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Fusion gene ID: 22200 |
FusionGeneSummary for MMACHC_TTC23L |
Fusion gene summary |
Fusion gene information | Fusion gene name: MMACHC_TTC23L | Fusion gene ID: 22200 | Hgene | Tgene | Gene symbol | MMACHC | TTC23L | Gene ID | 25974 | 153657 |
Gene name | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | tetratricopeptide repeat domain 23 like | |
Synonyms | cblC | MC25-1 | |
Cytomap | 1p34.1 | 5p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | methylmalonic aciduria and homocystinuria type C proteincyanocobalamin reductase (cyanide-eliminating) | tetratricopeptide repeat protein 23-like | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9Y4U1 | Q6PF05 | |
Ensembl transtripts involved in fusion gene | ENST00000401061, ENST00000477188, | ENST00000505624, ENST00000514080, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
# samples | 1 | 2 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: MMACHC [Title/Abstract] AND TTC23L [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 | MMACHC | GO:0006749 | glutathione metabolic process | 19801555|22642810 |
Hgene | MMACHC | GO:0009235 | cobalamin metabolic process | 19700356|22642810 |
Hgene | MMACHC | GO:0009236 | cobalamin biosynthetic process | 19801555 |
Hgene | MMACHC | GO:0055114 | oxidation-reduction process | 19801555 |
Hgene | MMACHC | GO:0070988 | demethylation | 19801555 |
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 | ACC | TCGA-OR-A5LL-01A | MMACHC | chr1 | 45966085 | + | TTC23L | chr5 | 34896875 | + |
* 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 |
Frame-shift | ENST00000401061 | ENST00000505624 | MMACHC | chr1 | 45966085 | + | TTC23L | chr5 | 34896875 | + |
5CDS-intron | ENST00000401061 | ENST00000514080 | MMACHC | chr1 | 45966085 | + | TTC23L | chr5 | 34896875 | + |
intron-3CDS | ENST00000477188 | ENST00000505624 | MMACHC | chr1 | 45966085 | + | TTC23L | chr5 | 34896875 | + |
intron-intron | ENST00000477188 | ENST00000514080 | MMACHC | chr1 | 45966085 | + | TTC23L | chr5 | 34896875 | + |
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FusionProtFeatures for MMACHC_TTC23L |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MMACHC | TTC23L |
Catalyzes the reductive dealkylation of cyanocobalaminto cob(II)alamin, using FAD or FMN as cofactor and NADPH ascosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810).Can also catalyze the glutathione-dependent reductivedemethylation of methylcobalamin, and, with much lower efficiency,the glutathione-dependent reductive demethylation ofadenosylcobalamin (PubMed:19801555, PubMed:22642810,PubMed:25809485). Under anaerobic conditions cob(I)alamin is thefirst product; it is highly reactive and is converted toaquocob(II)alamin in the presence of oxygen (PubMed:19801555).Binds cyanocobalamin, adenosylcobalamin, methylcobalamin andother, related vitamin B12 derivatives (PubMed:21071249).{ECO:0000269|PubMed:19700356, ECO:0000269|PubMed:19801555,ECO:0000269|PubMed:21071249, ECO:0000269|PubMed:21697092,ECO:0000269|PubMed:22642810, ECO:0000269|PubMed:25809485}. |
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 MMACHC_TTC23L |
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 MMACHC_TTC23L |
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 |
MMACHC | MMADHC, UBE2L3, SELENBP1, TRIM25 | TTC23L | IQCE, CTAGE5, EXOC5, CBY1, EGLN3, EFCAB7, VASP, CALCOCO2 |
- 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 MMACHC_TTC23L |
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 |
Hgene | MMACHC | Q9Y4U1 | DB00200 | Hydroxocobalamin | Methylmalonic aciduria and homocystinuria type C protein | small molecule | approved |
Hgene | MMACHC | Q9Y4U1 | DB00115 | Cyanocobalamin | Methylmalonic aciduria and homocystinuria type C protein | small molecule | approved|nutraceutical |
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RelatedDiseases for MMACHC_TTC23L |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MMACHC | C1848561 | Methylmalonic acidemia with homocystinuria | 2 | CTD_human;ORPHANET;UNIPROT |