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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:C19orf48-MKI67 (FusionGDB2 ID:HG84798TG4288) |
Fusion Gene Summary for C19orf48-MKI67 |
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Fusion gene information | Fusion gene name: C19orf48-MKI67 | Fusion gene ID: hg84798tg4288 | Hgene | Tgene | Gene symbol | C19orf48 | MKI67 | Gene ID | 84798 | 4288 |
Gene name | chromosome 19 open reading frame 48 | marker of proliferation Ki-67 | |
Synonyms | - | KIA|MIB-|MIB-1|PPP1R105 | |
Cytomap | ('C19orf48')('MKI67') 19q13.33 | 10q26.2 | |
Type of gene | protein-coding | protein-coding | |
Description | uncharacterized protein C19orf48multidrug resistance-related protein | proliferation marker protein Ki-67antigen Ki67antigen identified by monoclonal antibody Ki-67proliferation-related Ki-67 antigenprotein phosphatase 1, regulatory subunit 105 | |
Modification date | 20200320 | 20200329 | |
UniProtAcc | Q6RUI8 | P46013 | |
Ensembl transtripts involved in fusion gene | ENST00000345523, ENST00000391812, ENST00000595794, ENST00000596655, ENST00000598463, | ||
Fusion gene scores | * DoF score | 12 X 11 X 5=660 | 7 X 4 X 3=84 |
# samples | 15 | 8 | |
** MAII score | log2(15/660*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/84*10)=-0.070389327891398 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: C19orf48 [Title/Abstract] AND MKI67 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | C19orf48(51305474)-MKI67(129917583), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | MKI67 | GO:0007088 | regulation of mitotic nuclear division | 27362226 |
Tgene | MKI67 | GO:0051983 | regulation of chromosome segregation | 27362226 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-CG-5724-01A | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
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Fusion Gene ORF analysis for C19orf48-MKI67 |
![]() * 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 |
5UTR-3CDS | ENST00000345523 | ENST00000368653 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-3CDS | ENST00000345523 | ENST00000368654 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-3CDS | ENST00000391812 | ENST00000368653 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-3CDS | ENST00000391812 | ENST00000368654 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-3CDS | ENST00000595794 | ENST00000368653 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-3CDS | ENST00000595794 | ENST00000368654 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-3CDS | ENST00000596655 | ENST00000368653 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-3CDS | ENST00000596655 | ENST00000368654 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-3CDS | ENST00000598463 | ENST00000368653 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-3CDS | ENST00000598463 | ENST00000368654 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-intron | ENST00000345523 | ENST00000484853 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-intron | ENST00000391812 | ENST00000484853 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-intron | ENST00000595794 | ENST00000484853 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-intron | ENST00000596655 | ENST00000484853 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
5UTR-intron | ENST00000598463 | ENST00000484853 | C19orf48 | chr19 | 51305474 | - | MKI67 | chr10 | 129917583 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for C19orf48-MKI67 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for C19orf48-MKI67 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:51305474/:129917583) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
C19orf48 | MKI67 |
FUNCTION: Required to maintain individual mitotic chromosomes dispersed in the cytoplasm following nuclear envelope disassembly (PubMed:27362226). Associates with the surface of the mitotic chromosome, the perichromosomal layer, and covers a substantial fraction of the chromosome surface (PubMed:27362226). Prevents chromosomes from collapsing into a single chromatin mass by forming a steric and electrostatic charge barrier: the protein has a high net electrical charge and acts as a surfactant, dispersing chromosomes and enabling independent chromosome motility (PubMed:27362226). Binds DNA, with a preference for supercoiled DNA and AT-rich DNA (PubMed:10878551). Does not contribute to the internal structure of mitotic chromosomes (By similarity). May play a role in chromatin organization (PubMed:24867636). It is however unclear whether it plays a direct role in chromatin organization or whether it is an indirect consequence of its function in maintaining mitotic chromosomes dispersed (Probable). {ECO:0000250|UniProtKB:E9PVX6, ECO:0000269|PubMed:10878551, ECO:0000269|PubMed:24867636, ECO:0000269|PubMed:27362226}. |
![]() * 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 |
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Fusion Gene Sequence for C19orf48-MKI67 |
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Fusion Gene PPI Analysis for C19orf48-MKI67 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for C19orf48-MKI67 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for C19orf48-MKI67 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0006142 | Malignant neoplasm of breast | 3 | CTD_human | |
Tgene | C0678222 | Breast Carcinoma | 3 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 3 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 3 | CTD_human | |
Tgene | C4704874 | Mammary Carcinoma, Human | 3 | CTD_human | |
Tgene | C0001418 | Adenocarcinoma | 1 | CTD_human | |
Tgene | C0007102 | Malignant tumor of colon | 1 | CTD_human | |
Tgene | C0009375 | Colonic Neoplasms | 1 | CTD_human | |
Tgene | C0009402 | Colorectal Carcinoma | 1 | CTD_human | |
Tgene | C0009404 | Colorectal Neoplasms | 1 | CTD_human | |
Tgene | C0019189 | Hepatitis, Chronic | 1 | CTD_human | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C0030246 | Pustulosis of Palms and Soles | 1 | CTD_human | |
Tgene | C0033860 | Psoriasis | 1 | CTD_human | |
Tgene | C0149519 | Chronic Persistent Hepatitis | 1 | CTD_human | |
Tgene | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human | |
Tgene | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human | |
Tgene | C0205643 | Carcinoma, Cribriform | 1 | CTD_human | |
Tgene | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human | |
Tgene | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human | |
Tgene | C0206637 | Mesenchymal Chondrosarcoma | 1 | CTD_human | |
Tgene | C0235874 | Disease Exacerbation | 1 | CTD_human | |
Tgene | C0520463 | Chronic active hepatitis | 1 | CTD_human | |
Tgene | C0524611 | Cryptogenic Chronic Hepatitis | 1 | CTD_human | |
Tgene | C0919267 | ovarian neoplasm | 1 | CTD_human | |
Tgene | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human | |
Tgene | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 1 | CTD_human | |
Tgene | C4721453 | Peripheral Nervous System Diseases | 1 | CTD_human |