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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:KDM5C-C1QBP (FusionGDB2 ID:41685) |
Fusion Gene Summary for KDM5C-C1QBP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KDM5C-C1QBP | Fusion gene ID: 41685 | Hgene | Tgene | Gene symbol | KDM5C | C1QBP | Gene ID | 8242 | 708 |
| Gene name | lysine demethylase 5C | complement C1q binding protein | |
| Synonyms | DXS1272E|JARID1C|MRX13|MRXJ|MRXSCJ|MRXSJ|SMCX|XE169 | COXPD33|GC1QBP|HABP1|SF2AP32|SF2p32|gC1Q-R|gC1qR|p32 | |
| Cytomap | Xp11.22 | 17p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lysine-specific demethylase 5CJmjC domain-containing protein SMCXJumonji, AT rich interactive domain 1C (RBP2-like)Jumonji/ARID domain-containing protein 1CSmcx homolog, X chromosomeSmcy homolog, X-linkedhistone demethylase JARID1Clysine (K)-specif | complement component 1 Q subcomponent-binding protein, mitochondrialASF/SF2-associated protein p32C1q globular domain-binding proteincomplement component 1, q subcomponent binding proteinglycoprotein gC1qBPhyaluronan-binding protein 1mitochondrial m | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | P41229 | Q07021 | |
| Ensembl transtripts involved in fusion gene | ENST00000452825, ENST00000375401, ENST00000404049, ENST00000375379, ENST00000375383, ENST00000465402, | ENST00000225698, ENST00000574444, | |
| Fusion gene scores | * DoF score | 17 X 19 X 7=2261 | 7 X 6 X 3=126 |
| # samples | 18 | 9 | |
| ** MAII score | log2(18/2261*10)=-3.65089218042185 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/126*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KDM5C [Title/Abstract] AND C1QBP [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | KDM5C(53221850)-C1QBP(5337043), # 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | KDM5C | GO:0034720 | histone H3-K4 demethylation | 17320160 |
| Tgene | C1QBP | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15243141 |
| Tgene | C1QBP | GO:0030449 | regulation of complement activation | 8195709 |
| Tgene | C1QBP | GO:0032689 | negative regulation of interferon-gamma production | 17881511 |
| Tgene | C1QBP | GO:0032695 | negative regulation of interleukin-12 production | 16177118|17881511 |
| Tgene | C1QBP | GO:0039534 | negative regulation of MDA-5 signaling pathway | 19164550 |
| Tgene | C1QBP | GO:0039536 | negative regulation of RIG-I signaling pathway | 19164550 |
| Tgene | C1QBP | GO:0048025 | negative regulation of mRNA splicing, via spliceosome | 10022843 |
| Tgene | C1QBP | GO:0090023 | positive regulation of neutrophil chemotaxis | 9461517 |
| Fusion gene breakpoints across KDM5C (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across C1QBP (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 |
| ChiTaRS5.0 | N/A | BQ323647 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
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Fusion Gene ORF analysis for KDM5C-C1QBP |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000452825 | ENST00000225698 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000452825 | ENST00000574444 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000375401 | ENST00000225698 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000375401 | ENST00000574444 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000404049 | ENST00000225698 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000404049 | ENST00000574444 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000375379 | ENST00000225698 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000375379 | ENST00000574444 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000375383 | ENST00000225698 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000375383 | ENST00000574444 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000465402 | ENST00000225698 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| intron-3CDS | ENST00000465402 | ENST00000574444 | KDM5C | chrX | 53221850 | + | C1QBP | chr17 | 5337043 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for KDM5C-C1QBP |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for KDM5C-C1QBP |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KDM5C | C1QBP |
| FUNCTION: Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:28262558). Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity). {ECO:0000250|UniProtKB:P41230, ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17320161, ECO:0000269|PubMed:17468742, ECO:0000269|PubMed:26645689, ECO:0000269|PubMed:28262558}. | FUNCTION: Is believed to be a multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular 'heads' of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway. Required for protein synthesis in mitochondria (PubMed:28942965). In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity. May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by inhibiting DDX58- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection. {ECO:0000269|PubMed:10022843, ECO:0000269|PubMed:10479529, ECO:0000269|PubMed:10722602, ECO:0000269|PubMed:11086025, ECO:0000269|PubMed:11859136, ECO:0000269|PubMed:15243141, ECO:0000269|PubMed:16140380, ECO:0000269|PubMed:16177118, ECO:0000269|PubMed:17881511, ECO:0000269|PubMed:18676636, ECO:0000269|PubMed:19004836, ECO:0000269|PubMed:19164550, ECO:0000269|PubMed:20810993, ECO:0000269|PubMed:21536856, ECO:0000269|PubMed:21544310, ECO:0000269|PubMed:22700724, ECO:0000269|PubMed:28942965, ECO:0000269|PubMed:8662673, ECO:0000269|PubMed:8710908, ECO:0000269|PubMed:9461517}.; FUNCTION: (Microbial infection) Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA. {ECO:0000269|PubMed:12833064}.; FUNCTION: (Microbial infection) In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B (InlB) and Staphylococcus aureus protein A. {ECO:0000269|PubMed:10722602, ECO:0000269|PubMed:10747014, ECO:0000269|PubMed:12411480}.; FUNCTION: (Microbial infection) Involved in replication of Rubella virus. {ECO:0000269|PubMed:12034482}. |
| Retention 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 * 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 KDM5C-C1QBP |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for KDM5C-C1QBP |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for KDM5C-C1QBP |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | C1QBP | Q07021 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Tgene | C1QBP | Q07021 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Tgene | C1QBP | Q07021 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Tgene | C1QBP | Q07021 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Tgene | C1QBP | Q07021 | DB08818 | Hyaluronic acid | Binder | Small molecule | Approved|Vet_approved |
| Tgene | C1QBP | Q07021 | DB08818 | Hyaluronic acid | Binder | Small molecule | Approved|Vet_approved |
| Tgene | C1QBP | Q07021 | DB08818 | Hyaluronic acid | Binder | Small molecule | Approved|Vet_approved |
| Tgene | C1QBP | Q07021 | DB08818 | Hyaluronic acid | Binder | Small molecule | Approved|Vet_approved |
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Related Diseases for KDM5C-C1QBP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KDM5C | C1845243 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | 10 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | KDM5C | C0796250 | PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME | 3 | CLINGEN |
| Hgene | KDM5C | C3714756 | Intellectual Disability | 3 | CTD_human;GENOMICS_ENGLAND |
| Hgene | KDM5C | C0014544 | Epilepsy | 2 | GENOMICS_ENGLAND |
| Hgene | KDM5C | C0020676 | Hypothyroidism | 2 | GENOMICS_ENGLAND |
| Hgene | KDM5C | C0424605 | Developmental delay (disorder) | 2 | GENOMICS_ENGLAND |
| Hgene | KDM5C | C0557874 | Global developmental delay | 2 | GENOMICS_ENGLAND |
| Hgene | KDM5C | C1859520 | Progressive spasticity | 2 | GENOMICS_ENGLAND |
| Hgene | KDM5C | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | KDM5C | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | KDM5C | C0020796 | Profound Mental Retardation | 1 | CTD_human |
| Hgene | KDM5C | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
| Hgene | KDM5C | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CGI;CTD_human |
| Hgene | KDM5C | C0917816 | Mental deficiency | 1 | CTD_human |
| Hgene | KDM5C | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | KDM5C | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | KDM5C | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
| Hgene | KDM5C | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | C1QBP | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
| Tgene | C1QBP | C0678222 | Breast Carcinoma | 1 | CTD_human |
| Tgene | C1QBP | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Tgene | C1QBP | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | C1QBP | C4540209 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 | 1 | GENOMICS_ENGLAND;UNIPROT |
| Tgene | C1QBP | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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