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Fusion gene ID: 33282 |
FusionGeneSummary for SERPINA1_LGR4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SERPINA1_LGR4 | Fusion gene ID: 33282 | Hgene | Tgene | Gene symbol | SERPINA1 | LGR4 | Gene ID | 5265 | 55366 |
| Gene name | serpin family A member 1 | leucine rich repeat containing G protein-coupled receptor 4 | |
| Synonyms | A1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIF | BNMD17|GPR48 | |
| Cytomap | 14q32.13 | 11p14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alpha-1-antitrypsinalpha-1 antitrypsinalpha-1 protease inhibitoralpha-1-antiproteinasealpha-1-antitrypsin nullalpha-1-antitrypsin short transcript variant 1C4alpha-1-antitrypsin short transcript variant 1C5protease inhibitor 1 (anti-elastase), alph | leucine-rich repeat-containing G-protein coupled receptor 4G protein-coupled receptor 48 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P01009 | Q9BXB1 | |
| Ensembl transtripts involved in fusion gene | ENST00000440909, ENST00000448921, ENST00000437397, ENST00000355814, ENST00000393087, ENST00000393088, ENST00000404814, ENST00000449399, ENST00000402629, ENST00000555289, | ENST00000379214, ENST00000389858, ENST00000480977, | |
| Fusion gene scores | * DoF score | 21 X 14 X 3=882 | 4 X 4 X 3=48 |
| # samples | 31 | 4 | |
| ** MAII score | log2(31/882*10)=-1.50851044028328 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SERPINA1 [Title/Abstract] AND LGR4 [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 | LGR4 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 22815884 |
| 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 | LIHC | TCGA-ED-A66Y-01A | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| * 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-intron | ENST00000440909 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000440909 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000440909 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000448921 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000448921 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000448921 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000437397 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000437397 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000437397 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000355814 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000355814 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000355814 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000393087 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000393087 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000393087 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000393088 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000393088 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000393088 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| 5CDS-intron | ENST00000404814 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| 5CDS-intron | ENST00000404814 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| 5CDS-intron | ENST00000404814 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000449399 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000449399 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000449399 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000402629 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000402629 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000402629 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000555289 | ENST00000379214 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000555289 | ENST00000389858 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
| intron-intron | ENST00000555289 | ENST00000480977 | SERPINA1 | chr14 | 94844726 | - | LGR4 | chr11 | 27494322 | - |
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FusionProtFeatures for SERPINA1_LGR4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SERPINA1 | LGR4 |
| Receptor for R-spondins that potentiates the canonicalWnt signaling pathway and is involved in the formation of variousorgans. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4),associates with phosphorylated LRP6 and frizzled receptors thatare activated by extracellular Wnt receptors, triggering thecanonical Wnt signaling pathway to increase expression of targetgenes. In contrast to classical G-protein coupled receptors, doesnot activate heterotrimeric G-proteins to transduce the signal.Its function as activator of the Wnt signaling pathway is requiredfor the development of various organs, including liver, kidney,intestine, bone, reproductive tract and eye. May also act as areceptor for norrin (NDP), such results however require additionalconfirmation in vivo. Required during spermatogenesis to activatethe Wnt signaling pathway in peritubular myoid cells. Required forthe maintenance of intestinal stem cells and Paneth celldifferentiation in postnatal intestinal crypts. Acts as aregulator of bone formation and remodeling. Involved in kidneydevelopment; required for maintaining the ureteric bud in anundifferentiated state. Involved in the development of theanterior segment of the eye. Required during erythropoiesis. Alsoacts as a negative regulator of innate immunity by inhibitingTLR2/TLR4 associated pattern-recognition and proinflammatorycytokine production. Plays an important role in regulating thecircadian rhythms of plasma lipids, partially through regulatingthe rhythmic expression of MTTP (By similarity).{ECO:0000250|UniProtKB:A2ARI4, ECO:0000269|PubMed:21693646,ECO:0000269|PubMed:21727895, ECO:0000269|PubMed:21909076,ECO:0000269|PubMed:22815884, ECO:0000269|PubMed:23444378,ECO:0000269|PubMed:23756652}. |
| 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 SERPINA1_LGR4 |
| 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 SERPINA1_LGR4 |
| 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 |
| SERPINA1 | KLK3, ELANE, PRTN3, MIS12, RAP2A, DERL2, DERL1, VCP, OS9, ERLEC1, VKORC1, SSR1, CANX, FN1, ATP5C1, GSDMB, SMAD4, ECHS1, SDC2, RCHY1, LAMTOR5, CA8, GDPD1, DDX19B, ZNF558, ICE2, ALDH2, PLK2, HSPA5, FBXO2, SYVN1, SQSTM1, DDX31, MAPK6, SNX27, GOT1L1, HSPA8, UPF3A | LGR4 | ZNRF3, RSPO1, RSPO2, RSPO3, RSPO4, LRP6, IQGAP1, CLTC, DHX9, EIF4G3, POLR1A, TBC1D17, SNRNP200, ARHGEF40, CPSF1, FASN, CHD4, POTEJ, EEF1A1, SLC16A1, MAP4, SCAF11, RRBP1, FBLL1, KHSRP, LRRFIP1, NUMA1, LSM14B, MYCBP2, ILF3, PRRC2C, GCN1L1, ZNF638, EIF5B, NEXN, THOC2, CAD, DDX21, MYH9, UBC, NPC1, LGR4, CLTCL1, PRKDC, SKIV2L, ATAD3A, KIDINS220, DCTN1, POTEF, SLC1A5, SMCHD1, KMT2A, NUP205, MYBBP1A, ZC3H18, RPL5, THRAP3, TPTE2, GEMIN5, ACTG1, CREB5, KRT2, ATP4A, TPR, AGL, ATP2B1, POLH, MATR3, CANX, RGPD4, ACIN1, PELP1, ASCC3, TCOF1, EEF2, SCRIB, SRRT, TBL3, TRIM40, MYH11, PKHD1, ATP1A1, PIK3C2A, ABAT, GPATCH1, USP54, DNAJC13, EIF4G1, HSPD1, PIGG, PDHX, HSPA2, SURF4, PTPN23, PRPF8, ATP2A2, ATP2B2, GAK, DDX3X, GOLGA3, CDC42BPA, NUP210, EPRS, SAFB, ZFC3H1, IQGAP3, KRT77, LRPPRC, DSCAM, CNOT1, KRT79, CHD3, FKBP15, RRP12, MYH14, TUBB, TUBA1B, LAMC1, NISCH, SLC7A5, CPD, TFRC, TPTE, DDX17, SMC4, KRT5, AQR, KRT75, MLLT4, PRRC2A, KRT9, ATP1A2, EIF3A, IRS4, SLC25A3, POLR2A, PRSS1, PTBP1, RPN1, EDC4, SLC25A5, HNRNPK, TUBA3E, NCAPD3, CALR, NDUFA10, ATP2B3, HS3ST1, HDLBP, ATP1A3, CDC42BPB, IMMT, SF3B1, DOCK7, RPF2, HLA-DPB1, KHDRBS1, VWA8, PEA15, SF3B3, EEF1A2, CCDC157, ACTB, ATAD3B, MYH10, CDX1, SLC3A2, RBM25, NPC1L1, PTPLAD1, FNBP4, FTSJ3, RFWD3, GIGYF2, PDCD11, UPF2, KIAA1429, KRT1, YLPM1, HEATR1, POTEKP, CPT1A, NOP2, N4BP2L2, URB1, WDR4, NPM1, RANBP2, OTUD7B, TUBA8, DMPK, UGGT1, ATP2A1, HNRNPU, KRT6A, RPL7, IARS, ANTXR2, FAM189A2, ZDHHC1, LRRIQ1, TNFRSF19, DAAM2, MANSC1, GPR21, HAVCR2, ITM2A, RNF19B, SGCA, NRG1, HEPACAM2, PDCD1, CD79B, TLR2, LRRTM2, DCT |
| - 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 SERPINA1_LGR4 |
| 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 |
| Hgene | SERPINA1 | P01009 | DB01593 | Zinc | Alpha-1-antitrypsin | small molecule | approved|investigational |
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RelatedDiseases for SERPINA1_LGR4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SERPINA1 | C0023895 | Liver diseases | 6 | CTD_human |
| Hgene | SERPINA1 | C0023890 | Liver Cirrhosis | 3 | CTD_human |
| Hgene | SERPINA1 | C0005586 | Bipolar Disorder | 2 | CTD_human;PSYGENET |
| Hgene | SERPINA1 | C0024117 | Chronic Obstructive Airway Disease | 2 | CTD_human;HPO |
| Hgene | SERPINA1 | C0030328 | Panniculitis, Nodular Nonsuppurative | 2 | CTD_human |
| Hgene | SERPINA1 | C0221757 | alpha 1-Antitrypsin Deficiency | 2 | CTD_human;ORPHANET |
| Hgene | SERPINA1 | C0525045 | Mood Disorders | 2 | PSYGENET |
| Hgene | SERPINA1 | C2239176 | Liver carcinoma | 2 | CTD_human;HPO |
| Hgene | SERPINA1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | SERPINA1 | C0003469 | Anxiety Disorders | 1 | CTD_human |
| Hgene | SERPINA1 | C0003850 | Arteriosclerosis | 1 | CTD_human |
| Hgene | SERPINA1 | C0003949 | Asbestosis | 1 | CTD_human |
| Hgene | SERPINA1 | C0006267 | Bronchiectasis | 1 | CTD_human |
| Hgene | SERPINA1 | C0008370 | Cholestasis | 1 | CTD_human |
| Hgene | SERPINA1 | C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human |
| Hgene | SERPINA1 | C0019080 | Hemorrhage | 1 | CTD_human |
| Hgene | SERPINA1 | C0019693 | HIV Infections | 1 | CTD_human |
| Hgene | SERPINA1 | C0020615 | Hypoglycemia | 1 | CTD_human |
| Hgene | SERPINA1 | C0024115 | Lung diseases | 1 | CTD_human |
| Hgene | SERPINA1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | SERPINA1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | SERPINA1 | C0034067 | Pulmonary Emphysema | 1 | CTD_human;HPO |
| Hgene | SERPINA1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | SERPINA1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | SERPINA1 | C0039841 | Thiamine Deficiency | 1 | CTD_human |
| Hgene | SERPINA1 | C0042384 | Vasculitis | 1 | CTD_human |
| Hgene | SERPINA1 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
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