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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 ANKIB1 |
 Gene summary |
| Gene information | Gene symbol | ANKIB1 | Gene ID | 54467 |
| Gene name | ankyrin repeat and IBR domain containing 1 | |
| Synonyms | - | |
| Cytomap | 7q21.2 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat and IBR domain-containing protein 1 | |
| 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 |
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Gene structures and expression levels for ANKIB1 |
| 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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ENSG00000001629
| 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 |
| CB | UP | ENST00000422095.1 | ANKIB1-203:nonsense_mediated_decay:ANKIB1 | 3.327546e+01 | 1.489702e+00 | 9.990326e-05 | 7.397496e-04 |
| TC | DOWN | ENST00000486698.1 | ANKIB1-207:lncRNA:ANKIB1 | 1.586664e+00 | -8.466603e-01 | 8.701945e-04 | 8.871959e-03 |
| 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 ANKIB1 |
| 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_102522 | chr7 | 92294889:92295166:92307359:92307656:92319330:92319512 | 92307359:92307656 |
| exon_skip_104606 | chr7 | 92327783:92327900:92343024:92343232:92344978:92345066 | 92343024:92343232 |
| exon_skip_124200 | chr7 | 92352476:92352642:92362185:92362273:92371477:92371607 | 92362185:92362273 |
| exon_skip_130672 | chr7 | 92391284:92391344:92392241:92392292:92396365:92396476 | 92392241:92392292 |
| exon_skip_183042 | chr7 | 92391166:92391344:92392241:92392292:92396365:92396476 | 92392241:92392292 |
| exon_skip_19222 | chr7 | 92319422:92319512:92325928:92326008:92327783:92327900 | 92325928:92326008 |
| exon_skip_203824 | chr7 | 92344978:92345066:92347947:92348016:92350950:92351094 | 92347947:92348016 |
| exon_skip_207856 | chr7 | 92319337:92319512:92325928:92326008:92327783:92327900 | 92325928:92326008 |
| exon_skip_225259 | chr7 | 92307359:92307656:92319330:92319512:92327783:92327900 | 92319330:92319512 |
| exon_skip_240963 | chr7 | 92344978:92345066:92350950:92351094:92352476:92352642 | 92350950:92351094 |
| exon_skip_264509 | chr7 | 92391170:92391344:92392241:92392292:92396365:92396476 | 92392241:92392292 |
| exon_skip_26729 | chr7 | 92386509:92386643:92387798:92387884:92387975:92388041 | 92387798:92387884 |
| exon_skip_52627 | chr7 | 92319422:92319512:92327783:92327900:92343024:92343117 | 92327783:92327900 |
| exon_skip_8580 | chr7 | 92371572:92371607:92386509:92386643:92387798:92387884 | 92386509:92386643 |
| exon_skip_91249 | chr7 | 92345029:92345066:92347947:92348016:92350950:92351094 | 92347947:92348016 |
| 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 ANKIB1 |
| 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 |
| ENST00000265742 | 92327783 | 92327900 | Frame-shift |
| ENST00000265742 | 92343024 | 92343232 | Frame-shift |
| ENST00000265742 | 92350950 | 92351094 | Frame-shift |
| ENST00000265742 | 92362185 | 92362273 | Frame-shift |
| ENST00000265742 | 92392241 | 92392292 | Frame-shift |
| ENST00000265742 | 92319330 | 92319512 | In-frame |
| ENST00000265742 | 92386509 | 92386643 | In-frame |
| ENST00000265742 | 92387798 | 92387884 | 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 |
| ENST00000265742 | 92327783 | 92327900 | Frame-shift |
| ENST00000265742 | 92343024 | 92343232 | Frame-shift |
| ENST00000265742 | 92350950 | 92351094 | Frame-shift |
| ENST00000265742 | 92362185 | 92362273 | Frame-shift |
| ENST00000265742 | 92392241 | 92392292 | Frame-shift |
| ENST00000265742 | 92319330 | 92319512 | In-frame |
| ENST00000265742 | 92386509 | 92386643 | In-frame |
| ENST00000265742 | 92387798 | 92387884 | 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 |
| ENST00000265742 | 92307359 | 92307656 | Frame-shift |
| ENST00000265742 | 92327783 | 92327900 | Frame-shift |
| ENST00000265742 | 92343024 | 92343232 | Frame-shift |
| ENST00000265742 | 92350950 | 92351094 | Frame-shift |
| ENST00000265742 | 92362185 | 92362273 | Frame-shift |
| ENST00000265742 | 92392241 | 92392292 | Frame-shift |
| ENST00000265742 | 92319330 | 92319512 | In-frame |
| ENST00000265742 | 92386509 | 92386643 | In-frame |
| ENST00000265742 | 92387798 | 92387884 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANKIB1 |
p-ENSG00000001629_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 |
| ENST00000265742 | 6098 | 1089 | 92319330 | 92319512 | 864 | 1045 | 162 | 223 |
| ENST00000265742 | 6098 | 1089 | 92386509 | 92386643 | 1995 | 2128 | 539 | 584 |
| ENST00000265742 | 6098 | 1089 | 92387798 | 92387884 | 2130 | 2215 | 584 | 613 |
| 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 |
| ENST00000265742 | 6098 | 1089 | 92319330 | 92319512 | 864 | 1045 | 162 | 223 |
| ENST00000265742 | 6098 | 1089 | 92386509 | 92386643 | 1995 | 2128 | 539 | 584 |
| ENST00000265742 | 6098 | 1089 | 92387798 | 92387884 | 2130 | 2215 | 584 | 613 |
| 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 |
| ENST00000265742 | 6098 | 1089 | 92319330 | 92319512 | 864 | 1045 | 162 | 223 |
| ENST00000265742 | 6098 | 1089 | 92386509 | 92386643 | 1995 | 2128 | 539 | 584 |
| ENST00000265742 | 6098 | 1089 | 92387798 | 92387884 | 2130 | 2215 | 584 | 613 |
| 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 |
| Q9P2G1 | 162 | 223 | 2 | 1089 | Chain | ID=PRO_0000066892;Note=Ankyrin repeat and IBR domain-containing protein 1 |
| Q9P2G1 | 162 | 223 | 144 | 173 | Repeat | Note=ANK 2 |
| Q9P2G1 | 539 | 584 | 2 | 1089 | Chain | ID=PRO_0000066892;Note=Ankyrin repeat and IBR domain-containing protein 1 |
| Q9P2G1 | 539 | 584 | 575 | 640 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9P2G1 | 539 | 584 | 519 | 548 | Zinc finger | Note=RING-type 2%3B degenerate;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 |
| Q9P2G1 | 584 | 613 | 2 | 1089 | Chain | ID=PRO_0000066892;Note=Ankyrin repeat and IBR domain-containing protein 1 |
| Q9P2G1 | 584 | 613 | 575 | 640 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9P2G1 | 162 | 223 | 2 | 1089 | Chain | ID=PRO_0000066892;Note=Ankyrin repeat and IBR domain-containing protein 1 |
| Q9P2G1 | 162 | 223 | 144 | 173 | Repeat | Note=ANK 2 |
| Q9P2G1 | 539 | 584 | 2 | 1089 | Chain | ID=PRO_0000066892;Note=Ankyrin repeat and IBR domain-containing protein 1 |
| Q9P2G1 | 539 | 584 | 575 | 640 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9P2G1 | 539 | 584 | 519 | 548 | Zinc finger | Note=RING-type 2%3B degenerate;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 |
| Q9P2G1 | 584 | 613 | 2 | 1089 | Chain | ID=PRO_0000066892;Note=Ankyrin repeat and IBR domain-containing protein 1 |
| Q9P2G1 | 584 | 613 | 575 | 640 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9P2G1 | 162 | 223 | 2 | 1089 | Chain | ID=PRO_0000066892;Note=Ankyrin repeat and IBR domain-containing protein 1 |
| Q9P2G1 | 162 | 223 | 144 | 173 | Repeat | Note=ANK 2 |
| Q9P2G1 | 539 | 584 | 2 | 1089 | Chain | ID=PRO_0000066892;Note=Ankyrin repeat and IBR domain-containing protein 1 |
| Q9P2G1 | 539 | 584 | 575 | 640 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9P2G1 | 539 | 584 | 519 | 548 | Zinc finger | Note=RING-type 2%3B degenerate;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 |
| Q9P2G1 | 584 | 613 | 2 | 1089 | Chain | ID=PRO_0000066892;Note=Ankyrin repeat and IBR domain-containing protein 1 |
| Q9P2G1 | 584 | 613 | 575 | 640 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ANKIB1 |
| 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 ANKIB1 |
| - 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 ANKIB1 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_104606 | -4.741329e-01 | 1.080456e-02 | chr7 | + | 92327783 | 92327900 | 92343024 | 92343232 | 92344978 | 92345066 |
| CDR | MSBB | IFG | exon_skip_287245 | 4.533307e-01 | 1.540380e-02 | chr7 | + | 92327783 | 92327900 | 92333628 | 92333720 | 92343024 | 92343117 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKIB1 |
| 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 ANKIB1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ANKIB1 |
| 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 ANKIB1 |
| 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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