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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 ANKS6 |
 Gene summary |
| Gene information | Gene symbol | ANKS6 | Gene ID | 203286 |
| Gene name | ankyrin repeat and sterile alpha motif domain containing 6 | |
| Synonyms | ANKRD14|NPHP16|PKDR1|SAMD6 | |
| Cytomap | 9q22.33 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat and SAM domain-containing protein 6SAM domain-containing protein 6ankyrin repeat domain 14samCystin | |
| Modification date | 20200320 | |
| 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 ANKS6 |
| 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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ENSG00000165138
| 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. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ANKS6 |
| 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_114071 | chr9 | 98745564:98745675:98751029:98751096:98756420:98756603 | 98751029:98751096 |
| exon_skip_114885 | chr9 | 98745559:98745675:98751029:98751096:98756420:98756603 | 98751029:98751096 |
| exon_skip_119983 | chr9 | 98751029:98751096:98756420:98756606:98768081:98768250 | 98756420:98756606 |
| exon_skip_182515 | chr9 | 98745564:98745675:98746060:98746094:98751029:98751096 | 98746060:98746094 |
| exon_skip_225558 | chr9 | 98756420:98756606:98768081:98768250:98770896:98771046 | 98768081:98768250 |
| exon_skip_236952 | chr9 | 98745559:98745675:98746060:98746094:98751029:98751096 | 98746060:98746094 |
| exon_skip_238767 | chr9 | 98783953:98784157:98784832:98784876:98790104:98790496 | 98784832:98784876 |
| exon_skip_247698 | chr9 | 98756420:98756603:98768081:98768250:98770896:98771046 | 98768081:98768250 |
| exon_skip_29207 | chr9 | 98778226:98778424:98780189:98780337:98782467:98782573 | 98780189:98780337 |
| exon_skip_295127 | chr9 | 98751029:98751096:98756420:98756603:98768081:98768250 | 98756420:98756603 |
| exon_skip_36208 | chr9 | 98773877:98774080:98777405:98777454:98778226:98778424 | 98777405:98777454 |
| exon_skip_36453 | chr9 | 98732013:98732553:98736527:98736623:98745559:98745675 | 98736527:98736623 |
| exon_skip_40290 | chr9 | 98780189:98780337:98782467:98782573:98783953:98784157 | 98782467:98782573 |
| exon_skip_40652 | chr9 | 98784832:98784876:98790104:98790606:98796133:98796539 | 98790104:98790606 |
| exon_skip_45402 | chr9 | 98732013:98732553:98736496:98736623:98745559:98745675 | 98736496:98736623 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_182515 | Mayo_CB | 2.929268e-01 | 4.287013e-01 | -1.357745e-01 | 5.314829e-07 |
| exon_skip_247698 | Mayo_CB | 7.657317e-01 | 8.753247e-01 | -1.095930e-01 | 2.963838e-06 |
| exon_skip_225558 | Mayo_CB | 7.307317e-01 | 8.639189e-01 | -1.331872e-01 | 5.278818e-06 |
| exon_skip_182515 | Mayo_TC | 2.484146e-01 | 3.593590e-01 | -1.109443e-01 | 5.897378e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for ANKS6 |
| 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 |
| ENST00000353234 | 98768081 | 98768250 | Frame-shift |
| ENST00000353234 | 98780189 | 98780337 | Frame-shift |
| ENST00000353234 | 98782467 | 98782573 | Frame-shift |
| ENST00000353234 | 98790104 | 98790606 | 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 |
| ENST00000353234 | 98756420 | 98756603 | Frame-shift |
| ENST00000353234 | 98768081 | 98768250 | Frame-shift |
| ENST00000353234 | 98782467 | 98782573 | Frame-shift |
| ENST00000353234 | 98790104 | 98790606 | 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 |
| ENST00000353234 | 98751029 | 98751096 | Frame-shift |
| ENST00000353234 | 98756420 | 98756603 | Frame-shift |
| ENST00000353234 | 98768081 | 98768250 | Frame-shift |
| ENST00000353234 | 98777405 | 98777454 | Frame-shift |
| ENST00000353234 | 98780189 | 98780337 | Frame-shift |
| ENST00000353234 | 98782467 | 98782573 | Frame-shift |
| ENST00000353234 | 98790104 | 98790606 | Frame-shift |
| ENST00000353234 | 98784832 | 98784876 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANKS6 |
p-ENSG00000165138_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 |
| ENST00000353234 | 7181 | 871 | 98784832 | 98784876 | 911 | 954 | 287 | 302 |
| 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 |
| Q68DC2 | 287 | 302 | 288 | 335 | Alternative sequence | ID=VSP_016496;Note=In isoform 2. DEEKRRPDIFHALKMGNFQLVKEIADEDPSHVNLVNGDGATPLMLAAV->GQAACPPWLHRGPQIVFMWLKLRIALLEGHAELRVQPCRPLRLRKWCA;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q68DC2 | 287 | 302 | 1 | 871 | Chain | ID=PRO_0000067065;Note=Ankyrin repeat and SAM domain-containing protein 6 |
| Q68DC2 | 287 | 302 | 257 | 289 | Repeat | Note=ANK 7 |
| Q68DC2 | 287 | 302 | 291 | 321 | Repeat | Note=ANK 8 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ANKS6 |
| 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 ANKS6 |
| - 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 ANKS6 |
| 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 ANKS6 |
| 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 ANKS6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_182515 | -4.469429e-01 | 3.512298e-09 |
| CB | PCBP1 | exon_skip_247698 | -4.180566e-01 | 4.179064e-08 |
| CB | PCBP4 | exon_skip_247698 | 5.387231e-01 | 2.390993e-13 |
| CB | NUP42 | exon_skip_247698 | 4.085746e-01 | 8.967762e-08 |
| CB | RBM23 | exon_skip_247698 | -4.293527e-01 | 1.630975e-08 |
| CB | PCBP1 | exon_skip_225558 | -4.621954e-01 | 1.248652e-09 |
| CB | PCBP4 | exon_skip_225558 | 5.544814e-01 | 5.919466e-14 |
| CB | NUP42 | exon_skip_225558 | 4.295122e-01 | 2.204895e-08 |
| CB | RBM23 | exon_skip_225558 | -4.111819e-01 | 9.707938e-08 |
| CB | SAMD4A | exon_skip_29207 | -5.373079e-01 | 2.836233e-13 |
| CB | CNOT4 | exon_skip_29207 | -5.341245e-01 | 4.152453e-13 |
| CB | PCBP1 | exon_skip_29207 | -5.198477e-01 | 2.187222e-12 |
| CB | PCBP4 | exon_skip_29207 | 5.116266e-01 | 5.500252e-12 |
| CB | RBM23 | exon_skip_29207 | -4.484458e-01 | 3.067869e-09 |
| CB | HNRNPF | exon_skip_29207 | -4.294111e-01 | 1.622916e-08 |
| CB | SAMD4A | exon_skip_139926 | -4.383470e-01 | 9.428808e-08 |
| CB | CNOT4 | exon_skip_139926 | -4.661865e-01 | 1.066503e-08 |
| CB | PCBP1 | exon_skip_139926 | -4.973612e-01 | 7.289631e-10 |
| CB | PCBP4 | exon_skip_139926 | 5.203421e-01 | 8.424722e-11 |
| DLPFC | RBM5 | exon_skip_182515 | 4.304976e-01 | 5.264751e-16 |
| DLPFC | CELF1 | exon_skip_182515 | 4.460179e-01 | 3.409403e-17 |
| DLPFC | EWSR1 | exon_skip_182515 | 4.315598e-01 | 4.384828e-16 |
| DLPFC | KHDRBS2 | exon_skip_79179 | 6.319829e-01 | 9.807834e-32 |
| DLPFC | SF1 | exon_skip_79179 | 4.083436e-01 | 2.356354e-12 |
| DLPFC | RALYL | exon_skip_79179 | 4.476904e-01 | 8.214771e-15 |
| DLPFC | NOVA1 | exon_skip_79179 | 4.106872e-01 | 1.716496e-12 |
| TC | HNRNPH2 | exon_skip_182515 | 4.045674e-01 | 1.121130e-07 |
| TC | ESRP1 | exon_skip_182515 | 5.146021e-01 | 3.377009e-12 |
| TC | HNRNPF | exon_skip_182515 | -4.793501e-01 | 1.429963e-10 |
| TC | KHDRBS2 | exon_skip_79179 | 6.507971e-01 | 2.126917e-20 |
| TC | RALYL | exon_skip_79179 | 7.264353e-01 | 3.384304e-27 |
| TC | CELF1 | exon_skip_79179 | 4.756195e-01 | 2.697158e-10 |
| TC | YBX2 | exon_skip_79179 | 5.161353e-01 | 3.896546e-12 |
| TC | NOVA1 | exon_skip_79179 | 5.087265e-01 | 8.820422e-12 |
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RelatedDrugs for ANKS6 |
| 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 ANKS6 |
| 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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