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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: 15658

FusionGeneSummary for GTF3C1_MKI67

check button Fusion gene summary
Fusion gene informationFusion gene name: GTF3C1_MKI67
Fusion gene ID: 15658
HgeneTgene
Gene symbol

GTF3C1

MKI67

Gene ID

2975

4288

Gene namegeneral transcription factor IIIC subunit 1marker of proliferation Ki-67
SynonymsTFIIIC|TFIIIC220|TFIIICalphaKIA|MIB-|MIB-1|PPP1R105
Cytomap

16p12.1

10q26.2

Type of geneprotein-codingprotein-coding
Descriptiongeneral transcription factor 3C polypeptide 1TF3C-alphaTFIIIC 220 kDa subunitTFIIIC box B-binding subunitgeneral transcription factor IIIC, polypeptide 1 (alpha subunit)general transcription factor IIIC, polypeptide 1, alpha 220kDatranscription factproliferation marker protein Ki-67antigen Ki67antigen identified by monoclonal antibody Ki-67proliferation-related Ki-67 antigenprotein phosphatase 1, regulatory subunit 105
Modification date2018052320180527
UniProtAcc

Q12789

P46013

Ensembl transtripts involved in fusion geneENST00000561623, ENST00000356183, 
ENST00000567806, 
ENST00000368653, 
ENST00000368654, ENST00000484853, 
Fusion gene scores* DoF score2 X 2 X 1=42 X 3 X 1=6
# samples 23
** MAII scorelog2(2/4*10)=2.32192809488736log2(3/6*10)=2.32192809488736
Context

PubMed: GTF3C1 [Title/Abstract] AND MKI67 [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
TgeneMKI67

GO:0007088

regulation of mitotic nuclear division

27362226

TgeneMKI67

GO:0051983

regulation of chromosome segregation

27362226


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
ChiTaRS3.1BE840900GTF3C1chr16

27503707

+MKI67chr10

129903454

+
* 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-3CDSENST00000561623ENST00000368653GTF3C1chr16

27503707

+MKI67chr10

129903454

+
intron-3CDSENST00000561623ENST00000368654GTF3C1chr16

27503707

+MKI67chr10

129903454

+
intron-intronENST00000561623ENST00000484853GTF3C1chr16

27503707

+MKI67chr10

129903454

+
intron-3CDSENST00000356183ENST00000368653GTF3C1chr16

27503707

+MKI67chr10

129903454

+
intron-3CDSENST00000356183ENST00000368654GTF3C1chr16

27503707

+MKI67chr10

129903454

+
intron-intronENST00000356183ENST00000484853GTF3C1chr16

27503707

+MKI67chr10

129903454

+
intron-3CDSENST00000567806ENST00000368653GTF3C1chr16

27503707

+MKI67chr10

129903454

+
intron-3CDSENST00000567806ENST00000368654GTF3C1chr16

27503707

+MKI67chr10

129903454

+
intron-intronENST00000567806ENST00000484853GTF3C1chr16

27503707

+MKI67chr10

129903454

+

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FusionProtFeatures for GTF3C1_MKI67


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GTF3C1

Q12789

MKI67

P46013

Required for RNA polymerase III-mediated transcription.Component of TFIIIC that initiates transcription complex assemblyon tRNA and is required for transcription of 5S rRNA and otherstable nuclear and cytoplasmic RNAs. Binds to the box B promoterelement. Required to maintain individual mitotic chromosomesdispersed in the cytoplasm following nuclear envelope disassembly(PubMed:27362226). Associates with the surface of the mitoticchromosome, the perichromosomal layer, and covers a substantialfraction of the chromosome surface (PubMed:27362226). Preventschromosomes from collapsing into a single chromatin mass byforming a steric and electrostatic charge barrier: the protein hasa high net electrical charge and acts as a surfactant, dispersingchromosomes and enabling independent chromosome motility(PubMed:27362226). Binds DNA, with a preference for supercoiledDNA and AT-rich DNA (PubMed:10878551). Does not contribute to theinternal structure of mitotic chromosomes (By similarity). Mayplay a role in chromatin organization (PubMed:24867636). It ishowever unclear whether it plays a direct role in chromatinorganization or whether it is an indirect consequence of itsfunction in maintaining mitotic chromosomes dispersed (Probable).{ECO:0000250|UniProtKB:E9PVX6, ECO:0000269|PubMed:10878551,ECO:0000269|PubMed:24867636, ECO:0000269|PubMed:27362226}.

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 GTF3C1_MKI67


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 GTF3C1_MKI67


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 GTF3C1_MKI67


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 GTF3C1_MKI67


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMKI67C1458155Mammary Neoplasms3CTD_human
TgeneMKI67C0001418Adenocarcinoma1CTD_human
TgeneMKI67C0009375Colonic Neoplasms1CTD_human
TgeneMKI67C0009404Colorectal Neoplasms1CTD_human
TgeneMKI67C0019189Hepatitis, Chronic1CTD_human
TgeneMKI67C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMKI67C0031117Peripheral Neuropathy1CTD_human
TgeneMKI67C0033860Psoriasis1CTD_human
TgeneMKI67C0206637Chondrosarcoma, Mesenchymal1CTD_human
TgeneMKI67C0919267ovarian neoplasm1CTD_human
TgeneMKI67C1876165Copper-Overload Cirrhosis1CTD_human