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Fusion Protein:ITPR2-DDX11 |
Fusion Gene and Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: ITPR2-DDX11 | FusionPDB ID: 40696 | FusionGDB2.0 ID: 40696 | Hgene | Tgene | Gene symbol | ITPR2 | DDX11 | Gene ID | 3709 | 1663 |
Gene name | inositol 1,4,5-trisphosphate receptor type 2 | DEAD/H-box helicase 11 | |
Synonyms | ANHD|CFAP48|INSP3R2|IP3R2 | CHL1|CHLR1|KRG2|WABS | |
Cytomap | 12p11.23 | 12p11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | inositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptor | ATP-dependent DNA helicase DDX11CHL1-like helicase homologCHL1-related helicase gene-1CHL1-related protein 1DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)DEAD/H | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q14571 Main function of 5'-partner protein: FUNCTION: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). {ECO:0000250|UniProtKB:Q9Z329}. | Q96FC9 Main function of 5'-partner protein: FUNCTION: DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction (PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Shows also ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Cooperates also with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5'-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Plays also a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:9013641, PubMed:18499658, PubMed:22102414). {ECO:0000250|UniProtKB:Q6AXC6, ECO:0000269|PubMed:10648783, ECO:0000269|PubMed:17105772, ECO:0000269|PubMed:18499658, ECO:0000269|PubMed:20124417, ECO:0000269|PubMed:21854770, ECO:0000269|PubMed:22102414, ECO:0000269|PubMed:23116066, ECO:0000269|PubMed:23797032, ECO:0000269|PubMed:26089203, ECO:0000269|PubMed:26503245, ECO:0000269|PubMed:27477908}.; FUNCTION: (Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segregated. {ECO:0000269|PubMed:17189189}. | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000381340, ENST00000242737, ENST00000545902, | ENST00000228264, ENST00000251758, ENST00000350437, ENST00000407793, ENST00000545668, ENST00000539673, ENST00000542838, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 21 X 18 X 10=3780 | 1 X 1 X 1=1 |
# samples | 23 | 1 | |
** MAII score | log2(23/3780*10)=-4.03868046816406 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Fusion gene context | PubMed: ITPR2 [Title/Abstract] AND DDX11 [Title/Abstract] AND fusion [Title/Abstract] | ||
Fusion neoantigen context | PubMed: ITPR2 [Title/Abstract] AND DDX11 [Title/Abstract] AND neoantigen [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ITPR2(26774056)-DDX11(31256251), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ITPR2-DDX11 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ITPR2-DDX11 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ITPR2-DDX11 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ITPR2-DDX11 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 |
Hgene | ITPR2 | GO:0001666 | response to hypoxia | 19120137 |
Tgene | DDX11 | GO:0007062 | sister chromatid cohesion | 17105772 |
Tgene | DDX11 | GO:0032079 | positive regulation of endodeoxyribonuclease activity | 18499658 |
Tgene | DDX11 | GO:0032508 | DNA duplex unwinding | 10648783|18499658|26503245 |
Tgene | DDX11 | GO:0035563 | positive regulation of chromatin binding | 26089203 |
Tgene | DDX11 | GO:0044806 | G-quadruplex DNA unwinding | 26503245 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:26774056/chr12:31256251) - 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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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Amino Acid Sequences |
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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) |
ENST00000381340 | ITPR2 | chr12 | 26774056 | - | ENST00000542838 | DDX11 | chr12 | 31256251 | + | 4250 | 3879 | 417 | 4142 | 1241 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000381340 | ENST00000542838 | ITPR2 | chr12 | 26774056 | - | DDX11 | chr12 | 31256251 | + | 0.002112068 | 0.9978879 |
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Get the fusion protein sequences from here. |
Fusion protein sequence information is available in the fasta format. >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP |
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Fusion Protein Breakpoint Sequences for ITPR2-DDX11 |
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Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
ITPR2 | chr12 | 26774056 | DDX11 | chr12 | 31256251 | 3879 | 1154 | GESQVKGGEEPIEPRAPGQAPPGKAL |
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Potential FusionNeoAntigen Information of ITPR2-DDX11 in HLA I |
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ITPR2-DDX11_26774056_31256251.msa |
![]() * We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5) |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA I | FusionNeoAntigen peptide | Binding score | Immunogenic score | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B45:01 | GEEPIEPRA | 0.9989 | 0.9334 | 7 | 16 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B50:02 | GEEPIEPRA | 0.9975 | 0.7908 | 7 | 16 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B56:01 | EPRAPGQAP | 0.8717 | 0.5072 | 12 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B41:01 | GEEPIEPRA | 0.5059 | 0.9625 | 7 | 16 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B50:01 | GEEPIEPRA | 0.3696 | 0.8716 | 7 | 16 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B45:01 | GEEPIEPRAP | 0.9962 | 0.9467 | 7 | 17 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B50:02 | GEEPIEPRAP | 0.9871 | 0.7915 | 7 | 17 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B41:01 | GEEPIEPRAP | 0.9554 | 0.9702 | 7 | 17 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B50:02 | IEPRAPGQAP | 0.9352 | 0.5074 | 11 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B50:01 | IEPRAPGQAP | 0.7888 | 0.6827 | 11 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B56:01 | EPIEPRAPGQA | 0.9805 | 0.6137 | 9 | 20 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B40:06 | GEEPIEPRA | 0.9986 | 0.9084 | 7 | 16 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B54:01 | EPRAPGQAP | 0.9357 | 0.7874 | 12 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B78:01 | EPRAPGQAP | 0.3436 | 0.6657 | 12 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B54:01 | EPIEPRAPGQA | 0.9972 | 0.8286 | 9 | 20 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B56:05 | EPRAPGQA | 0.9751 | 0.5086 | 12 | 20 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B55:02 | EPRAPGQAP | 0.8591 | 0.6317 | 12 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B56:05 | EPRAPGQAP | 0.7703 | 0.6264 | 12 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B50:04 | GEEPIEPRA | 0.3696 | 0.8716 | 7 | 16 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B50:05 | GEEPIEPRA | 0.3696 | 0.8716 | 7 | 16 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B78:02 | EPRAPGQAP | 0.2252 | 0.7444 | 12 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B56:05 | IEPRAPGQAP | 0.9118 | 0.6504 | 11 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B50:05 | IEPRAPGQAP | 0.7888 | 0.6827 | 11 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B50:04 | IEPRAPGQAP | 0.7888 | 0.6827 | 11 | 21 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B55:02 | EPIEPRAPGQA | 0.9879 | 0.737 | 9 | 20 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | HLA-B56:05 | EPIEPRAPGQA | 0.982 | 0.7415 | 9 | 20 |
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Potential FusionNeoAntigen Information of ITPR2-DDX11 in HLA II |
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ITPR2-DDX11_26774056_31256251.msa |
![]() * We used NetMHCIIpan v4.1 (%rank<0.5). |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA II | FusionNeoAntigen peptide | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | DRB1-0804 | EEPIEPRAPGQAPPG | 8 | 23 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | DRB1-0804 | GEEPIEPRAPGQAPP | 7 | 22 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | DRB1-0828 | EEPIEPRAPGQAPPG | 8 | 23 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | DRB1-1167 | EEPIEPRAPGQAPPG | 8 | 23 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | DRB1-1415 | EEPIEPRAPGQAPPG | 8 | 23 |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 | DRB1-1415 | GEEPIEPRAPGQAPP | 7 | 22 |
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Fusion breakpoint peptide structures of ITPR2-DDX11 |
![]() * The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA. |
File name | BPseq | Hgene | Tgene | Hchr | Hbp | Tchr | Tbp | AAlen |
2800 | GGEEPIEPRAPGQA | ITPR2 | DDX11 | chr12 | 26774056 | chr12 | 31256251 | 3879 |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ITPR2-DDX11 |
![]() * We used Glide to predict the interaction between HLAs and neoantigens. |
HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
HLA-B14:02 | 3BVN | 2800 | GGEEPIEPRAPGQA | -7.02924 | -7.14264 |
HLA-B14:02 | 3BVN | 2800 | GGEEPIEPRAPGQA | -3.38077 | -4.41607 |
HLA-B52:01 | 3W39 | 2800 | GGEEPIEPRAPGQA | -6.41355 | -6.52695 |
HLA-B52:01 | 3W39 | 2800 | GGEEPIEPRAPGQA | -4.44188 | -5.47718 |
HLA-A24:02 | 5HGA | 2800 | GGEEPIEPRAPGQA | -7.76595 | -8.80125 |
HLA-A24:02 | 5HGA | 2800 | GGEEPIEPRAPGQA | -7.30892 | -7.42232 |
HLA-B44:05 | 3DX8 | 2800 | GGEEPIEPRAPGQA | -5.65486 | -5.76826 |
HLA-B44:05 | 3DX8 | 2800 | GGEEPIEPRAPGQA | -2.95775 | -3.99305 |
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Vaccine Design for the FusionNeoAntigens of ITPR2-DDX11 |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 11 | 21 | IEPRAPGQAP | ATTGAGCCCAGAGCCCCCGGCCAGGCACCC |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 12 | 20 | EPRAPGQA | GAGCCCAGAGCCCCCGGCCAGGCA |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 12 | 21 | EPRAPGQAP | GAGCCCAGAGCCCCCGGCCAGGCACCC |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 7 | 16 | GEEPIEPRA | GGTGAAGAGCCAATTGAGCCCAGAGCC |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 7 | 17 | GEEPIEPRAP | GGTGAAGAGCCAATTGAGCCCAGAGCCCCC |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 9 | 20 | EPIEPRAPGQA | GAGCCAATTGAGCCCAGAGCCCCCGGCCAGGCA |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide | FusionNEoAntigen RNA sequence |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 7 | 22 | GEEPIEPRAPGQAPP | GGTGAAGAGCCAATTGAGCCCAGAGCCCCCGGCCAGGCACCCCCA |
ITPR2-DDX11 | chr12 | 26774056 | chr12 | 31256251 | 8 | 23 | EEPIEPRAPGQAPPG | GAAGAGCCAATTGAGCCCAGAGCCCCCGGCCAGGCACCCCCAGGG |
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Information of the samples that have these potential fusion neoantigens of ITPR2-DDX11 |
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Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
LIHC | ITPR2-DDX11 | chr12 | 26774056 | ENST00000381340 | chr12 | 31256251 | ENST00000542838 | TCGA-DD-A4NH-01A |
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Potential target of CAR-T therapy development for ITPR2-DDX11 |
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![]() * Minus value of BPloci means that the break point is located before the CDS. |
- In-frame and retained 'Transmembrane'. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
![]() * We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image. |
Hgene | Hchr | Hbp | Henst | Tgene | Tchr | Tbp | Tenst | DeepLoc result |
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Related Drugs to ITPR2-DDX11 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ITPR2-DDX11 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ITPR2 | C0003132 | Anoxic Encephalopathy | 1 | CTD_human |
Hgene | ITPR2 | C0018800 | Cardiomegaly | 1 | CTD_human |
Hgene | ITPR2 | C0995195 | Anoxia of brain | 1 | CTD_human |
Hgene | ITPR2 | C1140716 | Hypoxic Brain Damage | 1 | CTD_human |
Hgene | ITPR2 | C1383860 | Cardiac Hypertrophy | 1 | CTD_human |
Hgene | ITPR2 | C1527348 | Brain Hypoxia | 1 | CTD_human |
Hgene | ITPR2 | C1862871 | ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS | 1 | CTD_human;ORPHANET;UNIPROT |