|
||||||
|
 | |
| |
| |
| 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 GOLT1B |
 Gene summary |
| Gene information | Gene symbol | GOLT1B | Gene ID | 51026 |
| Gene name | golgi transport 1B | |
| Synonyms | CGI-141|GCT2|GOT1|GOT1B|YMR292W | |
| Cytomap | 12p12.1 | |
| Type of gene | protein-coding | |
| Description | vesicle transport protein GOT1Bgerm cell tumor 2hGOT1aputative NF-kappa-B-activating protein 470 | |
| 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 GOLT1B |
| 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. |
 |
ENSG00000111711
| 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 |
| PG | DOWN | ENST00000545113.1 | GOLT1B-209:retained_intron:GOLT1B | 7.012572e+00 | -8.016315e-01 | 6.747188e-06 | 3.748270e-04 |
| CB | UP | ENST00000539025.5 | GOLT1B-203:nonsense_mediated_decay:GOLT1B | 2.135340e+01 | 1.219736e+00 | 6.027199e-04 | 3.378028e-03 |
| CB | UP | ENST00000535593.5 | GOLT1B-202:lncRNA:GOLT1B | 6.602604e+00 | 1.168401e+00 | 3.478670e-03 | 1.458023e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GOLT1B |
| 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_100559 | chr12 | 21512295:21512376:21515238:21515270:21515669:21515746 | 21515238:21515270 |
| exon_skip_152521 | chr12 | 21501793:21501948:21506885:21506976:21508383:21508470 | 21506885:21506976 |
| exon_skip_157160 | chr12 | 21501853:21501948:21506885:21506976:21508383:21508561 | 21506885:21506976 |
| exon_skip_195064 | chr12 | 21506885:21506976:21507117:21507151:21508383:21508470 | 21507117:21507151 |
| exon_skip_250469 | chr12 | 21501781:21501948:21506885:21506976:21512295:21512376 | 21506885:21506976 |
| exon_skip_269141 | chr12 | 21506885:21506976:21507944:21508109:21508383:21508470 | 21507944:21508109 |
| exon_skip_2693 | chr12 | 21501853:21501948:21508383:21508561:21512295:21512376 | 21508383:21508561 |
| exon_skip_3759 | chr12 | 21506885:21506976:21508383:21508561:21512295:21512376 | 21508383:21508561 |
| exon_skip_45504 | chr12 | 21501793:21501948:21508383:21508561:21512295:21512376 | 21508383:21508561 |
| exon_skip_52575 | chr12 | 21501793:21501948:21506885:21506976:21508383:21508561 | 21506885:21506976 |
| exon_skip_53394 | chr12 | 21501853:21501948:21506885:21506976:21512295:21512376 | 21506885:21506976 |
| exon_skip_60526 | chr12 | 21507944:21508109:21508383:21508561:21512295:21512376 | 21508383:21508561 |
| exon_skip_73689 | chr12 | 21512295:21512376:21515238:21515270:21515669:21515701 | 21515238:21515270 |
| exon_skip_94104 | chr12 | 21506885:21506976:21507117:21507151:21508383:21508561 | 21507117:21507151 |
| exon_skip_99094 | chr12 | 21506885:21506976:21507944:21508109:21508383:21508561 | 21507944:21508109 |
| 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_100559 | MSBB_PG | 1.000926e-01 | 2.388889e-01 | -1.387963e-01 | 2.363479e-02 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for GOLT1B |
| 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 |
| ENST00000229314 | 21506885 | 21506976 | Frame-shift |
| ENST00000229314 | 21508383 | 21508561 | Frame-shift |
| 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 |
| ENST00000229314 | 21508383 | 21508561 | Frame-shift |
| 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 |
| ENST00000229314 | 21506885 | 21506976 | Frame-shift |
| ENST00000229314 | 21508383 | 21508561 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for GOLT1B |
p-ENSG00000111711_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in GOLT1B |
| 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 GOLT1B |
| - 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 GOLT1B |
| 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 GOLT1B |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_100559 | rs10841843 | chr12:21538957 | 9.133603e-06 | 1.156220e-03 |
| HCC | exon_skip_100559 | rs10770836 | chr12:21563807 | 2.523748e-04 | 1.960777e-02 |
| HCC | exon_skip_100559 | rs6487236 | chr12:21546982 | 2.712143e-04 | 2.076772e-02 |
| HCC | exon_skip_100559 | rs10841848 | chr12:21556620 | 2.712143e-04 | 2.076772e-02 |
| HCC | exon_skip_100559 | rs11046116 | chr12:21556685 | 2.712143e-04 | 2.076772e-02 |
| HCC | exon_skip_100559 | rs11046122 | chr12:21564087 | 5.157280e-04 | 3.475313e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for GOLT1B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPA0 | exon_skip_99094 | 4.003225e-01 | 1.253495e-06 |
| CB | HNRNPDL | exon_skip_99094 | 4.778183e-01 | 3.539604e-09 |
| CB | TRA2A | exon_skip_100559 | -4.667762e-01 | 8.145830e-10 |
| HCC | RBMS2 | exon_skip_99094 | -4.253085e-01 | 2.753022e-13 |
| HCC | RBM6 | exon_skip_99094 | -4.243176e-01 | 3.166392e-13 |
| HCC | PTBP1 | exon_skip_99094 | -4.714087e-01 | 2.415237e-16 |
| HCC | SFPQ | exon_skip_100559 | -4.607638e-01 | 1.059529e-15 |
| HCC | FUBP1 | exon_skip_100559 | -4.214608e-01 | 3.873763e-13 |
| IFG | PCBP1 | exon_skip_99094 | -5.077444e-01 | 9.568286e-03 |
| IFG | HNRNPAB | exon_skip_3759 | -4.656914e-01 | 1.897226e-02 |
| IFG | HNRNPF | exon_skip_3759 | -4.516231e-01 | 2.343584e-02 |
| IFG | RBMS3 | exon_skip_100559 | -5.768835e-01 | 1.310595e-03 |
| IFG | TRA2A | exon_skip_100559 | -6.580678e-01 | 1.411206e-04 |
| IFG | FUBP1 | exon_skip_100559 | -5.347361e-01 | 3.371683e-03 |
| PG | CELF1 | exon_skip_100559 | 4.328868e-01 | 2.290202e-08 |
| STG | PABPN1 | exon_skip_73689 | 4.476185e-01 | 1.295662e-04 |
| STG | CELF1 | exon_skip_73689 | 4.843572e-01 | 2.849727e-05 |
| TC | KHDRBS2 | exon_skip_269141 | 6.570422e-01 | 9.065737e-20 |
| TC | KHDRBS3 | exon_skip_269141 | 5.496507e-01 | 3.881819e-13 |
| TC | RBM24 | exon_skip_269141 | 5.539047e-01 | 2.346259e-13 |
| TC | HNRNPA0 | exon_skip_269141 | 5.801230e-01 | 8.947658e-15 |
| TC | HNRNPDL | exon_skip_269141 | 4.295946e-01 | 4.571684e-08 |
| TC | HNRNPD | exon_skip_269141 | 5.643831e-01 | 6.581925e-14 |
| TC | NUP42 | exon_skip_269141 | 5.220315e-01 | 8.637104e-12 |
| TC | RALYL | exon_skip_269141 | 6.284929e-01 | 9.413066e-18 |
| TC | PTBP1 | exon_skip_269141 | -4.463743e-01 | 1.158366e-08 |
| TC | PTBP3 | exon_skip_269141 | 4.070548e-01 | 2.580491e-07 |
| TC | HNRNPD | exon_skip_73689 | 5.753564e-01 | 2.635233e-15 |
| TC | CELF1 | exon_skip_73689 | 4.257823e-01 | 2.443296e-08 |
Top |
RelatedDrugs for GOLT1B |
| 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 GOLT1B |
| 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)
|