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Fusion Protein:CHCHD3-CYP51A1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: CHCHD3-CYP51A1 | FusionPDB ID: 16235 | FusionGDB2.0 ID: 16235 | Hgene | Tgene | Gene symbol | CHCHD3 | CYP51A1 | Gene ID | 54927 | 1595 |
Gene name | coiled-coil-helix-coiled-coil-helix domain containing 3 | cytochrome P450 family 51 subfamily A member 1 | |
Synonyms | MICOS19|MINOS3|Mic19|PPP1R22 | CP51|CYP51|CYPL1|LDM|P450-14DM|P450L1 | |
Cytomap | 7q32.3-q33 | 7q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | MICOS complex subunit MIC19coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrialmitochondrial contact site and cristae organizing system subunit 19mitochondrial inner membrane organizing system 3protein phosphatase 1, regulato | lanosterol 14-alpha demethylaseCYPLIcytochrome P450 51A1cytochrome P450, 51 (lanosterol 14-alpha-demethylase)cytochrome P450, family 51, subfamily A, polypeptide 1cytochrome P450-14DMcytochrome P45014DMcytochrome P450LIsterol 14-alpha demethylase | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | Q9NX63 | Q16850 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000262570, ENST00000448878, ENST00000476546, ENST00000542753, | ENST00000450723, ENST00000003100, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 23 X 25 X 10=5750 | 2 X 2 X 2=8 |
# samples | 31 | 2 | |
** MAII score | log2(31/5750*10)=-4.21322183544486 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: CHCHD3 [Title/Abstract] AND CYP51A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CHCHD3(132570422)-CYP51A1(91761186), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CHCHD3-CYP51A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CHCHD3-CYP51A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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 | CHCHD3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 22567091 |
Tgene | CYP51A1 | GO:0006694 | steroid biosynthetic process | 20149798 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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 | STAD | TCGA-HU-A4GH-01A | CHCHD3 | chr7 | 132570422 | - | CYP51A1 | chr7 | 91761186 | - |
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Fusion ORF Analysis |
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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) |
ENST00000262570 | CHCHD3 | chr7 | 132570422 | - | ENST00000003100 | CYP51A1 | chr7 | 91761186 | - | 3450 | 598 | 145 | 1935 | 596 |
ENST00000448878 | CHCHD3 | chr7 | 132570422 | - | ENST00000003100 | CYP51A1 | chr7 | 91761186 | - | 3437 | 585 | 117 | 1922 | 601 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000262570 | ENST00000003100 | CHCHD3 | chr7 | 132570422 | - | CYP51A1 | chr7 | 91761186 | - | 0.00028134 | 0.9997186 |
ENST00000448878 | ENST00000003100 | CHCHD3 | chr7 | 132570422 | - | CYP51A1 | chr7 | 91761186 | - | 0.000241879 | 0.99975806 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >16235_16235_1_CHCHD3-CYP51A1_CHCHD3_chr7_132570422_ENST00000262570_CYP51A1_chr7_91761186_ENST00000003100_length(amino acids)=596AA_BP=151 MGGTTSTRRVTFEADENENITVVKGIRLSENVIDRMKESSPSGSKSQRYSGAYGASVSDEELKRRVAEELALEQAKKESEDQKRLKQAKE LDRERAAANEQLTRAILRERICSEEERAKAKHLARQLEEKDRVLKKQDAFYKEQLARLEERKSPPYIFSPIPFLGHAIAFGKSPIEFLEN AYEKYGPVFSFTMVGKTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLEQKKMLKSGLNIAHFKQHVSIIEK ETKEYFESWGESGEKNVFEALSELIILTASHCLHGKEIRSQLNEKVAQLYADLDGGFSHAAWLLPGWLPLPSFRRRDRAHREIKDIFYKA IQKRRQSQEKIDDILQTLLDATYKDGRPLTDDEVAGMLIGLLLAGQHTSSTTSAWMGFFLARDKTLQKKCYLEQKTVCGENLPPLTYDQL KDLNLLDRCIKETLRLRPPIMIMMRMARTPQTVAGYTIPPGHQVCVSPTVNQRLKDSWVERLDFNPDRYLQDNPASGEKFAYVPFGAGRH -------------------------------------------------------------- >16235_16235_2_CHCHD3-CYP51A1_CHCHD3_chr7_132570422_ENST00000448878_CYP51A1_chr7_91761186_ENST00000003100_length(amino acids)=601AA_BP=156 MGGTTSTRRVTFEADENENITVVKGIRLSENVIDRMKESSPSGSKSQRYSGAYGASVSDEELKRRVAEELALEQAKKESEDQKRLKQAKE LDRERAAANEQLTRAILRERICSEEERAKAKHLVSIKNARQLEEKDRVLKKQDAFYKEQLARLEERKSPPYIFSPIPFLGHAIAFGKSPI EFLENAYEKYGPVFSFTMVGKTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLEQKKMLKSGLNIAHFKQHV SIIEKETKEYFESWGESGEKNVFEALSELIILTASHCLHGKEIRSQLNEKVAQLYADLDGGFSHAAWLLPGWLPLPSFRRRDRAHREIKD IFYKAIQKRRQSQEKIDDILQTLLDATYKDGRPLTDDEVAGMLIGLLLAGQHTSSTTSAWMGFFLARDKTLQKKCYLEQKTVCGENLPPL TYDQLKDLNLLDRCIKETLRLRPPIMIMMRMARTPQTVAGYTIPPGHQVCVSPTVNQRLKDSWVERLDFNPDRYLQDNPASGEKFAYVPF -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:132570422/chr7:91761186) - 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 |
CHCHD3 | CYP51A1 |
FUNCTION: Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:25781180). {ECO:0000269|PubMed:22567091, ECO:0000269|PubMed:25781180}. | FUNCTION: A cytochrome P450 monooxygenase involved in sterol biosynthesis. Catalyzes 14-alpha demethylation of lanosterol and 24,25-dihydrolanosterol likely through sequential oxidative conversion of 14-alpha methyl group to hydroxymethyl, then to carboxylaldehyde, followed by the formation of the delta 14,15 double bond in the sterol core and concomitant release of formic acid (PubMed:20149798, PubMed:8619637). 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:20149798, PubMed:8619637). {ECO:0000269|PubMed:20149798, ECO:0000269|PubMed:8619637}. |
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- 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 |
Tgene | CYP51A1 | chr7:132570422 | chr7:91761186 | ENST00000450723 | 0 | 10 | 24_44 | 0 | 405.0 | Transmembrane | Helical |
- 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 |
Hgene | CHCHD3 | chr7:132570422 | chr7:91761186 | ENST00000262570 | - | 5 | 8 | 180_222 | 151.0 | 228.0 | Domain | CHCH |
Hgene | CHCHD3 | chr7:132570422 | chr7:91761186 | ENST00000262570 | - | 5 | 8 | 183_193 | 151.0 | 228.0 | Motif | Cx9C motif 1 |
Hgene | CHCHD3 | chr7:132570422 | chr7:91761186 | ENST00000262570 | - | 5 | 8 | 204_214 | 151.0 | 228.0 | Motif | Cx9C motif 2 |
Tgene | CYP51A1 | chr7:132570422 | chr7:91761186 | ENST00000003100 | 0 | 10 | 24_44 | 64.0 | 510.0 | Transmembrane | Helical |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
CHCHD3 | |
CYP51A1 |
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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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Related Drugs to CHCHD3-CYP51A1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to CHCHD3-CYP51A1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |