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Fusion gene ID: 39928 |
FusionGeneSummary for TTC19_TTC19 |
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Fusion gene information | Fusion gene name: TTC19_TTC19 | Fusion gene ID: 39928 | Hgene | Tgene | Gene symbol | TTC19 | TTC19 | Gene ID | 54902 | 54902 |
Gene name | tetratricopeptide repeat domain 19 | tetratricopeptide repeat domain 19 | |
Synonyms | 2010204O13Rik|MC3DN2 | 2010204O13Rik|MC3DN2 | |
Cytomap | 17p12 | 17p12 | |
Type of gene | protein-coding | protein-coding | |
Description | tetratricopeptide repeat protein 19, mitochondrialTPR repeat protein 19 | tetratricopeptide repeat protein 19, mitochondrialTPR repeat protein 19 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q6DKK2 | Q6DKK2 | |
Ensembl transtripts involved in fusion gene | ENST00000261647, ENST00000486880, ENST00000497842, | ENST00000261647, ENST00000486880, ENST00000497842, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 4 X 4 X 2=32 |
# samples | 5 | 5 | |
** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TTC19 [Title/Abstract] AND TTC19 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | AK130773 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-intron | ENST00000261647 | ENST00000261647 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
intron-intron | ENST00000261647 | ENST00000486880 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
intron-intron | ENST00000261647 | ENST00000497842 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
intron-intron | ENST00000486880 | ENST00000261647 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
intron-intron | ENST00000486880 | ENST00000486880 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
intron-intron | ENST00000486880 | ENST00000497842 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
intron-intron | ENST00000497842 | ENST00000261647 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
intron-intron | ENST00000497842 | ENST00000486880 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
intron-intron | ENST00000497842 | ENST00000497842 | TTC19 | chr17 | 15922370 | + | TTC19 | chr17 | 15920083 | + |
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FusionProtFeatures for TTC19_TTC19 |
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Hgene | Tgene |
TTC19 | TTC19 |
Required for the preservation of the structural andfunctional integrity of mitochondrial respiratory complex III byallowing the physiological turnover of the Rieske protein UQCRFS1(PubMed:21278747, PubMed:28673544). Involved in the clearance ofUQCRFS1 N-terminal fragments, which are produced uponincorporation of UQCRFS1 into the complex III and whose presenceis detrimental for its catalytic activity (PubMed:28673544).{ECO:0000269|PubMed:21278747, ECO:0000269|PubMed:28673544}. | Required for the preservation of the structural andfunctional integrity of mitochondrial respiratory complex III byallowing the physiological turnover of the Rieske protein UQCRFS1(PubMed:21278747, PubMed:28673544). Involved in the clearance ofUQCRFS1 N-terminal fragments, which are produced uponincorporation of UQCRFS1 into the complex III and whose presenceis detrimental for its catalytic activity (PubMed:28673544).{ECO:0000269|PubMed:21278747, ECO:0000269|PubMed:28673544}. |
![]() * 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 TTC19_TTC19 |
![]() (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 TTC19_TTC19 |
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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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RelatedDrugs for TTC19_TTC19 |
![]() (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 TTC19_TTC19 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TTC19 | C0021359 | Infertility | 1 | CTD_human |
Hgene | TTC19 | C0027765 | nervous system disorder | 1 | CTD_human |
Hgene | TTC19 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human;HPO |
Hgene | TTC19 | C0751830 | Gait Disorders, Neurologic | 1 | CTD_human |
Tgene | TTC19 | C0021359 | Infertility | 1 | CTD_human |
Tgene | TTC19 | C0027765 | nervous system disorder | 1 | CTD_human |
Tgene | TTC19 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human;HPO |
Tgene | TTC19 | C0751830 | Gait Disorders, Neurologic | 1 | CTD_human |