![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 39924 |
FusionGeneSummary for TTC19_MMP28 |
![]() |
Fusion gene information | Fusion gene name: TTC19_MMP28 | Fusion gene ID: 39924 | Hgene | Tgene | Gene symbol | TTC19 | MMP28 | Gene ID | 54902 | 79148 |
Gene name | tetratricopeptide repeat domain 19 | matrix metallopeptidase 28 | |
Synonyms | 2010204O13Rik|MC3DN2 | EPILYSIN|MM28|MMP-25|MMP-28|MMP25 | |
Cytomap | 17p12 | 17q12 | |
Type of gene | protein-coding | protein-coding | |
Description | tetratricopeptide repeat protein 19, mitochondrialTPR repeat protein 19 | matrix metalloproteinase-28matrix metalloprotease MMP25 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q6DKK2 | Q9H239 | |
Ensembl transtripts involved in fusion gene | ENST00000261647, ENST00000486880, ENST00000497842, | ENST00000250144, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 2 X 3 X 2=12 |
# samples | 5 | 2 | |
** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TTC19 [Title/Abstract] AND MMP28 [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) |
![]() |
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 |
TCGA | RV | CHOL | TCGA-W5-AA31-01A | TTC19 | chr17 | 15903559 | + | MMP28 | chr17 | 34097331 | - |
TCGA | LD | CHOL | TCGA-W5-AA31-01A | TTC19 | chr17 | 15903559 | + | MMP28 | chr17 | 34083438 | - |
* 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 |
5CDS-intron | ENST00000261647 | ENST00000250144 | TTC19 | chr17 | 15903559 | + | MMP28 | chr17 | 34097331 | - |
5CDS-intron | ENST00000486880 | ENST00000250144 | TTC19 | chr17 | 15903559 | + | MMP28 | chr17 | 34097331 | - |
3UTR-intron | ENST00000497842 | ENST00000250144 | TTC19 | chr17 | 15903559 | + | MMP28 | chr17 | 34097331 | - |
5CDS-intron | ENST00000261647 | ENST00000250144 | TTC19 | chr17 | 15903559 | + | MMP28 | chr17 | 34083438 | - |
5CDS-intron | ENST00000486880 | ENST00000250144 | TTC19 | chr17 | 15903559 | + | MMP28 | chr17 | 34083438 | - |
3UTR-intron | ENST00000497842 | ENST00000250144 | TTC19 | chr17 | 15903559 | + | MMP28 | chr17 | 34083438 | - |
Top |
FusionProtFeatures for TTC19_MMP28 |
![]() |
Hgene | Tgene |
TTC19 | MMP28 |
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}. | Can degrade casein. Could play a role in tissueshomeostasis and repair. |
![]() * 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 TTC19_MMP28 |
![]() (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 TTC19_MMP28 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TTC19 | UPF3B, SPRED1, HPS6, UBA1, CHMP4A, ATXN1, NAB2, REL, EIF4ENIF1, CCDC33, L3MBTL3, CCDC36, RHOD, CMPK1, RTBDN, GPANK1, KIAA1456, MYBPHL, ELMO1, FAM64A, GUK1, BPHL, C2orf48, SMC6, PAK7, EXT2, RHPN1, GCNT1, ARHGAP36, C17orf89, FOXD4, RPL18, SLAIN2, FDPS, DYNC2LI1, C12orf74, SCAMP1, TRIM25 | MMP28 | SND1, TRIM68 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for TTC19_MMP28 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for TTC19_MMP28 |
![]() (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 |