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Fusion gene ID: 7911 |
FusionGeneSummary for COL25A1_CCDC109B |
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Fusion gene information | Fusion gene name: COL25A1_CCDC109B | Fusion gene ID: 7911 | Hgene | Tgene | Gene symbol | COL25A1 | CCDC109B | Gene ID | 84570 | 55013 |
Gene name | collagen type XXV alpha 1 chain | mitochondrial calcium uniporter dominant negative beta subunit | |
Synonyms | AMY|CFEOM5|CLAC|CLAC-P|CLACP | CCDC109B | |
Cytomap | 4q25 | 4q25 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(XXV) chainalzheimer disease amyloid-associated proteincollagen-like Alzheimer amyloid plaque componentcollagenous Alzheimer amyloid plaque component | calcium uniporter regulatory subunit MCUb, mitochondrialcoiled-coil domain containing 109Bcoiled-coil domain-containing protein 109Bmitochondrial calcium uniporter regulatory subunit MCUb | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9BXS0 | ||
Ensembl transtripts involved in fusion gene | ENST00000399132, ENST00000399127, ENST00000399126, | ENST00000394650, ENST00000515114, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
# samples | 1 | 1 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: COL25A1 [Title/Abstract] AND CCDC109B [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | BRCA | TCGA-A2-A0CL-01A | COL25A1 | chr4 | 109762851 | - | CCDC109B | chr4 | 110569640 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5CDS-intron | ENST00000399132 | ENST00000394650 | COL25A1 | chr4 | 109762851 | - | CCDC109B | chr4 | 110569640 | + |
5CDS-intron | ENST00000399132 | ENST00000515114 | COL25A1 | chr4 | 109762851 | - | CCDC109B | chr4 | 110569640 | + |
5CDS-intron | ENST00000399127 | ENST00000394650 | COL25A1 | chr4 | 109762851 | - | CCDC109B | chr4 | 110569640 | + |
5CDS-intron | ENST00000399127 | ENST00000515114 | COL25A1 | chr4 | 109762851 | - | CCDC109B | chr4 | 110569640 | + |
5CDS-intron | ENST00000399126 | ENST00000394650 | COL25A1 | chr4 | 109762851 | - | CCDC109B | chr4 | 110569640 | + |
5CDS-intron | ENST00000399126 | ENST00000515114 | COL25A1 | chr4 | 109762851 | - | CCDC109B | chr4 | 110569640 | + |
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FusionProtFeatures for COL25A1_CCDC109B |
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Hgene | Tgene |
COL25A1 | CCDC109B |
Inhibits fibrillization of amyloid-beta peptide duringthe elongation phase. Has also been shown to assemble amyloidfibrils into protease-resistant aggregates. Binds heparin.{ECO:0000269|PubMed:15522881, ECO:0000269|PubMed:15615705,ECO:0000269|PubMed:15853808, ECO:0000269|PubMed:16300410}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
![]() * 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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FusionGeneSequence for COL25A1_CCDC109B |
![]() (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 COL25A1_CCDC109B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
COL25A1 | APP, COL25A1, PLOD1 | CCDC109B | ZBTB16, GNAI2, TXNDC15, SETDB1, FAF2, ASPH, APLNR, MRPL12 |
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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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RelatedDrugs for COL25A1_CCDC109B |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for COL25A1_CCDC109B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL25A1 | C4015552 | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 | 1 | UNIPROT |