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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: 39927

FusionGeneSummary for TTC19_TOM1L2

check button Fusion gene summary
Fusion gene informationFusion gene name: TTC19_TOM1L2
Fusion gene ID: 39927
HgeneTgene
Gene symbol

TTC19

TOM1L2

Gene ID

54902

146691

Gene nametetratricopeptide repeat domain 19target of myb1 like 2 membrane trafficking protein
Synonyms2010204O13Rik|MC3DN2-
Cytomap

17p12

17p11.2

Type of geneprotein-codingprotein-coding
Descriptiontetratricopeptide repeat protein 19, mitochondrialTPR repeat protein 19TOM1-like protein 2target of Myb-like protein 2target of myb1-like 2
Modification date2018052320180519
UniProtAcc

Q6DKK2

Q6ZVM7

Ensembl transtripts involved in fusion geneENST00000261647, ENST00000486880, 
ENST00000497842, 
ENST00000581396, 
ENST00000379504, ENST00000318094, 
ENST00000395739, ENST00000535933, 
ENST00000540946, ENST00000542206, 
ENST00000478943, ENST00000577517, 
Fusion gene scores* DoF score5 X 4 X 4=806 X 5 X 4=120
# samples 56
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TTC19 [Title/Abstract] AND TOM1L2 [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
TgeneTOM1L2

GO:0007165

signal transduction

16479011

TgeneTOM1L2

GO:0045839

negative regulation of mitotic nuclear division

16479011


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
TCGARVBRCATCGA-AC-A2FO-01ATTC19chr17

15930016

+TOM1L2chr17

17797124

-
* 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
5CDS-intronENST00000261647ENST00000581396TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000261647ENST00000379504TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000261647ENST00000318094TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000261647ENST00000395739TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000261647ENST00000535933TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000261647ENST00000540946TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000261647ENST00000542206TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000261647ENST00000478943TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000261647ENST00000577517TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000486880ENST00000581396TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000486880ENST00000379504TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000486880ENST00000318094TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000486880ENST00000395739TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000486880ENST00000535933TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000486880ENST00000540946TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000486880ENST00000542206TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000486880ENST00000478943TTC19chr17

15930016

+TOM1L2chr17

17797124

-
5CDS-intronENST00000486880ENST00000577517TTC19chr17

15930016

+TOM1L2chr17

17797124

-
3UTR-intronENST00000497842ENST00000581396TTC19chr17

15930016

+TOM1L2chr17

17797124

-
3UTR-intronENST00000497842ENST00000379504TTC19chr17

15930016

+TOM1L2chr17

17797124

-
3UTR-intronENST00000497842ENST00000318094TTC19chr17

15930016

+TOM1L2chr17

17797124

-
3UTR-intronENST00000497842ENST00000395739TTC19chr17

15930016

+TOM1L2chr17

17797124

-
3UTR-intronENST00000497842ENST00000535933TTC19chr17

15930016

+TOM1L2chr17

17797124

-
3UTR-intronENST00000497842ENST00000540946TTC19chr17

15930016

+TOM1L2chr17

17797124

-
3UTR-intronENST00000497842ENST00000542206TTC19chr17

15930016

+TOM1L2chr17

17797124

-
3UTR-intronENST00000497842ENST00000478943TTC19chr17

15930016

+TOM1L2chr17

17797124

-
3UTR-intronENST00000497842ENST00000577517TTC19chr17

15930016

+TOM1L2chr17

17797124

-

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FusionProtFeatures for TTC19_TOM1L2


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

Q6DKK2

TOM1L2

Q6ZVM7

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}. Probable role in protein transport. May regulate growthfactor-induced mitogenic signaling. {ECO:0000269|PubMed:16412388,ECO:0000269|PubMed:16479011}.

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_TOM1L2


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_TOM1L2


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
TTC19UPF3B, 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, TRIM25TOM1L2TOLLIP, NEDD4, CLTC, APP, AHCYL1, LAGE3, IGBP1, SULT1A1, RCN1, SIN3A, S100A4, DSTN, DFFA, UBA2, S100A6, SRXN1, SERPINH1, UBC, LAPTM5, RNF11, MYO6, BAG3, MAP3K1, AGL, XPO1, SMURF1, CUEDC1, SZRD1, NDUFA6, WBP2


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_TOM1L2


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_TOM1L2


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