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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 ADD2 |
 Gene summary |
| Gene information | Gene symbol | ADD2 | Gene ID | 119 |
| Gene name | adducin 2 | |
| Synonyms | ADDB | |
| Cytomap | 2p13.3 | |
| Type of gene | protein-coding | |
| Description | beta-adducinadducin 2 (beta)erythrocyte adducin subunit beta | |
| 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 |
| ADD2 | GO:0032092 | positive regulation of protein binding | 3693401|7642559 |
| ADD2 | GO:0051016 | barbed-end actin filament capping | 8626479 |
| ADD2 | GO:0051017 | actin filament bundle assembly | 3693401 |
| ADD2 | GO:0065003 | protein-containing complex assembly | 18347014 |
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Gene structures and expression levels for ADD2 |
| 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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ENSG00000075340
| 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 |
| PG | DOWN | ENST00000496178.1 | ADD2-213:lncRNA:ADD2 | 1.590727e+00 | -8.598273e-01 | 4.455745e-03 | 4.217891e-02 |
| CB | UP | ENST00000413157.6 | ADD2-205:protein_coding:ADD2 | 4.802497e+02 | 9.493541e-01 | 7.248399e-19 | 2.172508e-15 |
| 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 ADD2 |
| 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_127031 | chr2 | 70706413:70706442:70711133:70711250:70713066:70713184 | 70711133:70711250 |
| exon_skip_199060 | chr2 | 70672878:70673006:70673241:70673326:70674678:70674695 | 70673241:70673326 |
| exon_skip_235784 | chr2 | 70696291:70696396:70704321:70704459:70706226:70706318 | 70704321:70704459 |
| exon_skip_259565 | chr2 | 70713070:70713184:70760606:70760701:70767886:70768225 | 70760606:70760701 |
| exon_skip_263328 | chr2 | 70678704:70678961:70683591:70683767:70688024:70688122 | 70683591:70683767 |
| exon_skip_278790 | chr2 | 70713070:70713184:70741341:70741406:70767886:70768177 | 70741341:70741406 |
| exon_skip_48272 | chr2 | 70706226:70706442:70713066:70713184:70767886:70768197 | 70713066:70713184 |
| exon_skip_50228 | chr2 | 70672878:70673006:70673241:70673326:70674678:70674825 | 70673241:70673326 |
| exon_skip_53480 | chr2 | 70706413:70706442:70713066:70713184:70767886:70768177 | 70713066:70713184 |
| exon_skip_57423 | chr2 | 70696291:70696396:70704321:70704459:70706226:70706408 | 70704321:70704459 |
| exon_skip_6069 | chr2 | 70713066:70713184:70741341:70741406:70767886:70768196 | 70741341:70741406 |
| 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 ADD2 |
| 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 |
| ENST00000264436 | 70713066 | 70713184 | 3UTR-3UTR |
| ENST00000264436 | 70704321 | 70704459 | Frame-shift |
| ENST00000407644 | 70704321 | 70704459 | Frame-shift |
| ENST00000264436 | 70683591 | 70683767 | In-frame |
| ENST00000407644 | 70683591 | 70683767 | 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 |
| ENST00000264436 | 70713066 | 70713184 | 3UTR-3UTR |
| ENST00000264436 | 70683591 | 70683767 | In-frame |
| ENST00000407644 | 70683591 | 70683767 | 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 |
| ENST00000264436 | 70713066 | 70713184 | 3UTR-3UTR |
| ENST00000264436 | 70704321 | 70704459 | Frame-shift |
| ENST00000407644 | 70704321 | 70704459 | Frame-shift |
| ENST00000264436 | 70683591 | 70683767 | In-frame |
| ENST00000407644 | 70683591 | 70683767 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ADD2 |
p-ENSG00000075340_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 |
| ENST00000264436 | 9284 | 726 | 70683591 | 70683767 | 1394 | 1569 | 316 | 374 |
| ENST00000407644 | 3758 | 726 | 70683591 | 70683767 | 1214 | 1389 | 316 | 374 |
| 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 |
| ENST00000264436 | 9284 | 726 | 70683591 | 70683767 | 1394 | 1569 | 316 | 374 |
| ENST00000407644 | 3758 | 726 | 70683591 | 70683767 | 1214 | 1389 | 316 | 374 |
| 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 |
| ENST00000264436 | 9284 | 726 | 70683591 | 70683767 | 1394 | 1569 | 316 | 374 |
| ENST00000407644 | 3758 | 726 | 70683591 | 70683767 | 1214 | 1389 | 316 | 374 |
| 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 |
| P35612 | 316 | 374 | 78 | 566 | Alternative sequence | ID=VSP_017241;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 78 | 566 | Alternative sequence | ID=VSP_017241;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 188 | 493 | Alternative sequence | ID=VSP_017242;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 188 | 493 | Alternative sequence | ID=VSP_017242;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 1 | 726 | Chain | ID=PRO_0000218533;Note=Beta-adducin |
| P35612 | 316 | 374 | 1 | 726 | Chain | ID=PRO_0000218533;Note=Beta-adducin |
| P35612 | 316 | 374 | 344 | 344 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QYB8 |
| P35612 | 316 | 374 | 344 | 344 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QYB8 |
| P35612 | 316 | 374 | 335 | 335 | Natural variant | ID=VAR_014867;Note=E->D;Dbxref=dbSNP:rs4982 |
| P35612 | 316 | 374 | 335 | 335 | Natural variant | ID=VAR_014867;Note=E->D;Dbxref=dbSNP:rs4982 |
| 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 |
| P35612 | 316 | 374 | 78 | 566 | Alternative sequence | ID=VSP_017241;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 78 | 566 | Alternative sequence | ID=VSP_017241;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 188 | 493 | Alternative sequence | ID=VSP_017242;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 188 | 493 | Alternative sequence | ID=VSP_017242;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 1 | 726 | Chain | ID=PRO_0000218533;Note=Beta-adducin |
| P35612 | 316 | 374 | 1 | 726 | Chain | ID=PRO_0000218533;Note=Beta-adducin |
| P35612 | 316 | 374 | 344 | 344 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QYB8 |
| P35612 | 316 | 374 | 344 | 344 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QYB8 |
| P35612 | 316 | 374 | 335 | 335 | Natural variant | ID=VAR_014867;Note=E->D;Dbxref=dbSNP:rs4982 |
| P35612 | 316 | 374 | 335 | 335 | Natural variant | ID=VAR_014867;Note=E->D;Dbxref=dbSNP:rs4982 |
| 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 |
| P35612 | 316 | 374 | 78 | 566 | Alternative sequence | ID=VSP_017241;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 78 | 566 | Alternative sequence | ID=VSP_017241;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 188 | 493 | Alternative sequence | ID=VSP_017242;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 188 | 493 | Alternative sequence | ID=VSP_017242;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12951058;Dbxref=PMID:12951058 |
| P35612 | 316 | 374 | 1 | 726 | Chain | ID=PRO_0000218533;Note=Beta-adducin |
| P35612 | 316 | 374 | 1 | 726 | Chain | ID=PRO_0000218533;Note=Beta-adducin |
| P35612 | 316 | 374 | 344 | 344 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QYB8 |
| P35612 | 316 | 374 | 344 | 344 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QYB8 |
| P35612 | 316 | 374 | 335 | 335 | Natural variant | ID=VAR_014867;Note=E->D;Dbxref=dbSNP:rs4982 |
| P35612 | 316 | 374 | 335 | 335 | Natural variant | ID=VAR_014867;Note=E->D;Dbxref=dbSNP:rs4982 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ADD2 |
| 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 |
| Mayo | ENST00000264436 | 70713066 | 70713184 | hsa-miR-6732-5p | chr2:70713120-70713127 | 8mer-1a | chr2:70713109-70713127 | 168.00 | -33.10 |
| Mayo | ENST00000264436 | 70713066 | 70713184 | hsa-miR-6500-5p | chr2:70713126-70713133 | 8mer-1a | chr2:70713110-70713136 | 171.00 | -30.03 |
| Mayo | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4693-3p | chr2:70713132-70713139 | 8mer-1a | chr2:70713117-70713139 | 153.00 | -18.57 |
| Mayo | ENST00000264436 | 70713066 | 70713184 | hsa-miR-377-5p | chr2:70713161-70713168 | 8mer-1a | chr2:70713159-70713180 | 160.00 | -29.15 |
| Mayo | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4520-3p | chr2:70713084-70713091 | 8mer-1a | chr2:70713080-70713102 | 145.00 | -26.63 |
| Mayo | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4771 | chr2:70713113-70713120 | 8mer-1a | chr2:70713109-70713127 | 168.00 | -33.10 |
| Mayo | ENST00000264436 | 70713066 | 70713184 | hsa-miR-576-3p | chr2:70713151-70713158 | 8mer-1a | chr2:70713149-70713168 | 150.00 | -16.31 |
| Mayo | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4633-3p | chr2:70713126-70713133 | 8mer-1a | chr2:70713110-70713136 | 171.00 | -30.03 |
| Mayo | ENST00000264436 | 70713066 | 70713184 | hsa-miR-6086 | chr2:70713161-70713168 | 8mer-1a | chr2:70713159-70713180 | 160.00 | -29.15 |
| MSBB | ENST00000264436 | 70713066 | 70713184 | hsa-miR-6732-5p | chr2:70713120-70713127 | 8mer-1a | chr2:70713109-70713127 | 168.00 | -33.10 |
| MSBB | ENST00000264436 | 70713066 | 70713184 | hsa-miR-6500-5p | chr2:70713126-70713133 | 8mer-1a | chr2:70713110-70713136 | 171.00 | -30.03 |
| MSBB | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4693-3p | chr2:70713132-70713139 | 8mer-1a | chr2:70713117-70713139 | 153.00 | -18.57 |
| MSBB | ENST00000264436 | 70713066 | 70713184 | hsa-miR-377-5p | chr2:70713161-70713168 | 8mer-1a | chr2:70713159-70713180 | 160.00 | -29.15 |
| MSBB | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4520-3p | chr2:70713084-70713091 | 8mer-1a | chr2:70713080-70713102 | 145.00 | -26.63 |
| MSBB | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4771 | chr2:70713113-70713120 | 8mer-1a | chr2:70713109-70713127 | 168.00 | -33.10 |
| MSBB | ENST00000264436 | 70713066 | 70713184 | hsa-miR-576-3p | chr2:70713151-70713158 | 8mer-1a | chr2:70713149-70713168 | 150.00 | -16.31 |
| MSBB | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4633-3p | chr2:70713126-70713133 | 8mer-1a | chr2:70713110-70713136 | 171.00 | -30.03 |
| MSBB | ENST00000264436 | 70713066 | 70713184 | hsa-miR-6086 | chr2:70713161-70713168 | 8mer-1a | chr2:70713159-70713180 | 160.00 | -29.15 |
| ROSMAP | ENST00000264436 | 70713066 | 70713184 | hsa-miR-6732-5p | chr2:70713120-70713127 | 8mer-1a | chr2:70713109-70713127 | 168.00 | -33.10 |
| ROSMAP | ENST00000264436 | 70713066 | 70713184 | hsa-miR-6500-5p | chr2:70713126-70713133 | 8mer-1a | chr2:70713110-70713136 | 171.00 | -30.03 |
| ROSMAP | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4693-3p | chr2:70713132-70713139 | 8mer-1a | chr2:70713117-70713139 | 153.00 | -18.57 |
| ROSMAP | ENST00000264436 | 70713066 | 70713184 | hsa-miR-377-5p | chr2:70713161-70713168 | 8mer-1a | chr2:70713159-70713180 | 160.00 | -29.15 |
| ROSMAP | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4520-3p | chr2:70713084-70713091 | 8mer-1a | chr2:70713080-70713102 | 145.00 | -26.63 |
| ROSMAP | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4771 | chr2:70713113-70713120 | 8mer-1a | chr2:70713109-70713127 | 168.00 | -33.10 |
| ROSMAP | ENST00000264436 | 70713066 | 70713184 | hsa-miR-576-3p | chr2:70713151-70713158 | 8mer-1a | chr2:70713149-70713168 | 150.00 | -16.31 |
| ROSMAP | ENST00000264436 | 70713066 | 70713184 | hsa-miR-4633-3p | chr2:70713126-70713133 | 8mer-1a | chr2:70713110-70713136 | 171.00 | -30.03 |
| ROSMAP | ENST00000264436 | 70713066 | 70713184 | hsa-miR-6086 | chr2:70713161-70713168 | 8mer-1a | chr2:70713159-70713180 | 160.00 | -29.15 |
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SNVs in the skipped exons for ADD2 |
| - 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 ADD2 |
| 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 ADD2 |
| 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 ADD2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ADD2 |
| 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 ADD2 |
| 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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