Type of gene | protein-coding | protein-coding | |
| Description | UV radiation resistance-associated gene proteinbeclin 1 binding proteindisrupted in heterotaxy | serpin H147 kDa heat shock proteinarsenic-transactivated protein 3cell proliferation-inducing gene 14 proteincollagen binding protein 1colligin-1colligin-2rheumatoid arthritis antigen A-47rheumatoid arthritis-related antigen RA-A47serine (or cyst | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9P2Y5 | P50454 | |
| Ensembl transtripts involved in fusion gene | ENST00000356136, ENST00000528420, ENST00000533454, ENST00000531818, ENST00000532130, ENST00000539288, ENST00000525872, ENST00000538870, | ENST00000533603, ENST00000358171, ENST00000530284, ENST00000524558, ENST00000525876, | |
| Fusion gene scores | * DoF score | 29 X 10 X 12=3480 | 4 X 3 X 3=36 |
| # samples | 29 | 4 | |
| ** MAII score | log2(29/3480*10)=-3.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: UVRAG [Title/Abstract] AND SERPINH1 [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 | UVRAG | GO:0071900 | regulation of protein serine/threonine kinase activity | 22542840 |
| Hgene | UVRAG | GO:0097680 | double-strand break repair via classical nonhomologous end joining | 22542840 |
| 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 | OV | TCGA-13-A5FT-01A | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| * 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 |
| 5CDS-5UTR | ENST00000356136 | ENST00000533603 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 5CDS-5UTR | ENST00000356136 | ENST00000358171 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 5CDS-5UTR | ENST00000356136 | ENST00000530284 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 5CDS-5UTR | ENST00000356136 | ENST00000524558 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 5CDS-intron | ENST00000356136 | ENST00000525876 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 5CDS-5UTR | ENST00000528420 | ENST00000533603 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 5CDS-5UTR | ENST00000528420 | ENST00000358171 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 5CDS-5UTR | ENST00000528420 | ENST00000530284 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 5CDS-5UTR | ENST00000528420 | ENST00000524558 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 5CDS-intron | ENST00000528420 | ENST00000525876 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000533454 | ENST00000533603 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000533454 | ENST00000358171 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000533454 | ENST00000530284 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000533454 | ENST00000524558 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-intron | ENST00000533454 | ENST00000525876 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000531818 | ENST00000533603 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000531818 | ENST00000358171 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000531818 | ENST00000530284 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000531818 | ENST00000524558 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-intron | ENST00000531818 | ENST00000525876 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000532130 | ENST00000533603 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000532130 | ENST00000358171 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000532130 | ENST00000530284 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000532130 | ENST00000524558 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-intron | ENST00000532130 | ENST00000525876 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000539288 | ENST00000533603 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000539288 | ENST00000358171 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000539288 | ENST00000530284 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000539288 | ENST00000524558 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-intron | ENST00000539288 | ENST00000525876 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 3UTR-5UTR | ENST00000525872 | ENST00000533603 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 3UTR-5UTR | ENST00000525872 | ENST00000358171 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 3UTR-5UTR | ENST00000525872 | ENST00000530284 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 3UTR-5UTR | ENST00000525872 | ENST00000524558 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| 3UTR-intron | ENST00000525872 | ENST00000525876 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000538870 | ENST00000533603 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000538870 | ENST00000358171 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000538870 | ENST00000530284 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-5UTR | ENST00000538870 | ENST00000524558 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
| intron-intron | ENST00000538870 | ENST00000525876 | UVRAG | chr11 | 75623083 | + | SERPINH1 | chr11 | 75277361 | + |
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FusionProtFeatures for UVRAG_SERPINH1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UVRAG | SERPINH1 |
| Versatile protein that is involved in regulation ofdifferent cellular pathways implicated in membrane trafficking.Involved in regulation of the COPI-dependent retrograde transportfrom Golgi and the endoplasmic reticulum by associating with theNRZ complex; the function is dependent on its binding tophosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:24056303).During autophagy acts as regulatory subunit of the alternativePI3K complex II (PI3KC3-C2) that mediates formation ofphosphatidylinositol 3-phosphate and is believed to be involved inmaturation of autophagosomes and endocytosis. Activates lipidkinase activity of PIK3C3. Involved in the regulation ofdegradative endocytic trafficking and cytokinesis, and inregulation of ATG9A transport from the Golgi to the autophagosome;the functions seems to implicate its association with PI3KC3-C2(PubMed:16799551, PubMed:20643123, PubMed:24056303). Involved inmaturation of autophagosomes and degradative endocytic traffickingindependently of BECN1 but depending on its association with aclass C Vps complex (possibly the HOPS complex); the associationis also proposed to promote autophagosome recruitment andactivation of Rab7 and endosome-endosome fusion events(PubMed:18552835). Enhances class C Vps complex (possibly HOPScomplex) association with a SNARE complex and promotes fusogenicSNARE complex formation during late endocytic membrane fusion(PubMed:24550300). In case of negative-strand RNA virus infectionis required for efficient virus entry, promotes endocytictransport of virions and is implicated in a VAMP8-specificfusogenic SNARE complex assembly (PubMed:24550300).{ECO:0000269|PubMed:18552835, ECO:0000269|PubMed:20643123,ECO:0000269|PubMed:24056303, ECO:0000305}. Involved in maintaining chromosomal stability. PromotesDNA double-strand break (DSB) repair by association with DNA-dependent protein kinase complex DNA-PK and activating it in non-homologous end joining (NHEJ) (PubMed:22542840). Required forcentrosome stability and proper chromosome segregation(PubMed:22542840). {ECO:0000269|PubMed:22542840}. | Binds specifically to collagen. Could be involved as achaperone in the biosynthetic pathway of collagen. |
| 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 |
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FusionGeneSequence for UVRAG_SERPINH1 |
| 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 UVRAG_SERPINH1 |
| 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 |
| UVRAG | BECN1, PIK3C3, VPS33A, VPS18, PIK3R4, PTPRA, KIAA0226, TGFBRAP1, VPS16, VPS11, VPS33B, VPS39, YWHAE, RALB, USP18, XPO1, MYO1C, DDB1, DDB2, CUL4A, RBX1, KIAA0226L | SERPINH1 | UBQLN4, KLF13, SLC35F6, CD9, TP53, HIST1H1B, BRCA2, ESR2, PPARG, ZEB1, RCOR1, HDAC2, CTBP1, FEZ1, HMP19, CEP70, BAG6, ELAVL1, SIRT7, SLC2A4, SH3KBP1, TCF3, CDK2, FBXO6, UBL4A, STX7, TBL2, SUGP1, YTHDF1, TMED9, STAM, TIMM44, PDIA6, MPLKIP, NABP2, TPX2, HSPA5, SEC22B, P4HB, ZC3H11A, TPM4, UBE2B, HNRNPH2, SEC24C, TRIP6, VDAC3, PSMA2, SEC23A, CRK, AHCYL1, MDH2, LANCL1, TOM1L2, HNRNPA1L2, TOMM40, ZFR, AGMAT, ESR1, OS9, MYC, ATF2, IQCB1, METTL23, ADRB2, ATXN10, VIM, AARSD1, STAU1, CUL7, OBSL1, CCDC8, FAF2, LGALS3, CFL1, BAX, DAZAP1, HNRNPA2B1, LGALS1, SPR, NTRK1, MED20, TCTN1, MCM2, POU5F1, ATOH1, CYLD, COX15, DLD, DLST, HSD17B10, PDHA1, SDHA, SOD1, VDAC1, EDEM3, BRCA1 |
| - 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 |
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RelatedDrugs for UVRAG_SERPINH1 |
| 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 |
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RelatedDiseases for UVRAG_SERPINH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SERPINH1 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| Tgene | SERPINH1 | C0022116 | Ischemia | 1 | CTD_human |
| Tgene | SERPINH1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | SERPINH1 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Tgene | SERPINH1 | C0740392 | Infarction, Middle Cerebral Artery | 1 | CTD_human |
| Tgene | SERPINH1 | C3151211 | OSTEOGENESIS IMPERFECTA, TYPE X | 1 | UNIPROT |
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