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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:PDE8A-CIB1 (FusionGDB2 ID:63396) |
Fusion Gene Summary for PDE8A-CIB1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PDE8A-CIB1 | Fusion gene ID: 63396 | Hgene | Tgene | Gene symbol | PDE8A | CIB1 | Gene ID | 5151 | 10519 |
Gene name | phosphodiesterase 8A | calcium and integrin binding 1 | |
Synonyms | HsT19550 | CIB|CIBP|KIP1|PRKDCIP|SIP2-28 | |
Cytomap | 15q25.3 | 15q26.1 | |
Type of gene | protein-coding | protein-coding | |
Description | high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8AcAMP-specific cyclic nucleotide phosphodiesterase 8A | calcium and integrin-binding protein 1DNA-PK interaction proteinDNA-PKcs-interacting proteinDNA-dependent protein kinase interacting proteinSNK-interacting protein 2-28calcium and integrin binding 1 (calmyrin)testicular secretory protein Li 9 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q99828 | |
Ensembl transtripts involved in fusion gene | ENST00000310298, ENST00000557957, ENST00000394553, ENST00000339708, ENST00000557819, | ENST00000328649, | |
Fusion gene scores | * DoF score | 11 X 11 X 6=726 | 4 X 5 X 2=40 |
# samples | 14 | 6 | |
** MAII score | log2(14/726*10)=-2.37454272105078 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/40*10)=0.584962500721156 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PDE8A [Title/Abstract] AND CIB1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | PDE8A(85525579)-CIB1(90776935), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | PDE8A-CIB1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. PDE8A-CIB1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. |
* 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 |
Tgene | CIB1 | GO:0006974 | cellular response to DNA damage stimulus | 12011095 |
Tgene | CIB1 | GO:0007026 | negative regulation of microtubule depolymerization | 21215777 |
Tgene | CIB1 | GO:0007113 | endomitotic cell cycle | 21264284 |
Tgene | CIB1 | GO:0010977 | negative regulation of neuron projection development | 21215777 |
Tgene | CIB1 | GO:0033630 | positive regulation of cell adhesion mediated by integrin | 11756406 |
Tgene | CIB1 | GO:0070886 | positive regulation of calcineurin-NFAT signaling cascade | 20639889 |
Tgene | CIB1 | GO:1900026 | positive regulation of substrate adhesion-dependent cell spreading | 11756406 |
Tgene | CIB1 | GO:1990090 | cellular response to nerve growth factor stimulus | 21215777 |
Fusion gene breakpoints across PDE8A (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 CIB1 (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 |
ChimerDB4 | BRCA | TCGA-B6-A0IO-01A | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - |
ChimerDB4 | BRCA | TCGA-B6-A0IO | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - |
ChimerDB4 | BRCA | TCGA-B6-A0IO | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - |
ChimerDB4 | BRCA | TCGA-B6-A0IO-01A | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - |
ChimerDB4 | BRCA | TCGA-B6-A0IO-01A | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - |
ChimerDB4 | BRCA | TCGA-B6-A0IO-01A | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774445 | - |
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Fusion Gene ORF analysis for PDE8A-CIB1 |
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 |
In-frame | ENST00000310298 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - |
intron-3CDS | ENST00000557957 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - |
In-frame | ENST00000394553 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - |
In-frame | ENST00000339708 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - |
intron-3CDS | ENST00000557819 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - |
In-frame | ENST00000310298 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - |
intron-3CDS | ENST00000557957 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - |
In-frame | ENST00000394553 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - |
In-frame | ENST00000339708 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - |
intron-3CDS | ENST00000557819 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - |
Frame-shift | ENST00000310298 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774445 | - |
intron-3CDS | ENST00000557957 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774445 | - |
Frame-shift | ENST00000394553 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774445 | - |
Frame-shift | ENST00000339708 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774445 | - |
intron-3CDS | ENST00000557819 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774445 | - |
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) |
ENST00000310298 | PDE8A | chr15 | 85525579 | + | ENST00000328649 | CIB1 | chr15 | 90776935 | - | 1472 | 438 | 252 | 962 | 236 |
ENST00000394553 | PDE8A | chr15 | 85525579 | + | ENST00000328649 | CIB1 | chr15 | 90776935 | - | 1409 | 375 | 189 | 899 | 236 |
ENST00000339708 | PDE8A | chr15 | 85525579 | + | ENST00000328649 | CIB1 | chr15 | 90776935 | - | 1402 | 368 | 182 | 892 | 236 |
ENST00000310298 | PDE8A | chr15 | 85525579 | + | ENST00000328649 | CIB1 | chr15 | 90774739 | - | 1328 | 438 | 252 | 818 | 188 |
ENST00000394553 | PDE8A | chr15 | 85525579 | + | ENST00000328649 | CIB1 | chr15 | 90774739 | - | 1265 | 375 | 189 | 755 | 188 |
ENST00000339708 | PDE8A | chr15 | 85525579 | + | ENST00000328649 | CIB1 | chr15 | 90774739 | - | 1258 | 368 | 182 | 748 | 188 |
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 |
ENST00000310298 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - | 0.005171381 | 0.99482864 |
ENST00000394553 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - | 0.005459834 | 0.99454015 |
ENST00000339708 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90776935 | - | 0.00584178 | 0.99415827 |
ENST00000310298 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - | 0.003510432 | 0.9964896 |
ENST00000394553 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - | 0.003388714 | 0.9966113 |
ENST00000339708 | ENST00000328649 | PDE8A | chr15 | 85525579 | + | CIB1 | chr15 | 90774739 | - | 0.003633008 | 0.996367 |
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Fusion Genomic Features for PDE8A-CIB1 |
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 PDE8A-CIB1 |
Go to FGviewer for the breakpoints of chr15:85525579-chr15:90776935 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
. | CIB1 |
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Calcium-binding protein that plays a role in the regulation of numerous cellular processes, such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. Involved in bone marrow megakaryocyte differentiation by negatively regulating thrombopoietin-mediated signaling pathway. Participates in the endomitotic cell cycle of megakaryocyte, a form of mitosis in which both karyokinesis and cytokinesis are interrupted. Plays a role in integrin signaling by negatively regulating alpha-IIb/beta3 activation in thrombin-stimulated megakaryocytes preventing platelet aggregation. Up-regulates PTK2/FAK1 activity, and is also needed for the recruitment of PTK2/FAK1 to focal adhesions; it thus appears to play an important role in focal adhesion formation. Positively regulates cell migration on fibronectin in a CDC42-dependent manner, the effect being negatively regulated by PAK1. Functions as a negative regulator of stress activated MAP kinase (MAPK) signaling pathways. Down-regulates inositol 1,4,5-trisphosphate receptor-dependent calcium signaling. Involved in sphingosine kinase SPHK1 translocation to the plasma membrane in a N-myristoylation-dependent manner preventing TNF-alpha-induced apoptosis. Regulates serine/threonine-protein kinase PLK3 activity for proper completion of cell division progression. Plays a role in microtubule (MT) dynamics during neuronal development; disrupts the MT depolymerization activity of STMN2 attenuating NGF-induced neurite outgrowth and the MT reorganization at the edge of lamellipodia. Promotes cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. Stimulates calcineurin PPP3R1 activity by mediating its anchoring to the sarcolemma. In ischemia-induced (pathological or adaptive) angiogenesis, stimulates endothelial cell proliferation, migration and microvessel formation by activating the PAK1 and ERK1/ERK2 signaling pathway. Promotes also cancer cell survival and proliferation. May regulate cell cycle and differentiation of spermatogenic germ cells, and/or differentiation of supporting Sertoli cells.; FUNCTION: [Isoform 2]: Plays a regulatory role in angiogenesis and tumor growth by mediating PKD/PRKD2-induced vascular endothelial growth factor A (VEGFA) secretion. {ECO:0000269|PubMed:23503467}.; FUNCTION: (Microbial infection) Involved in keratinocyte-intrinsic immunity to human beta-papillomaviruses (HPVs). {ECO:0000269|PubMed:30068544}. |
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 |
Tgene | CIB1 | chr15:85525579 | chr15:90774739 | ENST00000328649 | 2 | 7 | 116_127 | 65.0 | 192.0 | Calcium binding | Note=1 | |
Tgene | CIB1 | chr15:85525579 | chr15:90774739 | ENST00000328649 | 2 | 7 | 161_172 | 65.0 | 192.0 | Calcium binding | Note=2 | |
Tgene | CIB1 | chr15:85525579 | chr15:90776935 | ENST00000328649 | 0 | 7 | 116_127 | 17.0 | 192.0 | Calcium binding | Note=1 | |
Tgene | CIB1 | chr15:85525579 | chr15:90776935 | ENST00000328649 | 0 | 7 | 161_172 | 17.0 | 192.0 | Calcium binding | Note=2 | |
Tgene | CIB1 | chr15:85525579 | chr15:90774739 | ENST00000328649 | 2 | 7 | 103_138 | 65.0 | 192.0 | Domain | EF-hand 1 | |
Tgene | CIB1 | chr15:85525579 | chr15:90774739 | ENST00000328649 | 2 | 7 | 148_183 | 65.0 | 192.0 | Domain | EF-hand 2 | |
Tgene | CIB1 | chr15:85525579 | chr15:90776935 | ENST00000328649 | 0 | 7 | 103_138 | 17.0 | 192.0 | Domain | EF-hand 1 | |
Tgene | CIB1 | chr15:85525579 | chr15:90776935 | ENST00000328649 | 0 | 7 | 148_183 | 17.0 | 192.0 | Domain | EF-hand 2 |
- 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 |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000310298 | + | 2 | 23 | 213_283 | 62.0 | 830.0 | Domain | PAS |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000310298 | + | 2 | 23 | 287_329 | 62.0 | 830.0 | Domain | Note=PAC |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000310298 | + | 2 | 23 | 480_820 | 62.0 | 830.0 | Domain | PDEase |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000339708 | + | 1 | 21 | 213_283 | 62.0 | 784.0 | Domain | PAS |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000339708 | + | 1 | 21 | 287_329 | 62.0 | 784.0 | Domain | Note=PAC |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000339708 | + | 1 | 21 | 480_820 | 62.0 | 784.0 | Domain | PDEase |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000394553 | + | 1 | 22 | 213_283 | 62.0 | 830.0 | Domain | PAS |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000394553 | + | 1 | 22 | 287_329 | 62.0 | 830.0 | Domain | Note=PAC |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000394553 | + | 1 | 22 | 480_820 | 62.0 | 830.0 | Domain | PDEase |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000557957 | + | 1 | 22 | 213_283 | 0 | 758.0 | Domain | PAS |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000557957 | + | 1 | 22 | 287_329 | 0 | 758.0 | Domain | Note=PAC |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000557957 | + | 1 | 22 | 480_820 | 0 | 758.0 | Domain | PDEase |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000310298 | + | 2 | 23 | 213_283 | 62.0 | 830.0 | Domain | PAS |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000310298 | + | 2 | 23 | 287_329 | 62.0 | 830.0 | Domain | Note=PAC |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000310298 | + | 2 | 23 | 480_820 | 62.0 | 830.0 | Domain | PDEase |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000339708 | + | 1 | 21 | 213_283 | 62.0 | 784.0 | Domain | PAS |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000339708 | + | 1 | 21 | 287_329 | 62.0 | 784.0 | Domain | Note=PAC |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000339708 | + | 1 | 21 | 480_820 | 62.0 | 784.0 | Domain | PDEase |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000394553 | + | 1 | 22 | 213_283 | 62.0 | 830.0 | Domain | PAS |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000394553 | + | 1 | 22 | 287_329 | 62.0 | 830.0 | Domain | Note=PAC |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000394553 | + | 1 | 22 | 480_820 | 62.0 | 830.0 | Domain | PDEase |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000557957 | + | 1 | 22 | 213_283 | 0 | 758.0 | Domain | PAS |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000557957 | + | 1 | 22 | 287_329 | 0 | 758.0 | Domain | Note=PAC |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000557957 | + | 1 | 22 | 480_820 | 0 | 758.0 | Domain | PDEase |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000310298 | + | 2 | 23 | 454_461 | 62.0 | 830.0 | Region | Involved in RAF1-binding |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000339708 | + | 1 | 21 | 454_461 | 62.0 | 784.0 | Region | Involved in RAF1-binding |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000394553 | + | 1 | 22 | 454_461 | 62.0 | 830.0 | Region | Involved in RAF1-binding |
Hgene | PDE8A | chr15:85525579 | chr15:90774739 | ENST00000557957 | + | 1 | 22 | 454_461 | 0 | 758.0 | Region | Involved in RAF1-binding |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000310298 | + | 2 | 23 | 454_461 | 62.0 | 830.0 | Region | Involved in RAF1-binding |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000339708 | + | 1 | 21 | 454_461 | 62.0 | 784.0 | Region | Involved in RAF1-binding |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000394553 | + | 1 | 22 | 454_461 | 62.0 | 830.0 | Region | Involved in RAF1-binding |
Hgene | PDE8A | chr15:85525579 | chr15:90776935 | ENST00000557957 | + | 1 | 22 | 454_461 | 0 | 758.0 | Region | Involved in RAF1-binding |
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Fusion Gene Sequence for PDE8A-CIB1 |
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. |
>In-frame_ENST00000310298_ENST00000328649_TCGA-B6-A0IO-01A_PDE8A_chr15_85525579_+_CIB1_chr15_90776935_length(transcript)=1472nt_BP=438nt AGTAGCCGGGCCAAGGCGGGAGCGGCTGCCTCTCAGGGTCGCTCCAGGGCCGCGCTAGGAAAGCCGCCGCCGCCGCAGCGCCCGCACCGC GATAAAAGGGGCGGCCGCGTTTCCTGACGCGAGATCCGCGCTCGCCGCCGCCCGCCCAGGCGGCGATGACACGGCGCCCGCGGCGGCCCG GAGGCGCCGGGTGGGCCGTTTGCTGACCGGATCGCGGCTACCCGCCAGCGTGTCCGCGGCGCCGCCGCCAGCATGGGCTGTGCCCCGAGC ATCCACATTTCCGAGCGCCTGGTGGCCGAGGACGCGCCTAGCCCCGCGGCACCGCCGCTGTCGTCCGGCGGGCCGCGCCTCCCGCAGGGC CAGAAGACGGCCGCCTTGCCCCGGACCCGCGGCGCCGGCCTCTTGGAGTCGGAGCTTCGCGACGGCAGCGGCAAGAAGGACTTGACGTTC CTGACGAAGCAGGAGATCCTCCTAGCCCACAGGCGGTTTTGTGAGCTGCTTCCCCAGGAGCAGCGGAGCGTGGAGTCGTCACTTCGGGCA CAAGTGCCCTTCGAGCAGATTCTCAGCCTTCCAGAGCTCAAGGCCAACCCCTTCAAGGAGCGAATCTGCAGGGTCTTCTCCACATCCCCA GCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGGATCTCCTCAGTGTGTTCAGTGACACAGCCACGCCAGACATCAAGTCCCATTATGCC TTCCGCATCTTTGACTTTGATGATGACGGAACCTTGAACAGAGAAGACCTGAGCCGGCTGGTGAACTGCCTCACGGGAGAGGGCGAGGAC ACACGGCTTAGTGCGTCTGAGATGAAGCAGCTCATCGACAACATCCTGGAGGAGTCTGACATTGACAGGGATGGAACCATCAACCTCTCT GAGTTCCAGCACGTCATCTCCCGTTCTCCAGACTTTGCCAGCTCCTTTAAGATTGTCCTGTGACAGCAGCCCCAGCGTGTGTCCTGGCAC CCTGTCCAAGAACCTTTCTACTGCTGAGCTGTGGCCAAGGTCAAGCCTGTGTTGCCAGTGCGGGCCAAGCTGGCCCAGCCTGGAGCTGGC GCTGTGCAGCCTCACCCCGGGCAGGGGCGGCCCTCGTTGTCAGGGCCTCTCCTCACTGCTGTTGTCATTGCTCCGTTTGTGTTTGTACTA ATCAGTAATAAAGGTTTAGAAGTTTGACCCTATGTGTGACATGAGATACACTGGTATGAGGAAGGACTGGACTTCTCTTCTAAGAGCCTT CAATCATCCTAGGAATAAGCAGCATATCGAGCAGAGGCCAGCGGGAAGTCAAGCCGCACCCACGCTGGCTGTCCCCGTGGGAGGGTGTGA GGATGAAGGGGCAGCAGGAGGTGTGGGACTCGCCTGTATCCTGATTGGGGTGGTGGTTAGATGAGTCTCTGCATGCATCAAAATGTAAAG >In-frame_ENST00000310298_ENST00000328649_TCGA-B6-A0IO-01A_PDE8A_chr15_85525579_+_CIB1_chr15_90776935_length(amino acids)=236AA_start in transcript=252_stop in transcript=962 MGCAPSIHISERLVAEDAPSPAAPPLSSGGPRLPQGQKTAALPRTRGAGLLESELRDGSGKKDLTFLTKQEILLAHRRFCELLPQEQRSV ESSLRAQVPFEQILSLPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCL -------------------------------------------------------------- >In-frame_ENST00000394553_ENST00000328649_TCGA-B6-A0IO-01A_PDE8A_chr15_85525579_+_CIB1_chr15_90776935_length(transcript)=1409nt_BP=375nt CCGCCGCCGCCGCAGCGCCCGCACCGCGATAAAAGGGGCGGCCGCGTTTCCTGACGCGAGATCCGCGCTCGCCGCCGCCCGCCCAGGCGG CGATGACACGGCGCCCGCGGCGGCCCGGAGGCGCCGGGTGGGCCGTTTGCTGACCGGATCGCGGCTACCCGCCAGCGTGTCCGCGGCGCC GCCGCCAGCATGGGCTGTGCCCCGAGCATCCACATTTCCGAGCGCCTGGTGGCCGAGGACGCGCCTAGCCCCGCGGCACCGCCGCTGTCG TCCGGCGGGCCGCGCCTCCCGCAGGGCCAGAAGACGGCCGCCTTGCCCCGGACCCGCGGCGCCGGCCTCTTGGAGTCGGAGCTTCGCGAC GGCAGCGGCAAGAAGGACTTGACGTTCCTGACGAAGCAGGAGATCCTCCTAGCCCACAGGCGGTTTTGTGAGCTGCTTCCCCAGGAGCAG CGGAGCGTGGAGTCGTCACTTCGGGCACAAGTGCCCTTCGAGCAGATTCTCAGCCTTCCAGAGCTCAAGGCCAACCCCTTCAAGGAGCGA ATCTGCAGGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGGATCTCCTCAGTGTGTTCAGTGACACAGCC ACGCCAGACATCAAGTCCCATTATGCCTTCCGCATCTTTGACTTTGATGATGACGGAACCTTGAACAGAGAAGACCTGAGCCGGCTGGTG AACTGCCTCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAGCAGCTCATCGACAACATCCTGGAGGAGTCTGACATT GACAGGGATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCTCCAGACTTTGCCAGCTCCTTTAAGATTGTCCTGTGA CAGCAGCCCCAGCGTGTGTCCTGGCACCCTGTCCAAGAACCTTTCTACTGCTGAGCTGTGGCCAAGGTCAAGCCTGTGTTGCCAGTGCGG GCCAAGCTGGCCCAGCCTGGAGCTGGCGCTGTGCAGCCTCACCCCGGGCAGGGGCGGCCCTCGTTGTCAGGGCCTCTCCTCACTGCTGTT GTCATTGCTCCGTTTGTGTTTGTACTAATCAGTAATAAAGGTTTAGAAGTTTGACCCTATGTGTGACATGAGATACACTGGTATGAGGAA GGACTGGACTTCTCTTCTAAGAGCCTTCAATCATCCTAGGAATAAGCAGCATATCGAGCAGAGGCCAGCGGGAAGTCAAGCCGCACCCAC GCTGGCTGTCCCCGTGGGAGGGTGTGAGGATGAAGGGGCAGCAGGAGGTGTGGGACTCGCCTGTATCCTGATTGGGGTGGTGGTTAGATG >In-frame_ENST00000394553_ENST00000328649_TCGA-B6-A0IO-01A_PDE8A_chr15_85525579_+_CIB1_chr15_90776935_length(amino acids)=236AA_start in transcript=189_stop in transcript=899 MGCAPSIHISERLVAEDAPSPAAPPLSSGGPRLPQGQKTAALPRTRGAGLLESELRDGSGKKDLTFLTKQEILLAHRRFCELLPQEQRSV ESSLRAQVPFEQILSLPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCL -------------------------------------------------------------- >In-frame_ENST00000339708_ENST00000328649_TCGA-B6-A0IO-01A_PDE8A_chr15_85525579_+_CIB1_chr15_90776935_length(transcript)=1402nt_BP=368nt CGCCGCAGCGCCCGCACCGCGATAAAAGGGGCGGCCGCGTTTCCTGACGCGAGATCCGCGCTCGCCGCCGCCCGCCCAGGCGGCGATGAC ACGGCGCCCGCGGCGGCCCGGAGGCGCCGGGTGGGCCGTTTGCTGACCGGATCGCGGCTACCCGCCAGCGTGTCCGCGGCGCCGCCGCCA GCATGGGCTGTGCCCCGAGCATCCACATTTCCGAGCGCCTGGTGGCCGAGGACGCGCCTAGCCCCGCGGCACCGCCGCTGTCGTCCGGCG GGCCGCGCCTCCCGCAGGGCCAGAAGACGGCCGCCTTGCCCCGGACCCGCGGCGCCGGCCTCTTGGAGTCGGAGCTTCGCGACGGCAGCG GCAAGAAGGACTTGACGTTCCTGACGAAGCAGGAGATCCTCCTAGCCCACAGGCGGTTTTGTGAGCTGCTTCCCCAGGAGCAGCGGAGCG TGGAGTCGTCACTTCGGGCACAAGTGCCCTTCGAGCAGATTCTCAGCCTTCCAGAGCTCAAGGCCAACCCCTTCAAGGAGCGAATCTGCA GGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGGATCTCCTCAGTGTGTTCAGTGACACAGCCACGCCAG ACATCAAGTCCCATTATGCCTTCCGCATCTTTGACTTTGATGATGACGGAACCTTGAACAGAGAAGACCTGAGCCGGCTGGTGAACTGCC TCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAGCAGCTCATCGACAACATCCTGGAGGAGTCTGACATTGACAGGG ATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCTCCAGACTTTGCCAGCTCCTTTAAGATTGTCCTGTGACAGCAGC CCCAGCGTGTGTCCTGGCACCCTGTCCAAGAACCTTTCTACTGCTGAGCTGTGGCCAAGGTCAAGCCTGTGTTGCCAGTGCGGGCCAAGC TGGCCCAGCCTGGAGCTGGCGCTGTGCAGCCTCACCCCGGGCAGGGGCGGCCCTCGTTGTCAGGGCCTCTCCTCACTGCTGTTGTCATTG CTCCGTTTGTGTTTGTACTAATCAGTAATAAAGGTTTAGAAGTTTGACCCTATGTGTGACATGAGATACACTGGTATGAGGAAGGACTGG ACTTCTCTTCTAAGAGCCTTCAATCATCCTAGGAATAAGCAGCATATCGAGCAGAGGCCAGCGGGAAGTCAAGCCGCACCCACGCTGGCT GTCCCCGTGGGAGGGTGTGAGGATGAAGGGGCAGCAGGAGGTGTGGGACTCGCCTGTATCCTGATTGGGGTGGTGGTTAGATGAGTCTCT >In-frame_ENST00000339708_ENST00000328649_TCGA-B6-A0IO-01A_PDE8A_chr15_85525579_+_CIB1_chr15_90776935_length(amino acids)=236AA_start in transcript=182_stop in transcript=892 MGCAPSIHISERLVAEDAPSPAAPPLSSGGPRLPQGQKTAALPRTRGAGLLESELRDGSGKKDLTFLTKQEILLAHRRFCELLPQEQRSV ESSLRAQVPFEQILSLPELKANPFKERICRVFSTSPAKDSLSFEDFLDLLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCL -------------------------------------------------------------- >In-frame_ENST00000310298_ENST00000328649_TCGA-B6-A0IO_PDE8A_chr15_85525579_+_CIB1_chr15_90774739_length(transcript)=1328nt_BP=438nt AGTAGCCGGGCCAAGGCGGGAGCGGCTGCCTCTCAGGGTCGCTCCAGGGCCGCGCTAGGAAAGCCGCCGCCGCCGCAGCGCCCGCACCGC GATAAAAGGGGCGGCCGCGTTTCCTGACGCGAGATCCGCGCTCGCCGCCGCCCGCCCAGGCGGCGATGACACGGCGCCCGCGGCGGCCCG GAGGCGCCGGGTGGGCCGTTTGCTGACCGGATCGCGGCTACCCGCCAGCGTGTCCGCGGCGCCGCCGCCAGCATGGGCTGTGCCCCGAGC ATCCACATTTCCGAGCGCCTGGTGGCCGAGGACGCGCCTAGCCCCGCGGCACCGCCGCTGTCGTCCGGCGGGCCGCGCCTCCCGCAGGGC CAGAAGACGGCCGCCTTGCCCCGGACCCGCGGCGCCGGCCTCTTGGAGTCGGAGCTTCGCGACGGCAGCGGCAAGAAGGCCAACCCCTTC AAGGAGCGAATCTGCAGGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGGATCTCCTCAGTGTGTTCAGT GACACAGCCACGCCAGACATCAAGTCCCATTATGCCTTCCGCATCTTTGACTTTGATGATGACGGAACCTTGAACAGAGAAGACCTGAGC CGGCTGGTGAACTGCCTCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAGCAGCTCATCGACAACATCCTGGAGGAG TCTGACATTGACAGGGATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCTCCAGACTTTGCCAGCTCCTTTAAGATT GTCCTGTGACAGCAGCCCCAGCGTGTGTCCTGGCACCCTGTCCAAGAACCTTTCTACTGCTGAGCTGTGGCCAAGGTCAAGCCTGTGTTG CCAGTGCGGGCCAAGCTGGCCCAGCCTGGAGCTGGCGCTGTGCAGCCTCACCCCGGGCAGGGGCGGCCCTCGTTGTCAGGGCCTCTCCTC ACTGCTGTTGTCATTGCTCCGTTTGTGTTTGTACTAATCAGTAATAAAGGTTTAGAAGTTTGACCCTATGTGTGACATGAGATACACTGG TATGAGGAAGGACTGGACTTCTCTTCTAAGAGCCTTCAATCATCCTAGGAATAAGCAGCATATCGAGCAGAGGCCAGCGGGAAGTCAAGC CGCACCCACGCTGGCTGTCCCCGTGGGAGGGTGTGAGGATGAAGGGGCAGCAGGAGGTGTGGGACTCGCCTGTATCCTGATTGGGGTGGT >In-frame_ENST00000310298_ENST00000328649_TCGA-B6-A0IO_PDE8A_chr15_85525579_+_CIB1_chr15_90774739_length(amino acids)=188AA_start in transcript=252_stop in transcript=818 MGCAPSIHISERLVAEDAPSPAAPPLSSGGPRLPQGQKTAALPRTRGAGLLESELRDGSGKKANPFKERICRVFSTSPAKDSLSFEDFLD LLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRSPDF -------------------------------------------------------------- >In-frame_ENST00000394553_ENST00000328649_TCGA-B6-A0IO_PDE8A_chr15_85525579_+_CIB1_chr15_90774739_length(transcript)=1265nt_BP=375nt CCGCCGCCGCCGCAGCGCCCGCACCGCGATAAAAGGGGCGGCCGCGTTTCCTGACGCGAGATCCGCGCTCGCCGCCGCCCGCCCAGGCGG CGATGACACGGCGCCCGCGGCGGCCCGGAGGCGCCGGGTGGGCCGTTTGCTGACCGGATCGCGGCTACCCGCCAGCGTGTCCGCGGCGCC GCCGCCAGCATGGGCTGTGCCCCGAGCATCCACATTTCCGAGCGCCTGGTGGCCGAGGACGCGCCTAGCCCCGCGGCACCGCCGCTGTCG TCCGGCGGGCCGCGCCTCCCGCAGGGCCAGAAGACGGCCGCCTTGCCCCGGACCCGCGGCGCCGGCCTCTTGGAGTCGGAGCTTCGCGAC GGCAGCGGCAAGAAGGCCAACCCCTTCAAGGAGCGAATCTGCAGGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGAC TTCCTGGATCTCCTCAGTGTGTTCAGTGACACAGCCACGCCAGACATCAAGTCCCATTATGCCTTCCGCATCTTTGACTTTGATGATGAC GGAACCTTGAACAGAGAAGACCTGAGCCGGCTGGTGAACTGCCTCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAG CAGCTCATCGACAACATCCTGGAGGAGTCTGACATTGACAGGGATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCT CCAGACTTTGCCAGCTCCTTTAAGATTGTCCTGTGACAGCAGCCCCAGCGTGTGTCCTGGCACCCTGTCCAAGAACCTTTCTACTGCTGA GCTGTGGCCAAGGTCAAGCCTGTGTTGCCAGTGCGGGCCAAGCTGGCCCAGCCTGGAGCTGGCGCTGTGCAGCCTCACCCCGGGCAGGGG CGGCCCTCGTTGTCAGGGCCTCTCCTCACTGCTGTTGTCATTGCTCCGTTTGTGTTTGTACTAATCAGTAATAAAGGTTTAGAAGTTTGA CCCTATGTGTGACATGAGATACACTGGTATGAGGAAGGACTGGACTTCTCTTCTAAGAGCCTTCAATCATCCTAGGAATAAGCAGCATAT CGAGCAGAGGCCAGCGGGAAGTCAAGCCGCACCCACGCTGGCTGTCCCCGTGGGAGGGTGTGAGGATGAAGGGGCAGCAGGAGGTGTGGG ACTCGCCTGTATCCTGATTGGGGTGGTGGTTAGATGAGTCTCTGCATGCATCAAAATGTAAAGAACCGTACATCAGTAAAGTCTATTTTA >In-frame_ENST00000394553_ENST00000328649_TCGA-B6-A0IO_PDE8A_chr15_85525579_+_CIB1_chr15_90774739_length(amino acids)=188AA_start in transcript=189_stop in transcript=755 MGCAPSIHISERLVAEDAPSPAAPPLSSGGPRLPQGQKTAALPRTRGAGLLESELRDGSGKKANPFKERICRVFSTSPAKDSLSFEDFLD LLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRSPDF -------------------------------------------------------------- >In-frame_ENST00000339708_ENST00000328649_TCGA-B6-A0IO_PDE8A_chr15_85525579_+_CIB1_chr15_90774739_length(transcript)=1258nt_BP=368nt CGCCGCAGCGCCCGCACCGCGATAAAAGGGGCGGCCGCGTTTCCTGACGCGAGATCCGCGCTCGCCGCCGCCCGCCCAGGCGGCGATGAC ACGGCGCCCGCGGCGGCCCGGAGGCGCCGGGTGGGCCGTTTGCTGACCGGATCGCGGCTACCCGCCAGCGTGTCCGCGGCGCCGCCGCCA GCATGGGCTGTGCCCCGAGCATCCACATTTCCGAGCGCCTGGTGGCCGAGGACGCGCCTAGCCCCGCGGCACCGCCGCTGTCGTCCGGCG GGCCGCGCCTCCCGCAGGGCCAGAAGACGGCCGCCTTGCCCCGGACCCGCGGCGCCGGCCTCTTGGAGTCGGAGCTTCGCGACGGCAGCG GCAAGAAGGCCAACCCCTTCAAGGAGCGAATCTGCAGGGTCTTCTCCACATCCCCAGCCAAAGACAGCCTTAGCTTTGAGGACTTCCTGG ATCTCCTCAGTGTGTTCAGTGACACAGCCACGCCAGACATCAAGTCCCATTATGCCTTCCGCATCTTTGACTTTGATGATGACGGAACCT TGAACAGAGAAGACCTGAGCCGGCTGGTGAACTGCCTCACGGGAGAGGGCGAGGACACACGGCTTAGTGCGTCTGAGATGAAGCAGCTCA TCGACAACATCCTGGAGGAGTCTGACATTGACAGGGATGGAACCATCAACCTCTCTGAGTTCCAGCACGTCATCTCCCGTTCTCCAGACT TTGCCAGCTCCTTTAAGATTGTCCTGTGACAGCAGCCCCAGCGTGTGTCCTGGCACCCTGTCCAAGAACCTTTCTACTGCTGAGCTGTGG CCAAGGTCAAGCCTGTGTTGCCAGTGCGGGCCAAGCTGGCCCAGCCTGGAGCTGGCGCTGTGCAGCCTCACCCCGGGCAGGGGCGGCCCT CGTTGTCAGGGCCTCTCCTCACTGCTGTTGTCATTGCTCCGTTTGTGTTTGTACTAATCAGTAATAAAGGTTTAGAAGTTTGACCCTATG TGTGACATGAGATACACTGGTATGAGGAAGGACTGGACTTCTCTTCTAAGAGCCTTCAATCATCCTAGGAATAAGCAGCATATCGAGCAG AGGCCAGCGGGAAGTCAAGCCGCACCCACGCTGGCTGTCCCCGTGGGAGGGTGTGAGGATGAAGGGGCAGCAGGAGGTGTGGGACTCGCC >In-frame_ENST00000339708_ENST00000328649_TCGA-B6-A0IO_PDE8A_chr15_85525579_+_CIB1_chr15_90774739_length(amino acids)=188AA_start in transcript=182_stop in transcript=748 MGCAPSIHISERLVAEDAPSPAAPPLSSGGPRLPQGQKTAALPRTRGAGLLESELRDGSGKKANPFKERICRVFSTSPAKDSLSFEDFLD LLSVFSDTATPDIKSHYAFRIFDFDDDGTLNREDLSRLVNCLTGEGEDTRLSASEMKQLIDNILEESDIDRDGTINLSEFQHVISRSPDF -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for PDE8A-CIB1 |
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 PDE8A-CIB1 |
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 | CIB1 | Q99828 | DB11348 | Calcium Phosphate | Ligand | Small molecule | Approved |
Tgene | CIB1 | Q99828 | DB11348 | Calcium Phosphate | Ligand | Small molecule | Approved |
Tgene | CIB1 | Q99828 | DB11348 | Calcium Phosphate | Ligand | Small molecule | Approved |
Tgene | CIB1 | Q99828 | DB11348 | Calcium Phosphate | Ligand | Small molecule | Approved |
Tgene | CIB1 | Q99828 | DB14481 | Calcium phosphate dihydrate | Small molecule | Approved | |
Tgene | CIB1 | Q99828 | DB14481 | Calcium phosphate dihydrate | Small molecule | Approved | |
Tgene | CIB1 | Q99828 | DB14481 | Calcium phosphate dihydrate | Small molecule | Approved | |
Tgene | CIB1 | Q99828 | DB14481 | Calcium phosphate dihydrate | Small molecule | Approved | |
Tgene | CIB1 | Q99828 | DB11093 | Calcium citrate | Ligand | Small molecule | Approved|Investigational |
Tgene | CIB1 | Q99828 | DB11093 | Calcium citrate | Ligand | Small molecule | Approved|Investigational |
Tgene | CIB1 | Q99828 | DB11093 | Calcium citrate | Ligand | Small molecule | Approved|Investigational |
Tgene | CIB1 | Q99828 | DB11093 | Calcium citrate | Ligand | Small molecule | Approved|Investigational |
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Related Diseases for PDE8A-CIB1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CIB1 | C4748876 | EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 | 2 | GENOMICS_ENGLAND |
Tgene | CIB1 | C0014522 | Epidermodysplasia Verruciformis | 1 | ORPHANET |