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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 GRAMD2B |
 Gene summary |
| Gene information | Gene symbol | GRAMD2B | Gene ID | 65983 |
| Gene name | GRAM domain containing 2B | |
| Synonyms | GRAMD3|NS3TP2 | |
| Cytomap | 5q23.2 | |
| Type of gene | protein-coding | |
| Description | GRAM domain-containing protein 2BGRAM domain containing 3GRAM domain-containing protein 3HCV NS3-transactivated protein 2hepatitis C virus nonstructural protein 3-transactivating protein 2 | |
| Modification date | 20200327 | |
| 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 |
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Gene structures and expression levels for GRAMD2B |
| 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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ENSG00000155324
| 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 |
| PCC | UP | ENST00000508523.5 | GRAMD2B-208:retained_intron:GRAMD2B | 8.259582e+00 | 1.091520e+00 | 4.519372e-08 | 3.060878e-05 |
| PCC | UP | ENST00000544396.5 | GRAMD2B-219:protein_coding:GRAMD2B | 1.381649e+02 | 9.991221e-01 | 5.208990e-05 | 3.949107e-03 |
| CB | UP | ENST00000508523.5 | GRAMD2B-208:retained_intron:GRAMD2B | 1.249723e+01 | 9.954706e-01 | 2.258603e-06 | 2.997537e-05 |
| CB | UP | ENST00000514932.5 | GRAMD2B-216:lncRNA:GRAMD2B | 5.877874e+00 | 1.011521e+00 | 2.312527e-05 | 2.140866e-04 |
| TC | UP | ENST00000514932.5 | GRAMD2B-216:lncRNA:GRAMD2B | 2.688369e+01 | 1.135760e+00 | 7.375051e-12 | 2.033031e-09 |
| TC | UP | ENST00000508523.5 | GRAMD2B-208:retained_intron:GRAMD2B | 1.948746e+01 | 1.075930e+00 | 8.603906e-08 | 5.386977e-06 |
| TC | UP | ENST00000511134.1 | GRAMD2B-210:protein_coding:GRAMD2B | 2.116649e+01 | 1.859527e+00 | 1.755165e-03 | 1.519042e-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 GRAMD2B |
| 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_130879 | chr5 | 126477692:126477787:126480456:126480527:126480627:126480707 | 126480456:126480527 |
| exon_skip_136902 | chr5 | 126465431:126465545:126469677:126469788:126472238:126472304 | 126469677:126469788 |
| exon_skip_146843 | chr5 | 126423472:126423689:126445481:126445611:126465426:126465545 | 126445481:126445611 |
| exon_skip_148182 | chr5 | 126465426:126465545:126466294:126466336:126472238:126472304 | 126466294:126466336 |
| exon_skip_163831 | chr5 | 126423472:126423689:126465377:126465545:126469677:126469725 | 126465377:126465545 |
| exon_skip_175186 | chr5 | 126465431:126465545:126466294:126466336:126469677:126469725 | 126466294:126466336 |
| exon_skip_17806 | chr5 | 126465426:126465545:126466294:126466336:126469677:126469725 | 126466294:126466336 |
| exon_skip_178440 | chr5 | 126423472:126423689:126465426:126465545:126472238:126472304 | 126465426:126465545 |
| exon_skip_186589 | chr5 | 126469677:126469788:126472238:126472304:126473265:126473368 | 126472238:126472304 |
| exon_skip_189206 | chr5 | 126423472:126423689:126445481:126445590:126465377:126465545 | 126445481:126445590 |
| exon_skip_190081 | chr5 | 126465426:126465545:126469677:126469788:126472238:126472304 | 126469677:126469788 |
| exon_skip_200728 | chr5 | 126473265:126473368:126477692:126477787:126480456:126480527 | 126477692:126477787 |
| exon_skip_204577 | chr5 | 126466294:126466336:126469677:126469788:126472238:126472304 | 126469677:126469788 |
| exon_skip_213920 | chr5 | 126466294:126466336:126469677:126469788:126472238:126472303 | 126469677:126469788 |
| exon_skip_2243 | chr5 | 126465426:126465545:126472238:126472304:126473265:126473368 | 126472238:126472304 |
| exon_skip_252594 | chr5 | 126465431:126465545:126466294:126466336:126472238:126472304 | 126466294:126466336 |
| exon_skip_294265 | chr5 | 126480627:126480707:126483463:126483574:126484402:126484524 | 126483463:126483574 |
| exon_skip_49371 | chr5 | 126486873:126486977:126488799:126488892:126492915:126493005 | 126488799:126488892 |
| exon_skip_79392 | chr5 | 126423472:126423689:126465426:126465545:126469677:126469725 | 126465426:126465545 |
| exon_skip_83435 | chr5 | 126465431:126465545:126472238:126472304:126473265:126473368 | 126472238:126472304 |
| 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 GRAMD2B |
| 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 |
| ENST00000285689 | 126469677 | 126469788 | Frame-shift |
| ENST00000285689 | 126472238 | 126472304 | Frame-shift |
| ENST00000285689 | 126488799 | 126488892 | Frame-shift |
| ENST00000285689 | 126465426 | 126465545 | In-frame |
| ENST00000285689 | 126477692 | 126477787 | 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 |
| ENST00000285689 | 126469677 | 126469788 | Frame-shift |
| ENST00000285689 | 126477692 | 126477787 | 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 |
| ENST00000285689 | 126469677 | 126469788 | Frame-shift |
| ENST00000285689 | 126483463 | 126483574 | Frame-shift |
| ENST00000285689 | 126488799 | 126488892 | Frame-shift |
| ENST00000285689 | 126465426 | 126465545 | In-frame |
| ENST00000285689 | 126477692 | 126477787 | In-frame |
| ENST00000285689 | 126480456 | 126480527 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GRAMD2B |
p-ENSG00000155324_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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GRAMD2B |
| 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 GRAMD2B |
| - 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 GRAMD2B |
| 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 GRAMD2B |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| PCC | exon_skip_175186 | rs10050399 | chr5:126475085 | 4.980887e-08 | 2.515790e-05 |
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Correlation with RNA binding proteins (RBPs) for GRAMD2B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPK | exon_skip_17806 | 4.789268e-01 | 4.956186e-10 |
| IFG | PTBP3 | exon_skip_17806 | 5.260844e-01 | 4.033926e-03 |
| PCC | RBM3 | exon_skip_136902 | 4.079156e-01 | 6.619779e-10 |
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RelatedDrugs for GRAMD2B |
| 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 GRAMD2B |
| 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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