|
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 BANK1 |
Gene summary |
Gene information | Gene symbol | BANK1 | Gene ID | 55024 |
Gene name | B cell scaffold protein with ankyrin repeats 1 | |
Synonyms | BANK | |
Cytomap | 4q24 | |
Type of gene | protein-coding | |
Description | B-cell scaffold protein with ankyrin repeats | |
Modification date | 20200313 | |
UniProtAcc | Q8NDB2, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
BANK1 | GO:0042113 | B cell activation | 11782428 |
Top |
Gene structures and expression levels for BANK1 |
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 BANK1 |
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_110799 | chr4 | 101790730:101790950:101829808:101830206:101855035:101855189 | 101829808:101830206 |
exon_skip_171285 | chr4 | 102025201:102025509:102029960:102030265:102043839:102043907 | 102029960:102030265 |
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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for BANK1 |
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 |
ENST00000322953 | 101829808 | 101830206 | In-frame |
ENST00000322953 | 102029960 | 102030265 | 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 |
ENST00000322953 | 101829808 | 101830206 | 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 |
ENST00000322953 | 101829808 | 101830206 | In-frame |
ENST00000322953 | 102029960 | 102030265 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for BANK1 |
p-ENSG00000153064_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 |
ENST00000322953 | 3389 | 785 | 101829808 | 101830206 | 346 | 743 | 24 | 156 |
ENST00000322953 | 3389 | 785 | 102029960 | 102030265 | 1870 | 2174 | 532 | 633 |
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 |
ENST00000322953 | 3389 | 785 | 101829808 | 101830206 | 346 | 743 | 24 | 156 |
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 |
ENST00000322953 | 3389 | 785 | 101829808 | 101830206 | 346 | 743 | 24 | 156 |
ENST00000322953 | 3389 | 785 | 102029960 | 102030265 | 1870 | 2174 | 532 | 633 |
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 |
Q8NDB2 | 24 | 156 | 1 | 30 | Alternative sequence | ID=VSP_020803;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11782428,ECO:0000303|PubMed:14702039;Dbxref=PMID:11782428,PMID:14702039 |
Q8NDB2 | 24 | 156 | 24 | 156 | Alternative sequence | ID=VSP_034214;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18204447;Dbxref=PMID:18204447 |
Q8NDB2 | 24 | 156 | 1 | 785 | Chain | ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats |
Q8NDB2 | 24 | 156 | 61 | 61 | Natural variant | ID=VAR_027729;Note=Polymorphism%3B may influence susceptibility to SLE. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs10516487,PMID:18204447 |
Q8NDB2 | 24 | 156 | 1 | 154 | Region | Note=Interaction with ITPR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782428;Dbxref=PMID:11782428 |
Q8NDB2 | 24 | 156 | 143 | 143 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDB2 | 532 | 633 | 1 | 785 | Chain | ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats |
Q8NDB2 | 532 | 633 | 557 | 557 | Sequence conflict | Note=E->D;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 |
Q8NDB2 | 24 | 156 | 1 | 30 | Alternative sequence | ID=VSP_020803;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11782428,ECO:0000303|PubMed:14702039;Dbxref=PMID:11782428,PMID:14702039 |
Q8NDB2 | 24 | 156 | 24 | 156 | Alternative sequence | ID=VSP_034214;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18204447;Dbxref=PMID:18204447 |
Q8NDB2 | 24 | 156 | 1 | 785 | Chain | ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats |
Q8NDB2 | 24 | 156 | 61 | 61 | Natural variant | ID=VAR_027729;Note=Polymorphism%3B may influence susceptibility to SLE. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs10516487,PMID:18204447 |
Q8NDB2 | 24 | 156 | 1 | 154 | Region | Note=Interaction with ITPR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782428;Dbxref=PMID:11782428 |
Q8NDB2 | 24 | 156 | 143 | 143 | Sequence conflict | Note=P->L;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 |
Q8NDB2 | 24 | 156 | 1 | 30 | Alternative sequence | ID=VSP_020803;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11782428,ECO:0000303|PubMed:14702039;Dbxref=PMID:11782428,PMID:14702039 |
Q8NDB2 | 24 | 156 | 24 | 156 | Alternative sequence | ID=VSP_034214;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18204447;Dbxref=PMID:18204447 |
Q8NDB2 | 24 | 156 | 1 | 785 | Chain | ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats |
Q8NDB2 | 24 | 156 | 61 | 61 | Natural variant | ID=VAR_027729;Note=Polymorphism%3B may influence susceptibility to SLE. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18204447;Dbxref=dbSNP:rs10516487,PMID:18204447 |
Q8NDB2 | 24 | 156 | 1 | 154 | Region | Note=Interaction with ITPR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782428;Dbxref=PMID:11782428 |
Q8NDB2 | 24 | 156 | 143 | 143 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDB2 | 532 | 633 | 1 | 785 | Chain | ID=PRO_0000251927;Note=B-cell scaffold protein with ankyrin repeats |
Q8NDB2 | 532 | 633 | 557 | 557 | Sequence conflict | Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in BANK1 |
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 BANK1 |
- 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 BANK1 |
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 BANK1 |
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 BANK1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for BANK1 |
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 BANK1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |