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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for CDC73 |
 Gene summary |
| Gene information | Gene symbol | CDC73 | Gene ID | 79577 |
| Gene name | cell division cycle 73 | |
| Synonyms | C1orf28|FIHP|HPTJT|HRPT1|HRPT2|HYX | |
| Cytomap | 1q31.2 | |
| Type of gene | protein-coding | |
| Description | parafibrominFamilial isolated hyperparathyroidismPaf1/RNA polymerase II complex componentcell division cycle 73 Paf1/RNA polymerase II complex component-like proteincell division cycle 73, Paf1/RNA polymerase II complex component, homologcell divisio | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CDC73 | GO:0008285 | negative regulation of cell proliferation | 16989776 |
| CDC73 | GO:0010390 | histone monoubiquitination | 16307923 |
| CDC73 | GO:0030177 | positive regulation of Wnt signaling pathway | 16630820 |
| CDC73 | GO:0032968 | positive regulation of transcription elongation from RNA polymerase II promoter | 20178742 |
| CDC73 | GO:0033523 | histone H2B ubiquitination | 16307923 |
| CDC73 | GO:0045638 | negative regulation of myeloid cell differentiation | 20541477 |
| CDC73 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20178742 |
| CDC73 | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 16989776 |
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Gene structures and expression levels for CDC73 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000134371
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000643006.1 | CDC73-205:nonsense_mediated_decay:CDC73 | 1.077684e+02 | 1.072125e+00 | 6.116368e-05 | 4.881715e-04 |
| CB | UP | ENST00000650197.1 | CDC73-213:nonsense_mediated_decay:CDC73 | 1.105030e+01 | 1.311602e+00 | 2.231024e-03 | 1.008588e-02 |
| TC | UP | ENST00000643006.1 | CDC73-205:nonsense_mediated_decay:CDC73 | 7.168618e+01 | 1.143050e+00 | 8.938151e-05 | 1.475986e-03 |
| TC | UP | ENST00000650197.1 | CDC73-213:nonsense_mediated_decay:CDC73 | 2.279003e+01 | 1.410982e+00 | 2.311265e-03 | 1.872868e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CDC73 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_10612 | chr1 | 193141850:193142066:193147867:193147965:193150304:193150381 | 193147867:193147965 |
| exon_skip_107634 | chr1 | 193212390:193212477:193232993:193233154:193236256:193236356 | 193232993:193233154 |
| exon_skip_142376 | chr1 | 193125112:193125217:193127848:193128138:193130174:193130241 | 193127848:193128138 |
| exon_skip_147920 | chr1 | 193152380:193152444:193161123:193161190:193203795:193203851 | 193161123:193161190 |
| exon_skip_1653 | chr1 | 193236256:193236356:193237708:193237854:193249730:193249871 | 193237708:193237854 |
| exon_skip_214975 | chr1 | 193152380:193152444:193161123:193161190:193203795:193203852 | 193161123:193161190 |
| exon_skip_219560 | chr1 | 193233026:193233154:193236256:193236356:193249730:193249871 | 193236256:193236356 |
| exon_skip_25804 | chr1 | 193125112:193125217:193127848:193128138:193130174:193130243 | 193127848:193128138 |
| exon_skip_50665 | chr1 | 193122300:193122331:193125112:193125217:193130174:193130243 | 193125112:193125217 |
| exon_skip_94488 | chr1 | 193152380:193152444:193203795:193203852:193212065:193212100 | 193203795:193203852 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for CDC73 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000367435 | 193203795 | 193203852 | Frame-shift |
| ENST00000367435 | 193236256 | 193236356 | Frame-shift |
| ENST00000367435 | 193147867 | 193147965 | In-frame |
| ENST00000367435 | 193232993 | 193233154 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000367435 | 193147867 | 193147965 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000367435 | 193236256 | 193236356 | Frame-shift |
| ENST00000367435 | 193147867 | 193147965 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CDC73 |
p-ENSG00000134371_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000367435 | 4986 | 531 | 193147867 | 193147965 | 915 | 1012 | 243 | 276 |
| ENST00000367435 | 4986 | 531 | 193232993 | 193233154 | 1340 | 1500 | 385 | 438 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000367435 | 4986 | 531 | 193147867 | 193147965 | 915 | 1012 | 243 | 276 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000367435 | 4986 | 531 | 193147867 | 193147965 | 915 | 1012 | 243 | 276 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q6P1J9 | 243 | 276 | 2 | 531 | Chain | ID=PRO_0000191803;Note=Parafibromin |
| Q6P1J9 | 243 | 276 | 272 | 272 | Natural variant | ID=VAR_064934;Note=Found in a parathyroid adenoma sample. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16728578;Dbxref=dbSNP:rs752383339,PMID:16728578 |
| Q6P1J9 | 243 | 276 | 200 | 531 | Region | Note=Interaction with POLR2A and PAF1 |
| Q6P1J9 | 243 | 276 | 200 | 250 | Region | Note=Interaction with CTNNB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16630820;Dbxref=PMID:16630820 |
| Q6P1J9 | 385 | 438 | 2 | 531 | Chain | ID=PRO_0000191803;Note=Parafibromin |
| Q6P1J9 | 385 | 438 | 200 | 531 | Region | Note=Interaction with POLR2A and PAF1 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q6P1J9 | 243 | 276 | 2 | 531 | Chain | ID=PRO_0000191803;Note=Parafibromin |
| Q6P1J9 | 243 | 276 | 272 | 272 | Natural variant | ID=VAR_064934;Note=Found in a parathyroid adenoma sample. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16728578;Dbxref=dbSNP:rs752383339,PMID:16728578 |
| Q6P1J9 | 243 | 276 | 200 | 531 | Region | Note=Interaction with POLR2A and PAF1 |
| Q6P1J9 | 243 | 276 | 200 | 250 | Region | Note=Interaction with CTNNB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16630820;Dbxref=PMID:16630820 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q6P1J9 | 243 | 276 | 2 | 531 | Chain | ID=PRO_0000191803;Note=Parafibromin |
| Q6P1J9 | 243 | 276 | 272 | 272 | Natural variant | ID=VAR_064934;Note=Found in a parathyroid adenoma sample. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16728578;Dbxref=dbSNP:rs752383339,PMID:16728578 |
| Q6P1J9 | 243 | 276 | 200 | 531 | Region | Note=Interaction with POLR2A and PAF1 |
| Q6P1J9 | 243 | 276 | 200 | 250 | Region | Note=Interaction with CTNNB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16630820;Dbxref=PMID:16630820 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CDC73 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for CDC73 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for CDC73 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDC73 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CDC73 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CDC73 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CDC73 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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