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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ABCG5-DYNC2LI1 (FusionGDB2 ID:HG64240TG51626) |
Fusion Gene Summary for ABCG5-DYNC2LI1 |
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Fusion gene information | Fusion gene name: ABCG5-DYNC2LI1 | Fusion gene ID: hg64240tg51626 | Hgene | Tgene | Gene symbol | ABCG5 | DYNC2LI1 | Gene ID | 64240 | 51626 |
Gene name | ATP binding cassette subfamily G member 5 | dynein cytoplasmic 2 light intermediate chain 1 | |
Synonyms | STSL|STSL2 | CGI-60|D2LIC|LIC3 | |
Cytomap | ('ABCG5')('DYNC2LI1') 2p21 | 2p21 | |
Type of gene | protein-coding | protein-coding | |
Description | ATP-binding cassette sub-family G member 5ATP-binding cassette, sub-family G (WHITE), member 5sterolin 1 | cytoplasmic dynein 2 light intermediate chain 1 | |
Modification date | 20200320 | 20200313 | |
UniProtAcc | Q9H222 | . | |
Ensembl transtripts involved in fusion gene | ENST00000260645, ENST00000405322, ENST00000543989, | ||
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 5 X 2=40 |
# samples | 1 | 5 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ABCG5 [Title/Abstract] AND DYNC2LI1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ABCG5(44036844)-DYNC2LI1(44037115), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for ABCG5-DYNC2LI1 |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ABCG5-DYNC2LI1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ABCG5-DYNC2LI1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:44036844/:44037115) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
ABCG5 | . |
FUNCTION: ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane (PubMed:27144356). Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11138003, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11138003, PubMed:15054092). The heterodimer with ABCG8 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356). {ECO:0000269|PubMed:11138003, ECO:0000269|PubMed:15054092, ECO:0000269|PubMed:16893193, ECO:0000269|PubMed:20210363, ECO:0000269|PubMed:27144356, ECO:0000303|PubMed:11590207, ECO:0000305|PubMed:11099417}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for ABCG5-DYNC2LI1 |
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Fusion Gene PPI Analysis for ABCG5-DYNC2LI1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ABCG5-DYNC2LI1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ABCG5-DYNC2LI1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ABCG5 | C0342907 | Sitosterolemia | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ABCG5 | C0010054 | Coronary Arteriosclerosis | 2 | CTD_human |
Hgene | ABCG5 | C1956346 | Coronary Artery Disease | 2 | CTD_human |
Hgene | ABCG5 | C2749759 | Macrothrombocytopenia-Stomatocytosis, Mediterranean | 2 | CTD_human |
Hgene | ABCG5 | C0004153 | Atherosclerosis | 1 | CTD_human |
Hgene | ABCG5 | C0005818 | Blood Platelet Disorders | 1 | GENOMICS_ENGLAND |
Hgene | ABCG5 | C0010068 | Coronary heart disease | 1 | CTD_human |
Hgene | ABCG5 | C0020445 | Hypercholesterolemia, Familial | 1 | GENOMICS_ENGLAND |
Hgene | ABCG5 | C0023772 | Lipid Metabolism, Inborn Errors | 1 | CTD_human |
Hgene | ABCG5 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | ABCG5 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | ABCG5 | C0043325 | Xanthomatosis | 1 | CTD_human |
Hgene | ABCG5 | C0242339 | Dyslipidemias | 1 | CTD_human |
Hgene | ABCG5 | C0302314 | Xanthoma | 1 | CTD_human |
Hgene | ABCG5 | C0342881 | Familial hypercholesterolemia - homozygous | 1 | ORPHANET |
Hgene | ABCG5 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | ABCG5 | C0598784 | Dyslipoproteinemias | 1 | CTD_human |
Hgene | ABCG5 | C1563937 | Atherogenesis | 1 | CTD_human |
Tgene | C4310724 | SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY | 2 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0013903 | Ellis-Van Creveld Syndrome | 1 | ORPHANET | |
Tgene | C0265275 | Jeune thoracic dystrophy | 1 | ORPHANET |