|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for RNF114 |
Gene summary |
Gene information | Gene symbol | RNF114 | Gene ID | 55905 |
Gene name | ring finger protein 114 | |
Synonyms | PSORS12|ZNF313 | |
Cytomap | 20q13.13 | |
Type of gene | protein-coding | |
Description | E3 ubiquitin-protein ligase RNF114RING-type E3 ubiquitin transferase RNF114zinc finger protein 228zinc finger protein 313 | |
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 |
Top |
Gene structures and expression levels for RNF114 |
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. |
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. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RNF114 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_143932 | chr20 | 49946136:49946250:49949248:49949355:49952076:49952128 | 49949248:49949355 |
exon_skip_154399 | chr20 | 49936407:49936552:49941561:49941711:49945382:49945411 | 49941561:49941711 |
exon_skip_170423 | chr20 | 49936407:49936552:49941561:49941711:49945382:49945488 | 49941561:49941711 |
exon_skip_189736 | chr20 | 49936407:49936552:49941107:49941220:49941561:49941711 | 49941107:49941220 |
exon_skip_235703 | chr20 | 49936377:49936552:49941583:49941711:49945382:49945488 | 49941583:49941711 |
exon_skip_239127 | chr20 | 49936407:49936552:49941583:49941711:49945382:49945488 | 49941583:49941711 |
exon_skip_268846 | chr20 | 49936407:49936552:49941583:49941711:49945382:49945411 | 49941583:49941711 |
exon_skip_96229 | chr20 | 49941107:49941220:49941561:49941711:49945382:49945488 | 49941561:49941711 |
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 |
exon_skip_170423 | MSBB_PG | 8.425000e-01 | 7.122449e-01 | 1.302551e-01 | 7.111981e-06 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for RNF114 |
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 |
ENST00000244061 | 49941561 | 49941711 | Frame-shift |
ENST00000244061 | 49949248 | 49949355 | 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 |
ENST00000244061 | 49941561 | 49941711 | Frame-shift |
ENST00000244061 | 49949248 | 49949355 | 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 |
ENST00000244061 | 49941561 | 49941711 | Frame-shift |
ENST00000244061 | 49949248 | 49949355 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for RNF114 |
p-ENSG00000124226_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 |
ENST00000244061 | 2520 | 228 | 49949248 | 49949355 | 580 | 686 | 171 | 207 |
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 |
ENST00000244061 | 2520 | 228 | 49949248 | 49949355 | 580 | 686 | 171 | 207 |
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 |
ENST00000244061 | 2520 | 228 | 49949248 | 49949355 | 580 | 686 | 171 | 207 |
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 |
Q9Y508 | 171 | 207 | 173 | 191 | Alternative sequence | ID=VSP_036843;Note=In isoform 2. CPICASMPWGDPNYRSANF->SEQSPCLLSVSCYRASITY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y508 | 171 | 207 | 192 | 228 | Alternative sequence | ID=VSP_036844;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y508 | 171 | 207 | 1 | 228 | Chain | ID=PRO_0000056307;Note=E3 ubiquitin-protein ligase RNF114 |
Q9Y508 | 171 | 207 | 205 | 205 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
Q9Y508 | 171 | 207 | 173 | 191 | Alternative sequence | ID=VSP_036843;Note=In isoform 2. CPICASMPWGDPNYRSANF->SEQSPCLLSVSCYRASITY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y508 | 171 | 207 | 192 | 228 | Alternative sequence | ID=VSP_036844;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y508 | 171 | 207 | 1 | 228 | Chain | ID=PRO_0000056307;Note=E3 ubiquitin-protein ligase RNF114 |
Q9Y508 | 171 | 207 | 205 | 205 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
Q9Y508 | 171 | 207 | 173 | 191 | Alternative sequence | ID=VSP_036843;Note=In isoform 2. CPICASMPWGDPNYRSANF->SEQSPCLLSVSCYRASITY;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y508 | 171 | 207 | 192 | 228 | Alternative sequence | ID=VSP_036844;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y508 | 171 | 207 | 1 | 228 | Chain | ID=PRO_0000056307;Note=E3 ubiquitin-protein ligase RNF114 |
Q9Y508 | 171 | 207 | 205 | 205 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in RNF114 |
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 |
Top |
SNVs in the skipped exons for RNF114 |
- 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 |
Top |
AD stage-associated exon skippint events for RNF114 |
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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RNF114 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for RNF114 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RALYL | exon_skip_170423 | -4.418870e-01 | 5.510122e-09 |
DLPFC | RBFOX2 | exon_skip_170423 | -5.928323e-01 | 2.877435e-33 |
DLPFC | RALYL | exon_skip_170423 | -4.574943e-01 | 8.759208e-19 |
FL | RBFOX2 | exon_skip_170423 | -5.709366e-01 | 5.850669e-17 |
FL | MBNL1 | exon_skip_170423 | -4.100005e-01 | 1.092514e-08 |
FL | ILF2 | exon_skip_170423 | -5.256683e-01 | 3.536414e-14 |
FL | RBM24 | exon_skip_170423 | -5.553295e-01 | 5.941790e-16 |
FL | FUBP1 | exon_skip_170423 | -4.241061e-01 | 2.978573e-09 |
FL | RALYL | exon_skip_170423 | -6.354142e-01 | 9.607614e-22 |
FL | HNRNPH2 | exon_skip_170423 | -4.889307e-01 | 3.311565e-12 |
FL | ESRP1 | exon_skip_170423 | -4.787005e-01 | 1.067568e-11 |
HCC | RBFOX2 | exon_skip_170423 | -4.624096e-01 | 8.136124e-16 |
HCC | ZNF326 | exon_skip_170423 | 5.887450e-01 | 9.126432e-27 |
HCC | SFPQ | exon_skip_170423 | 5.615262e-01 | 5.304341e-24 |
HCC | TRNAU1AP | exon_skip_170423 | 4.556555e-01 | 2.383424e-15 |
HCC | FUBP1 | exon_skip_170423 | 4.061635e-01 | 3.157064e-12 |
HCC | RALYL | exon_skip_170423 | -4.082803e-01 | 2.376526e-12 |
HCC | RBM4 | exon_skip_170423 | 4.321276e-01 | 8.412629e-14 |
HCC | ZC3H10 | exon_skip_170423 | 5.559712e-01 | 1.811400e-23 |
IFG | RBFOX2 | exon_skip_170423 | -4.897961e-01 | 8.154315e-03 |
IFG | ZNF326 | exon_skip_170423 | 4.454036e-01 | 1.753688e-02 |
IFG | RBM24 | exon_skip_170423 | -5.045886e-01 | 6.176289e-03 |
IFG | RALYL | exon_skip_170423 | -4.656898e-01 | 1.250921e-02 |
PCC | RBFOX2 | exon_skip_170423 | -6.158796e-01 | 9.781410e-24 |
PCC | RALYL | exon_skip_170423 | -6.124942e-01 | 1.995887e-23 |
PG | RBFOX2 | exon_skip_170423 | -7.192639e-01 | 1.421017e-27 |
PG | MBNL1 | exon_skip_170423 | -4.464753e-01 | 1.846701e-09 |
PG | ILF2 | exon_skip_170423 | -5.578359e-01 | 7.056709e-15 |
PG | RBM24 | exon_skip_170423 | -6.464166e-01 | 6.778704e-21 |
PG | RALYL | exon_skip_170423 | -6.974300e-01 | 2.313602e-25 |
PG | CELF1 | exon_skip_170423 | -5.595477e-01 | 5.609130e-15 |
PG | HNRNPH2 | exon_skip_170423 | -6.402952e-01 | 2.045765e-20 |
PG | RBM4 | exon_skip_170423 | -4.167106e-01 | 2.585675e-08 |
STG | RBFOX2 | exon_skip_170423 | -5.974502e-01 | 1.915771e-08 |
STG | ILF2 | exon_skip_170423 | -4.394350e-01 | 8.963893e-05 |
STG | RBM24 | exon_skip_170423 | -5.423983e-01 | 5.983626e-07 |
STG | RALYL | exon_skip_170423 | -6.021766e-01 | 1.382575e-08 |
STG | CELF1 | exon_skip_170423 | -4.378348e-01 | 9.573685e-05 |
STG | HNRNPH2 | exon_skip_170423 | -4.439391e-01 | 7.434887e-05 |
TC | RBFOX2 | exon_skip_154399 | -8.021741e-01 | 3.239509e-37 |
TC | ZNF326 | exon_skip_154399 | 4.278166e-01 | 1.673768e-08 |
TC | ILF2 | exon_skip_154399 | -4.251749e-01 | 2.092771e-08 |
TC | RBM24 | exon_skip_154399 | -7.761154e-01 | 1.863654e-33 |
TC | RALYL | exon_skip_154399 | -8.558146e-01 | 4.340862e-47 |
TC | CELF1 | exon_skip_154399 | -5.247512e-01 | 1.058221e-12 |
TC | HNRNPH2 | exon_skip_154399 | -6.394559e-01 | 8.979748e-20 |
TC | ESRP1 | exon_skip_154399 | -5.911223e-01 | 1.887101e-16 |
Top |
RelatedDrugs for RNF114 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for RNF114 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |