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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:CYP39A1-LEMD2 (FusionGDB2 ID:HG51302TG221496) |
Fusion Gene Summary for CYP39A1-LEMD2 |
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Fusion gene information | Fusion gene name: CYP39A1-LEMD2 | Fusion gene ID: hg51302tg221496 | Hgene | Tgene | Gene symbol | CYP39A1 | LEMD2 | Gene ID | 51302 | 221496 |
Gene name | cytochrome P450 family 39 subfamily A member 1 | LEM domain nuclear envelope protein 2 | |
Synonyms | - | CTRCT42|LEM2|NET25|dJ482C21.1 | |
Cytomap | ('CYP39A1')('LEMD2') 6p12.3 | 6p21.31 | |
Type of gene | protein-coding | protein-coding | |
Description | 24-hydroxycholesterol 7-alpha-hydroxylasecytochrome P450, family 39, subfamily A, polypeptide 1cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1 | LEM domain-containing protein 2LEM domain containing 2hLEM2lamina-associated polypeptide-emerin-MAN1 domain containing 2 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q9NYL5 | Q8NC56 | |
Ensembl transtripts involved in fusion gene | ENST00000275016, ENST00000489657, | ||
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 6 X 6 X 2=72 |
# samples | 3 | 6 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CYP39A1 [Title/Abstract] AND LEMD2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CYP39A1(46620143)-LEMD2(33748930), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | CYP39A1-LEMD2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. CYP39A1-LEMD2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* 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 |
Hgene | CYP39A1 | GO:0006699 | bile acid biosynthetic process | 10748047 |
![]() * 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 |
ChimerDB4 | KIRC | TCGA-A3-3313-01A | CYP39A1 | chr6 | 46620143 | - | LEMD2 | chr6 | 33748930 | - |
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Fusion Gene ORF analysis for CYP39A1-LEMD2 |
![]() * 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-5UTR | ENST00000275016 | ENST00000502643 | CYP39A1 | chr6 | 46620143 | - | LEMD2 | chr6 | 33748930 | - |
5CDS-5UTR | ENST00000275016 | ENST00000508327 | CYP39A1 | chr6 | 46620143 | - | LEMD2 | chr6 | 33748930 | - |
Frame-shift | ENST00000275016 | ENST00000293760 | CYP39A1 | chr6 | 46620143 | - | LEMD2 | chr6 | 33748930 | - |
intron-3CDS | ENST00000489657 | ENST00000293760 | CYP39A1 | chr6 | 46620143 | - | LEMD2 | chr6 | 33748930 | - |
intron-5UTR | ENST00000489657 | ENST00000502643 | CYP39A1 | chr6 | 46620143 | - | LEMD2 | chr6 | 33748930 | - |
intron-5UTR | ENST00000489657 | ENST00000508327 | CYP39A1 | chr6 | 46620143 | - | LEMD2 | chr6 | 33748930 | - |
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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 CYP39A1-LEMD2 |
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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 CYP39A1-LEMD2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:46620143/:33748930) - 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 |
CYP39A1 | LEMD2 |
FUNCTION: A cytochrome P450 monooxygenase involved in neural cholesterol clearance through bile acid synthesis (PubMed:25201972, PubMed:10748047). Catalyzes 7-alpha hydroxylation of (24S)-hydroxycholesterol, a neural oxysterol that is metabolized to bile acids in the liver (PubMed:25201972, PubMed:10748047). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:25201972, PubMed:10748047). {ECO:0000269|PubMed:10748047, ECO:0000269|PubMed:25201972}. | FUNCTION: Involved in nuclear structure organization (PubMed:16339967). Required for maintaining the integrity of the nuclear envelope (PubMed:17097643). {ECO:0000269|PubMed:16339967, ECO:0000269|PubMed:17097643}.; FUNCTION: Required for embryonic development and is involved in regulation of several signaling pathways such as MAPK and AKT. Required for myoblast differentiation involving regulation of ERK signaling (By similarity). {ECO:0000250|UniProtKB:Q6DVA0}. |
![]() * 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 CYP39A1-LEMD2 |
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Fusion Gene PPI Analysis for CYP39A1-LEMD2 |
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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 CYP39A1-LEMD2 |
![]() (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 CYP39A1-LEMD2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CYP39A1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | C0220721 | CATARACT 46, JUVENILE-ONSET | 1 | CTD_human;UNIPROT | |
Tgene | C0266539 | Congenital total cataract | 1 | ORPHANET |