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Fusion gene ID: 19502 |
FusionGeneSummary for LASP1_RHBDL3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: LASP1_RHBDL3 | Fusion gene ID: 19502 | Hgene | Tgene | Gene symbol | LASP1 | RHBDL3 | Gene ID | 3927 | 162494 |
Gene name | LIM and SH3 protein 1 | rhomboid like 3 | |
Synonyms | Lasp-1|MLN50 | RHBDL4|VRHO | |
Cytomap | 17q12 | 17q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | LIM and SH3 domain protein 1metastatic lymph node gene 50 protein | rhomboid-related protein 3rhomboid, veinlet-like 3rhomboid, veinlet-like 4ventrhoid transmembrane protein | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q14847 | P58872 | |
Ensembl transtripts involved in fusion gene | ENST00000318008, ENST00000433206, ENST00000435347, | ENST00000269051, ENST00000538145, ENST00000536287, | |
Fusion gene scores | * DoF score | 9 X 9 X 4=324 | 5 X 4 X 4=80 |
# samples | 11 | 5 | |
** MAII score | log2(11/324*10)=-1.55849028935997 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: LASP1 [Title/Abstract] AND RHBDL3 [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 | BM846678 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
* 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-intron | ENST00000318008 | ENST00000269051 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
5CDS-intron | ENST00000318008 | ENST00000538145 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
5CDS-intron | ENST00000318008 | ENST00000536287 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
5CDS-intron | ENST00000433206 | ENST00000269051 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
5CDS-intron | ENST00000433206 | ENST00000538145 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
5CDS-intron | ENST00000433206 | ENST00000536287 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
5CDS-intron | ENST00000435347 | ENST00000269051 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
5CDS-intron | ENST00000435347 | ENST00000538145 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
5CDS-intron | ENST00000435347 | ENST00000536287 | LASP1 | chr17 | 37054772 | + | RHBDL3 | chr17 | 30651793 | - |
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FusionProtFeatures for LASP1_RHBDL3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
LASP1 | RHBDL3 |
Plays an important role in the regulation of dynamicactin-based, cytoskeletal activities. Agonist-dependent changes inLASP1 phosphorylation may also serve to regulate actin-associatedion transport activities, not only in the parietal cell but alsoin certain other F-actin-rich secretory epithelial cell types (Bysimilarity). {ECO:0000250}. | May be involved in regulated intramembrane proteolysisand the subsequent release of functional polypeptides from theirmembrane anchors. {ECO:0000250}. |
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 LASP1_RHBDL3 |
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 LASP1_RHBDL3 |
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 LASP1_RHBDL3 |
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 LASP1_RHBDL3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | LASP1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | LASP1 | C0036341 | Schizophrenia | 1 | PSYGENET |