FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 40001

FusionGeneSummary for TTC6_POLR3A

check button Fusion gene summary
Fusion gene informationFusion gene name: TTC6_POLR3A
Fusion gene ID: 40001
HgeneTgene
Gene symbol

TTC6

POLR3A

Gene ID

319089

11128

Gene nametetratricopeptide repeat domain 6RNA polymerase III subunit A
SynonymsC14orf25|NCRNA00291ADDH|HLD7|RPC1|RPC155|hRPC155
Cytomap

14q21.1

10q22.3

Type of geneprotein-codingprotein-coding
Descriptiontetratricopeptide repeat protein 6TPR repeat protein 6DNA-directed RNA polymerase III subunit RPC1DNA-directed RNA polymerase III largest subunitDNA-directed RNA polymerase III subunit ARNA polymerase III 155 kDa subunitRNA polymerase III subunit C1RNA polymerase III subunit C160RNA polymerase III subu
Modification date2018033120180523
UniProtAcc

Q86TZ1

O14802

Ensembl transtripts involved in fusion geneENST00000553443, ENST00000476979, 
ENST00000267368, ENST00000382320, 
ENST00000554555, 
ENST00000372371, 
ENST00000484760, 
Fusion gene scores* DoF score7 X 4 X 2=565 X 4 X 5=100
# samples 65
** MAII scorelog2(6/56*10)=0.0995356735509144
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TTC6 [Title/Abstract] AND POLR3A [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
TCGALDPRADTCGA-ZG-A9N3-01ATTC6chr14

38065213

+POLR3Achr10

79764646

-
* 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-3CDSENST00000553443ENST00000372371TTC6chr14

38065213

+POLR3Achr10

79764646

-
intron-intronENST00000553443ENST00000484760TTC6chr14

38065213

+POLR3Achr10

79764646

-
intron-3CDSENST00000476979ENST00000372371TTC6chr14

38065213

+POLR3Achr10

79764646

-
intron-intronENST00000476979ENST00000484760TTC6chr14

38065213

+POLR3Achr10

79764646

-
intron-3CDSENST00000267368ENST00000372371TTC6chr14

38065213

+POLR3Achr10

79764646

-
intron-intronENST00000267368ENST00000484760TTC6chr14

38065213

+POLR3Achr10

79764646

-
intron-3CDSENST00000382320ENST00000372371TTC6chr14

38065213

+POLR3Achr10

79764646

-
intron-intronENST00000382320ENST00000484760TTC6chr14

38065213

+POLR3Achr10

79764646

-
intron-3CDSENST00000554555ENST00000372371TTC6chr14

38065213

+POLR3Achr10

79764646

-
intron-intronENST00000554555ENST00000484760TTC6chr14

38065213

+POLR3Achr10

79764646

-

Top

FusionProtFeatures for TTC6_POLR3A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TTC6

Q86TZ1

POLR3A

O14802

DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Largest and catalytic core component of RNA polymeraseIII which synthesizes small RNAs, such as 5S rRNA and tRNAs. Formsthe polymerase active center together with the second largestsubunit. A single-stranded DNA template strand of the promoter ispositioned within the central active site cleft of Pol III. Abridging helix emanates from RPC1 and crosses the cleft near thecatalytic site and is thought to promote translocation of Pol IIIby acting as a ratchet that moves the RNA-DNA hybrid through theactive site by switching from straight to bent conformations ateach step of nucleotide addition (By similarity). Plays a key rolein sensing and limiting infection by intracellular bacteria andDNA viruses. Acts as nuclear and cytosolic DNA sensor involved ininnate immune response. Can sense non-self dsDNA that serves astemplate for transcription into dsRNA. The non-self RNA polymeraseIII transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs)induce type I interferon and NF- Kappa-B through the RIG-Ipathway. {ECO:0000250, ECO:0000269|PubMed:19609254,ECO:0000269|PubMed:19631370}.

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


Top

FusionGeneSequence for TTC6_POLR3A


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).

Top

FusionGenePPI for TTC6_POLR3A


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
TTC6POLR3APKP2, GTF2B, POLR3D, POLR3E, RAE1, GPN1, RPAP2, RPAP3, POLR3H, RPAP1, EWSR1, PCBD1, IKBKG, POLR2H, POLR2E, POLR3B, POLR1C, CRCP, POLR1D, POLR3C, POLR1A, SMARCA5, VPS18, NEDD4, ASB13, MAF1, GPN3, PIH1D1, PPP1CC, PPP1CA, SKAP1, PPP2R2C, EVA1C, GTF3C3, HDAC1, HDAC2, IPO9, MRPL17, MRPL22, MRPL24, MRPL54, MRPS7, POLR1B, POLR2A, MRPL11, MRPL2, POLR2B, LOC101060521, POLR3F, POLR3G, POLR3K, RPS5, SMARCA4, TSR1, TUFM, NTRK1, POLR2F, POLR3GL, UXT, ASB7, RUVBL1, CDH5, RUVBL2, ZNHIT2, SLC7A6OS, URI1, WDR92


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


Top

RelatedDrugs for TTC6_POLR3A


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

Top

RelatedDiseases for TTC6_POLR3A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePOLR3AC2676243Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism4ORPHANET;UNIPROT