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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 39928

FusionGeneSummary for TTC19_TTC19

check button Fusion gene summary
Fusion gene informationFusion gene name: TTC19_TTC19
Fusion gene ID: 39928
HgeneTgene
Gene symbol

TTC19

TTC19

Gene ID

54902

54902

Gene nametetratricopeptide repeat domain 19tetratricopeptide repeat domain 19
Synonyms2010204O13Rik|MC3DN22010204O13Rik|MC3DN2
Cytomap

17p12

17p12

Type of geneprotein-codingprotein-coding
Descriptiontetratricopeptide repeat protein 19, mitochondrialTPR repeat protein 19tetratricopeptide repeat protein 19, mitochondrialTPR repeat protein 19
Modification date2018052320180523
UniProtAcc

Q6DKK2

Q6DKK2

Ensembl transtripts involved in fusion geneENST00000261647, ENST00000486880, 
ENST00000497842, 
ENST00000261647, 
ENST00000486880, ENST00000497842, 
Fusion gene scores* DoF score5 X 4 X 4=804 X 4 X 2=32
# samples 55
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AK130773TTC19chr17

15922370

+TTC19chr17

15920083

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000261647ENST00000261647TTC19chr17

15922370

+TTC19chr17

15920083

+
intron-intronENST00000261647ENST00000486880TTC19chr17

15922370

+TTC19chr17

15920083

+
intron-intronENST00000261647ENST00000497842TTC19chr17

15922370

+TTC19chr17

15920083

+
intron-intronENST00000486880ENST00000261647TTC19chr17

15922370

+TTC19chr17

15920083

+
intron-intronENST00000486880ENST00000486880TTC19chr17

15922370

+TTC19chr17

15920083

+
intron-intronENST00000486880ENST00000497842TTC19chr17

15922370

+TTC19chr17

15920083

+
intron-intronENST00000497842ENST00000261647TTC19chr17

15922370

+TTC19chr17

15920083

+
intron-intronENST00000497842ENST00000486880TTC19chr17

15922370

+TTC19chr17

15920083

+
intron-intronENST00000497842ENST00000497842TTC19chr17

15922370

+TTC19chr17

15920083

+

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FusionProtFeatures for TTC19_TTC19


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TTC19

Q6DKK2

TTC19

Q6DKK2

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TTC19_TTC19


check button 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 TTC19_TTC19


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TTC19_TTC19


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TTC19_TTC19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTTC19C0021359Infertility1CTD_human
HgeneTTC19C0027765nervous system disorder1CTD_human
HgeneTTC19C0524851Neurodegenerative Disorders1CTD_human;HPO
HgeneTTC19C0751830Gait Disorders, Neurologic1CTD_human
TgeneTTC19C0021359Infertility1CTD_human
TgeneTTC19C0027765nervous system disorder1CTD_human
TgeneTTC19C0524851Neurodegenerative Disorders1CTD_human;HPO
TgeneTTC19C0751830Gait Disorders, Neurologic1CTD_human