|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 36347 |
FusionGeneSummary for STARD3_FAM20A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: STARD3_FAM20A | Fusion gene ID: 36347 | Hgene | Tgene | Gene symbol | STARD3 | FAM20A | Gene ID | 10948 | 54757 |
| Gene name | StAR related lipid transfer domain containing 3 | FAM20A, golgi associated secretory pathway pseudokinase | |
| Synonyms | CAB1|MLN64|es64 | AI1G|AIGFS|FP2747 | |
| Cytomap | 17q12 | 17q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | stAR-related lipid transfer protein 3MLN 64START domain-containing protein 3StAR-related lipid transfer (START) domain containing 3metastatic lymph node gene 64 proteinmetastatic lymph node protein 64steroidogenic acute regulatory protein related | pseudokinase FAM20Afamily with sequence similarity 20, member Aprotein FAM20A | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q14849 | Q96MK3 | |
| Ensembl transtripts involved in fusion gene | ENST00000336308, ENST00000578232, ENST00000544210, ENST00000394250, ENST00000580611, | ENST00000592554, ENST00000226094, | |
| Fusion gene scores | * DoF score | 21 X 6 X 7=882 | 3 X 3 X 2=18 |
| # samples | 22 | 2 | |
| ** MAII score | log2(22/882*10)=-2.00327513203286 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/18*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: STARD3 [Title/Abstract] AND FAM20A [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 | STARD3 | GO:0030301 | cholesterol transport | 28377464 |
| Hgene | STARD3 | GO:0099044 | vesicle tethering to endoplasmic reticulum | 24105263|28377464 |
| Tgene | FAM20A | GO:0001934 | positive regulation of protein phosphorylation | 25789606 |
| 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 | BRCA | TCGA-3C-AALI-01A | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| * 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 |
| 5UTR-3CDS | ENST00000336308 | ENST00000592554 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| 5UTR-5UTR | ENST00000336308 | ENST00000226094 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| 3UTR-3CDS | ENST00000578232 | ENST00000592554 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| 3UTR-5UTR | ENST00000578232 | ENST00000226094 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| 5UTR-3CDS | ENST00000544210 | ENST00000592554 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| 5UTR-5UTR | ENST00000544210 | ENST00000226094 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| 5UTR-3CDS | ENST00000394250 | ENST00000592554 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| 5UTR-5UTR | ENST00000394250 | ENST00000226094 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| 5UTR-3CDS | ENST00000580611 | ENST00000592554 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
| 5UTR-5UTR | ENST00000580611 | ENST00000226094 | STARD3 | chr17 | 37793484 | + | FAM20A | chr17 | 66548092 | - |
Top |
FusionProtFeatures for STARD3_FAM20A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| STARD3 | FAM20A |
| Sterol-binding protein that mediates cholesteroltransport from the endoplasmic reticulum to endosomes(PubMed:11053434, PubMed:15930133, PubMed:22514632,PubMed:28377464). Creates contact site between the endoplasmicreticulum and late endosomes: localizes to late endosome membranesand contacts the endoplasmic reticulum via interaction with VAPAand VAPB (PubMed:24105263, PubMed:28377464). Acts as a lipidtransfer protein that redirects sterol to the endosome at theexpense of the cell membrane and favors membrane formation insideendosomes (PubMed:28377464). May also mediate cholesteroltransport between other membranes, such as mitochondria membraneor cell membrane (PubMed:12070139, PubMed:19965586). However, suchresults need additional experimental evidences; probably mainlymediates cholesterol transport from the endoplasmic reticulum toendosomes (PubMed:28377464). Does not activate transcriptionalcholesterol sensing (PubMed:28377464). Able to bind other lipids,such as lutein, a xanthophyll carotenoids that form the macularpigment of the retina (PubMed:21322544).{ECO:0000269|PubMed:11053434, ECO:0000269|PubMed:12070139,ECO:0000269|PubMed:15930133, ECO:0000269|PubMed:19965586,ECO:0000269|PubMed:21322544, ECO:0000269|PubMed:22514632,ECO:0000269|PubMed:24105263, ECO:0000269|PubMed:28377464}. | Pseudokinase that acts as an allosteric activator of theGolgi serine/threonine protein kinase FAM20C and is involved inbiomineralization of teeth. Forms a complex with FAM20C andincreases the ability of FAM20C to phosphorylate the proteins thatform the 'matrix' that guides the deposition of the enamelminerals. {ECO:0000269|PubMed:25789606}. |
| 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 |
Top |
FusionGeneSequence for STARD3_FAM20A |
| 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). |
Top |
FusionGenePPI for STARD3_FAM20A |
| 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 |
| STARD3 | GOPC, SPACA1, SDF4, ERGIC3, HEPACAM2, VAPB, CREB3, C19orf26, MME, P2RX2, SLC15A1, CHRM3, MANSC1, PMEL, CLEC2D, TSPYL6, TRIM25, LMNA | FAM20A |
| - 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 |
Top |
RelatedDrugs for STARD3_FAM20A |
| 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 |
Top |
RelatedDiseases for STARD3_FAM20A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | STARD3 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Hgene | STARD3 | C3496069 | cocaine use | 1 | PSYGENET |
| Tgene | FAM20A | C2931783 | Amelogenesis imperfecta nephrocalcinosis | 3 | ORPHANET;UNIPROT |
| Tgene | FAM20A | C3495559 | Juvenile arthritis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|