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Fusion gene ID: 14928 |
FusionGeneSummary for GNB2L1_APOB |
Fusion gene summary |
Fusion gene information | Fusion gene name: GNB2L1_APOB | Fusion gene ID: 14928 | Hgene | Tgene | Gene symbol | GNB2L1 | APOB | Gene ID | 10399 | 338 |
Gene name | receptor for activated C kinase 1 | apolipoprotein B | |
Synonyms | GNB2L1|Gnb2-rs1|H12.3|HLC-7|PIG21 | FLDB|LDLCQ4|apoB-100|apoB-48 | |
Cytomap | 5q35.3 | 2p24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | receptor of activated protein C kinase 1cell proliferation-inducing gene 21 proteinguanine nucleotide binding protein (G protein), beta polypeptide 2-like 1guanine nucleotide binding protein beta polypeptide 2-like 1guanine nucleotide-binding protein | apolipoprotein B-100apolipoprotein B (including Ag(x) antigen)apolipoprotein B48 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | P04114 | ||
Ensembl transtripts involved in fusion gene | ENST00000514455, ENST00000511566, ENST00000376817, ENST00000512805, ENST00000504726, ENST00000511900, ENST00000456394, ENST00000505461, | ENST00000233242, ENST00000399256, | |
Fusion gene scores | * DoF score | 4 X 2 X 4=32 | 4 X 4 X 2=32 |
# samples | 6 | 5 | |
** MAII score | log2(6/32*10)=0.906890595608518 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: GNB2L1 [Title/Abstract] AND APOB [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 | GNB2L1 | GO:0001934 | positive regulation of protein phosphorylation | 11312657|17108144 |
Hgene | GNB2L1 | GO:0030308 | negative regulation of cell growth | 9584165 |
Hgene | GNB2L1 | GO:0030335 | positive regulation of cell migration | 20499158 |
Hgene | GNB2L1 | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 19785988 |
Hgene | GNB2L1 | GO:0032464 | positive regulation of protein homooligomerization | 20541605 |
Hgene | GNB2L1 | GO:0043065 | positive regulation of apoptotic process | 20541605 |
Hgene | GNB2L1 | GO:0043547 | positive regulation of GTPase activity | 20499158 |
Hgene | GNB2L1 | GO:0051726 | regulation of cell cycle | 9584165 |
Hgene | GNB2L1 | GO:0071333 | cellular response to glucose stimulus | 20103773 |
Hgene | GNB2L1 | GO:0071363 | cellular response to growth factor stimulus | 20010870 |
Tgene | APOB | GO:0010744 | positive regulation of macrophage derived foam cell differentiation | 17244792|18322245|19114110 |
Tgene | APOB | GO:0010884 | positive regulation of lipid storage | 18322245 |
Tgene | APOB | GO:0010886 | positive regulation of cholesterol storage | 19114110 |
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-BC-A3KF-01A | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
TCGA | RV | LIHC | TCGA-CC-A3MC-01A | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
* 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-3CDS | ENST00000514455 | ENST00000233242 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
intron-3CDS | ENST00000514455 | ENST00000399256 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
Frame-shift | ENST00000511566 | ENST00000233242 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
Frame-shift | ENST00000511566 | ENST00000399256 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
Frame-shift | ENST00000376817 | ENST00000233242 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
Frame-shift | ENST00000376817 | ENST00000399256 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
Frame-shift | ENST00000512805 | ENST00000233242 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
Frame-shift | ENST00000512805 | ENST00000399256 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
Frame-shift | ENST00000504726 | ENST00000233242 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
Frame-shift | ENST00000504726 | ENST00000399256 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
intron-3CDS | ENST00000511900 | ENST00000233242 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
intron-3CDS | ENST00000511900 | ENST00000399256 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
intron-3CDS | ENST00000456394 | ENST00000233242 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
intron-3CDS | ENST00000456394 | ENST00000399256 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
intron-3CDS | ENST00000505461 | ENST00000233242 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
intron-3CDS | ENST00000505461 | ENST00000399256 | GNB2L1 | chr5 | 180663934 | - | APOB | chr2 | 21250937 | - |
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FusionProtFeatures for GNB2L1_APOB |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GNB2L1 | APOB |
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 |
- 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 GNB2L1_APOB |
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 GNB2L1_APOB |
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 |
GNB2L1 | HABP4, NSMAF, AR, ITGB2, TSC22D4, PTPRM, CCNA1, EIF6, TYK2, JAK1, STAT1, IL4R, IL2RB, EPOR, TP73, RB1, TP63, CDKN1A, DDX19B, SLC27A6, PTN, GOLM1, GRAP2, PRKCB, ITGB1, CSF2RB, PRKCE, SLC9A3R1, PDE4D, FYN, GRIN2B, PLCG1, IFNAR2, PRKCA, LARP4B, PABPC1, AGTRAP, SRC, RASA3, RASA1, IGF1R, OTUB1, SAT1, HIF1A, SAP25, HIST1H3A, HIST1H4A, GNB2L1, JUN, FBXW7, RNF185, FEM1B, TCEB1, COPS5, MAPK6, SREK1, TCEB2, SIRT7, PRKAB2, ISG15, VHL, CUL3, CDK2, CUL1, CAND1, PPP2R1A, MID1, GNB1, GNG2, DYNLL1, BCL2L11, CISH, CUL2, KCNA5, KCNAB1, NR3C1, RPL13, RPL4, RPL7A, ANXA2, RPL27A, RPL15, RPL21, RPL19, RPS27L, RPL37A, RPS2, TIAL1, HSD17B4, RPS25, HSP90B1, BRCA1, ECT2, MDC1, PAXIP1, TP53BP1, FN1, VCAM1, CHERP, PRPF31, IK, WDR83, DGCR14, HNRNPH2, IL7R, UBL4A, CFTR, CBX8, PPID, CD81, FBXW2, ADRB2, RHOA, ADH1B, AURKB, TBXA2R, AGTR1, FBXO6, TARDBP, PTOV1, RPS6, EIF3E, DYNC1LI2, EIF3K, RPS21, RPS5, RPSA, RPS12, RPS13, RPS16, RPS18, RPS20, RPS27, RPS3A, RPS3, RPS8, RPS9, SYNCRIP, TRIM45, STAU1, HUWE1, MKRN2, ALK, SYN2, CUL7, OBSL1, EZH2, SUZ12, RNF2, BMI1, WDR76, ESR1, LARP4, TNRC6C, MKI67, ZCCHC3, HELZ, RIOK3, WIPI1, HNRNPA1, UNK, CAB39, CCDC58, FUBP1, AK2, ARF4, DAZAP1, EEF1A1, ELAVL1, HSPA9, PIR, RPL12, RPL5, RPL7, RPLP0, UBE2T, LSM12, PCBP1, PCBP2, SFN, NTRK1, IFNAR1, NPM1, RPL10, SGTB, TRAF6, TNFRSF11A, GAN, SKI, MCM2, GLI1, TRAF2, MAP3K7, MAP2K6, U2AF2, AHSA1, WWP2, DERL1, ZNF746, CDH1, MTNR1A, CYLD, MCPH1, EED, SMPD3, RSC1A1 | APOB | MTTP, CANX, CALR, BGN, HSP90B1, PDIA4, CALCR, PPIB, SEC61A1, SEC61B, LIPC, LRP6, UCHL5, RAD21, VCP, APOA1, APOB, HSPA5, SYVN1, DERL1, VIMP, FAF2, PLIN2, ARFGAP1, AKT2, SMAD3, PRDX4, MLF1, YIPF2, P2RY14, AUP1, P2RY12, SLC18A1, B3GALT2, SLC38A6, TMEM41B, PSMD14, CRKL, MYH9, PAX6, ANLN, ARX, MZT1, EGFR, RPN2, YIPF3, LITAF, TMEM128, ZFYVE27, ZDHHC11, SLC37A3, CKLF, SLC22A9, SMPD3, SLC10A7, MFSD4, SLC2A2 |
- 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 GNB2L1_APOB |
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 GNB2L1_APOB |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | APOB | C1704417 | Hyperlipoproteinemia Type IIb | 4 | UNIPROT |
Tgene | APOB | C1704299 | Hypobetalipoproteinemia, Familial, Apolipoprotein B | 3 | CTD_human |
Tgene | APOB | C0007222 | Cardiovascular Diseases | 2 | CTD_human |
Tgene | APOB | C0015695 | Fatty Liver | 2 | CTD_human |
Tgene | APOB | C0004943 | Behcet Syndrome | 1 | CTD_human |
Tgene | APOB | C0010068 | Coronary heart disease | 1 | CTD_human |
Tgene | APOB | C0020443 | Hypercholesterolemia | 1 | CTD_human;HPO |
Tgene | APOB | C0020445 | Hypercholesterolemia, Familial | 1 | CTD_human;HPO |
Tgene | APOB | C0020473 | Hyperlipidemia | 1 | CTD_human;HPO |
Tgene | APOB | C0020557 | Hypertriglyceridemia | 1 | CTD_human |
Tgene | APOB | C0242339 | Dyslipidemias | 1 | CTD_human |
Tgene | APOB | C1848533 | Ataxia with vitamin E deficiency | 1 | CTD_human |
Tgene | APOB | C1862596 | Familial hypobetalipoproteinemia | 1 | UNIPROT |