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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 CCDC112 |
 Gene summary |
| Gene information | Gene symbol | CCDC112 | Gene ID | 153733 |
| Gene name | coiled-coil domain containing 112 | |
| Synonyms | MBC1 | |
| Cytomap | 5q22.3 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 112mutated in bladder cancer 1mutated in bladder cancer protein 1 | |
| Modification date | 20200313 | |
| UniProtAcc | D6RF76, Q8NEF3, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for CCDC112 |
| 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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ENSG00000164221
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 CCDC112 |
| 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_101673 | chr5 | 115279647:115279768:115284787:115284908:115296427:115296461 | 115284787:115284908 |
| exon_skip_106872 | chr5 | 115269703:115269798:115271213:115271626:115275216:115275606 | 115271213:115271626 |
| exon_skip_121288 | chr5 | 115275339:115275606:115275994:115276069:115276965:115277054 | 115275994:115276069 |
| exon_skip_138541 | chr5 | 115268882:115269000:115269703:115269798:115271213:115271610 | 115269703:115269798 |
| exon_skip_207973 | chr5 | 115268882:115269000:115269703:115269798:115271213:115271533 | 115269703:115269798 |
| exon_skip_236866 | chr5 | 115276965:115277054:115279647:115279768:115284787:115284908 | 115279647:115279768 |
| exon_skip_249021 | chr5 | 115268882:115269000:115269703:115269798:115271213:115271481 | 115269703:115269798 |
| exon_skip_274370 | chr5 | 115268882:115269000:115269703:115269798:115271213:115271233 | 115269703:115269798 |
| 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 CCDC112 |
| 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 |
| ENST00000395557 | 115269703 | 115269798 | In-frame |
| ENST00000512261 | 115269703 | 115269798 | In-frame |
| ENST00000395557 | 115271213 | 115271626 | In-frame |
| ENST00000512261 | 115271213 | 115271626 | 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 |
| ENST00000395557 | 115269703 | 115269798 | In-frame |
| ENST00000512261 | 115269703 | 115269798 | In-frame |
| ENST00000395557 | 115271213 | 115271626 | In-frame |
| ENST00000512261 | 115271213 | 115271626 | 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 |
| ENST00000395557 | 115279647 | 115279768 | 3UTR-3CDS |
| ENST00000395557 | 115275994 | 115276069 | Frame-shift |
| ENST00000512261 | 115275994 | 115276069 | Frame-shift |
| ENST00000395557 | 115269703 | 115269798 | In-frame |
| ENST00000512261 | 115269703 | 115269798 | In-frame |
| ENST00000395557 | 115271213 | 115271626 | In-frame |
| ENST00000512261 | 115271213 | 115271626 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC112 |
p-ENSG00000164221_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 |
| ENST00000395557 | 2086 | 446 | 115271213 | 115271626 | 1161 | 1573 | 223 | 360 |
| ENST00000512261 | 2296 | 446 | 115271213 | 115271626 | 1087 | 1499 | 223 | 360 |
| ENST00000395557 | 2086 | 446 | 115269703 | 115269798 | 1575 | 1669 | 361 | 392 |
| ENST00000512261 | 2296 | 446 | 115269703 | 115269798 | 1501 | 1595 | 361 | 392 |
| 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 |
| ENST00000395557 | 2086 | 446 | 115271213 | 115271626 | 1161 | 1573 | 223 | 360 |
| ENST00000512261 | 2296 | 446 | 115271213 | 115271626 | 1087 | 1499 | 223 | 360 |
| ENST00000395557 | 2086 | 446 | 115269703 | 115269798 | 1575 | 1669 | 361 | 392 |
| ENST00000512261 | 2296 | 446 | 115269703 | 115269798 | 1501 | 1595 | 361 | 392 |
| 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 |
| ENST00000395557 | 2086 | 446 | 115271213 | 115271626 | 1161 | 1573 | 223 | 360 |
| ENST00000512261 | 2296 | 446 | 115271213 | 115271626 | 1087 | 1499 | 223 | 360 |
| ENST00000395557 | 2086 | 446 | 115269703 | 115269798 | 1575 | 1669 | 361 | 392 |
| ENST00000512261 | 2296 | 446 | 115269703 | 115269798 | 1501 | 1595 | 361 | 392 |
| 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 |
| Q8NEF3 | 223 | 360 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 223 | 360 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 223 | 360 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8NEF3 | 223 | 360 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8NEF3 | 223 | 360 | 341 | 341 | Natural variant | ID=VAR_039149;Note=K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17856922,PMID:15489334 |
| Q8NEF3 | 223 | 360 | 341 | 341 | Natural variant | ID=VAR_039149;Note=K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17856922,PMID:15489334 |
| Q8NEF3 | 223 | 360 | 354 | 354 | Natural variant | ID=VAR_039150;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852930,PMID:15489334 |
| Q8NEF3 | 223 | 360 | 354 | 354 | Natural variant | ID=VAR_039150;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852930,PMID:15489334 |
| Q8NEF3 | 361 | 392 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 361 | 392 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 361 | 392 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8NEF3 | 361 | 392 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8NEF3 | 223 | 360 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 223 | 360 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 223 | 360 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8NEF3 | 223 | 360 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8NEF3 | 223 | 360 | 341 | 341 | Natural variant | ID=VAR_039149;Note=K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17856922,PMID:15489334 |
| Q8NEF3 | 223 | 360 | 341 | 341 | Natural variant | ID=VAR_039149;Note=K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17856922,PMID:15489334 |
| Q8NEF3 | 223 | 360 | 354 | 354 | Natural variant | ID=VAR_039150;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852930,PMID:15489334 |
| Q8NEF3 | 223 | 360 | 354 | 354 | Natural variant | ID=VAR_039150;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852930,PMID:15489334 |
| Q8NEF3 | 361 | 392 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 361 | 392 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 361 | 392 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8NEF3 | 361 | 392 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8NEF3 | 223 | 360 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 223 | 360 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 223 | 360 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8NEF3 | 223 | 360 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8NEF3 | 223 | 360 | 341 | 341 | Natural variant | ID=VAR_039149;Note=K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17856922,PMID:15489334 |
| Q8NEF3 | 223 | 360 | 341 | 341 | Natural variant | ID=VAR_039149;Note=K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17856922,PMID:15489334 |
| Q8NEF3 | 223 | 360 | 354 | 354 | Natural variant | ID=VAR_039150;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852930,PMID:15489334 |
| Q8NEF3 | 223 | 360 | 354 | 354 | Natural variant | ID=VAR_039150;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852930,PMID:15489334 |
| Q8NEF3 | 361 | 392 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 361 | 392 | 1 | 446 | Chain | ID=PRO_0000320160;Note=Coiled-coil domain-containing protein 112 |
| Q8NEF3 | 361 | 392 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8NEF3 | 361 | 392 | 219 | 400 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CCDC112 |
| 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 CCDC112 |
| - 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 CCDC112 |
| 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 CCDC112 |
| 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 CCDC112 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | KHDRBS2 | exon_skip_138541 | -6.089301e-01 | 1.236013e-03 |
| IFG | KHDRBS3 | exon_skip_138541 | -4.041572e-01 | 4.509755e-02 |
| TC | KHDRBS2 | exon_skip_249021 | -5.785121e-01 | 1.392534e-15 |
| TC | KHDRBS3 | exon_skip_249021 | -5.176988e-01 | 2.790046e-12 |
| TC | NUP42 | exon_skip_249021 | -4.114544e-01 | 7.129425e-08 |
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RelatedDrugs for CCDC112 |
| 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 CCDC112 |
| 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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