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Fusion gene ID: 19827 |
FusionGeneSummary for LITAF_CD68 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LITAF_CD68 | Fusion gene ID: 19827 | Hgene | Tgene | Gene symbol | LITAF | CD68 | Gene ID | 9516 | 968 |
| Gene name | lipopolysaccharide induced TNF factor | CD68 molecule | |
| Synonyms | PIG7|SIMPLE|TP53I7 | GP110|LAMP4|SCARD1 | |
| Cytomap | 16p13.13 | 17p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lipopolysaccharide-induced tumor necrosis factor-alpha factorLPS-induced TNF-alpha factorlipopolysaccharide-induced TNF-alpha factorp53-induced gene 7 proteinsmall integral membrane protein of lysosome/late endosometumor protein p53 inducible protein | macrosialinCD68 antigenmacrophage antigen CD68scavenger receptor class D, member 1 | |
| Modification date | 20180522 | 20180520 | |
| UniProtAcc | Q99732 | P34810 | |
| Ensembl transtripts involved in fusion gene | ENST00000571688, ENST00000413364, ENST00000339430, ENST00000381810, ENST00000570904, ENST00000571459, ENST00000572255, ENST00000576036, ENST00000574763, ENST00000571976, ENST00000574703, | ENST00000250092, ENST00000380498, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 6 X 5 X 2=60 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/60*10)=0 | |
| Context | PubMed: LITAF [Title/Abstract] AND CD68 [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 |
| 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 |
| ChiTaRS3.1 | CB529095 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| * 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-3UTR | ENST00000571688 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000571688 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000413364 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000413364 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000339430 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000339430 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000381810 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000381810 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000570904 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000570904 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000571459 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000571459 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000572255 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000572255 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000576036 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000576036 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000574763 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000574763 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000571976 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000571976 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000574703 | ENST00000250092 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
| intron-3UTR | ENST00000574703 | ENST00000380498 | LITAF | chr16 | 11642584 | + | CD68 | chr17 | 7484960 | - |
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FusionProtFeatures for LITAF_CD68 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LITAF | CD68 |
| Plays a role in endosomal protein trafficking and intargeting proteins for lysosomal degradation (PubMed:23166352).Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomaldegradation, and thereby helps downregulate downstream signalingcascades (PubMed:23166352). Helps recruit the ESCRT complexcomponents TSG101, HGS and STAM to cytoplasmic membranes(PubMed:23166352). Probably plays a role in regulating proteindegradation via its interaction with NEDD4 (PubMed:15776429). Mayalso contribute to the regulation of gene expression in thenucleus (PubMed:10200294, PubMed:15793005). Binds DNA (in vitro)and may play a synergistic role with STAT6 in the nucleus inregulating the expression of various cytokines (PubMed:15793005).May regulate the expression of numerous cytokines, such as TNF,CCL2, CCL5, CXCL1, IL1A and IL10 (PubMed:10200294,PubMed:15793005). {ECO:0000269|PubMed:15793005,ECO:0000269|PubMed:23166352, ECO:0000303|PubMed:15776429,ECO:0000305|PubMed:10200294}. | Could play a role in phagocytic activities of tissuemacrophages, both in intracellular lysosomal metabolism andextracellular cell-cell and cell-pathogen interactions. Binds totissue- and organ-specific lectins or selectins, allowing homingof macrophage subsets to particular sites. Rapid recirculation ofCD68 from endosomes and lysosomes to the plasma membrane may allowmacrophages to crawl over selectin-bearing substrates or othercells. |
| 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 LITAF_CD68 |
| 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 LITAF_CD68 |
| 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 |
| - 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 LITAF_CD68 |
| 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 LITAF_CD68 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LITAF | C0270913 | Charcot-Marie-Tooth disease, Type 1C | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CD68 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | CD68 | C0003872 | Arthritis, Psoriatic | 1 | CTD_human |
| Tgene | CD68 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Tgene | CD68 | C0022116 | Ischemia | 1 | CTD_human |
| Tgene | CD68 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| Tgene | CD68 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | CD68 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
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