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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 ANKHD1 |
 Gene summary |
| Gene information | Gene symbol | ANKHD1 | Gene ID | 54882 |
| Gene name | ankyrin repeat and KH domain containing 1 | |
| Synonyms | MASK|MASK1|PP2500|VBARP | |
| Cytomap | 5q31.3 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat and KH domain-containing protein 1HIV-1 Vpr-binding ankyrin repeat proteinmultiple ankyrin repeats, single KH-domain homolog | |
| 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 ANKHD1 |
| 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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ENSG00000131503
| 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 |
| STG | UP | ENST00000431508.5 | ANKHD1-209:protein_coding:ANKHD1 | 2.000313e+01 | 2.364195e+01 | 4.280384e-40 | 2.924394e-36 |
| CB | UP | ENST00000532219.5 | ANKHD1-EIF4EBP3-203:protein_coding:ANKHD1 | 1.840295e+02 | 1.444590e+00 | 1.569548e-07 | 3.109538e-06 |
| CB | DOWN | ENST00000435794.5 | ANKHD1-212:protein_coding:ANKHD1 | 2.356095e+02 | -1.222423e+00 | 3.836500e-04 | 2.303720e-03 |
| TC | DOWN | ENST00000435794.5 | ANKHD1-212:protein_coding:ANKHD1 | 8.035041e+01 | -1.107814e+00 | 5.654075e-03 | 3.671766e-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 ANKHD1 |
| 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_133473 | chr5 | 140528184:140529796:140535362:140535538:140537389:140537589 | 140535362:140535538 |
| exon_skip_17058 | chr5 | 140464667:140464776:140472239:140472295:140482580:140482667 | 140472239:140472295 |
| exon_skip_227857 | chr5 | 140486958:140487060:140496520:140497278:140504821:140504966 | 140496520:140497278 |
| 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 ANKHD1 |
| 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 |
| ENST00000360839 | 140496520 | 140497278 | In-frame |
| ENST00000360839 | 140535362 | 140535538 | 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 |
| ENST00000360839 | 140496520 | 140497278 | In-frame |
| ENST00000360839 | 140535362 | 140535538 | 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 |
| ENST00000360839 | 140496520 | 140497278 | In-frame |
| ENST00000360839 | 140535362 | 140535538 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANKHD1 |
p-ENSG00000131503_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 |
| ENST00000360839 | 8238 | 2542 | 140496520 | 140497278 | 2401 | 3158 | 749 | 1001 |
| ENST00000360839 | 8238 | 2542 | 140535362 | 140535538 | 7006 | 7181 | 2284 | 2342 |
| 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 |
| ENST00000360839 | 8238 | 2542 | 140496520 | 140497278 | 2401 | 3158 | 749 | 1001 |
| ENST00000360839 | 8238 | 2542 | 140535362 | 140535538 | 7006 | 7181 | 2284 | 2342 |
| 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 |
| ENST00000360839 | 8238 | 2542 | 140496520 | 140497278 | 2401 | 3158 | 749 | 1001 |
| ENST00000360839 | 8238 | 2542 | 140535362 | 140535538 | 7006 | 7181 | 2284 | 2342 |
| 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 |
| Q8IWZ3 | 749 | 1001 | 582 | 2542 | Alternative sequence | ID=VSP_028454;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWZ3 | 749 | 1001 | 628 | 2542 | Alternative sequence | ID=VSP_028456;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15489334,PMID:15498874 |
| Q8IWZ3 | 749 | 1001 | 1 | 2542 | Chain | ID=PRO_0000306326;Note=Ankyrin repeat and KH domain-containing protein 1 |
| Q8IWZ3 | 749 | 1001 | 775 | 852 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWZ3 | 749 | 1001 | 803 | 803 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8IWZ3 | 2284 | 2342 | 582 | 2542 | Alternative sequence | ID=VSP_028454;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWZ3 | 2284 | 2342 | 628 | 2542 | Alternative sequence | ID=VSP_028456;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15489334,PMID:15498874 |
| Q8IWZ3 | 2284 | 2342 | 2342 | 2343 | Alternative sequence | ID=VSP_028457;Note=In isoform 4. SS->SCDSPIPSVSSGSSSPLSA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10470851;Dbxref=PMID:10470851 |
| Q8IWZ3 | 2284 | 2342 | 1 | 2542 | Chain | ID=PRO_0000306326;Note=Ankyrin repeat and KH domain-containing protein 1 |
| Q8IWZ3 | 2284 | 2342 | 2291 | 2299 | Compositional bias | Note=Poly-Ser |
| 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 |
| Q8IWZ3 | 749 | 1001 | 582 | 2542 | Alternative sequence | ID=VSP_028454;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWZ3 | 749 | 1001 | 628 | 2542 | Alternative sequence | ID=VSP_028456;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15489334,PMID:15498874 |
| Q8IWZ3 | 749 | 1001 | 1 | 2542 | Chain | ID=PRO_0000306326;Note=Ankyrin repeat and KH domain-containing protein 1 |
| Q8IWZ3 | 749 | 1001 | 775 | 852 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWZ3 | 749 | 1001 | 803 | 803 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8IWZ3 | 2284 | 2342 | 582 | 2542 | Alternative sequence | ID=VSP_028454;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWZ3 | 2284 | 2342 | 628 | 2542 | Alternative sequence | ID=VSP_028456;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15489334,PMID:15498874 |
| Q8IWZ3 | 2284 | 2342 | 2342 | 2343 | Alternative sequence | ID=VSP_028457;Note=In isoform 4. SS->SCDSPIPSVSSGSSSPLSA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10470851;Dbxref=PMID:10470851 |
| Q8IWZ3 | 2284 | 2342 | 1 | 2542 | Chain | ID=PRO_0000306326;Note=Ankyrin repeat and KH domain-containing protein 1 |
| Q8IWZ3 | 2284 | 2342 | 2291 | 2299 | Compositional bias | Note=Poly-Ser |
| 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 |
| Q8IWZ3 | 749 | 1001 | 582 | 2542 | Alternative sequence | ID=VSP_028454;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWZ3 | 749 | 1001 | 628 | 2542 | Alternative sequence | ID=VSP_028456;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15489334,PMID:15498874 |
| Q8IWZ3 | 749 | 1001 | 1 | 2542 | Chain | ID=PRO_0000306326;Note=Ankyrin repeat and KH domain-containing protein 1 |
| Q8IWZ3 | 749 | 1001 | 775 | 852 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IWZ3 | 749 | 1001 | 803 | 803 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8IWZ3 | 2284 | 2342 | 582 | 2542 | Alternative sequence | ID=VSP_028454;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWZ3 | 2284 | 2342 | 628 | 2542 | Alternative sequence | ID=VSP_028456;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15489334,PMID:15498874 |
| Q8IWZ3 | 2284 | 2342 | 2342 | 2343 | Alternative sequence | ID=VSP_028457;Note=In isoform 4. SS->SCDSPIPSVSSGSSSPLSA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10470851;Dbxref=PMID:10470851 |
| Q8IWZ3 | 2284 | 2342 | 1 | 2542 | Chain | ID=PRO_0000306326;Note=Ankyrin repeat and KH domain-containing protein 1 |
| Q8IWZ3 | 2284 | 2342 | 2291 | 2299 | Compositional bias | Note=Poly-Ser |
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3'-UTR located exon skipping events that lost miRNA binding sites in ANKHD1 |
| 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 ANKHD1 |
| - 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 ANKHD1 |
| 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 |
| CDR | MSBB | IFG | exon_skip_227857 | 3.846826e-01 | 4.325069e-02 | chr5 | + | 140486958 | 140487060 | 140496520 | 140497278 | 140504821 | 140504966 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKHD1 |
| 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 ANKHD1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| FL | TRNAU1AP | exon_skip_17058 | -4.522703e-01 | 6.440303e-11 |
| FL | SRSF9 | exon_skip_17058 | -4.818355e-01 | 2.227250e-12 |
| IFG | RBM3 | exon_skip_227857 | -5.409936e-01 | 2.952804e-03 |
| PG | SRSF9 | exon_skip_17058 | -4.303942e-01 | 7.138777e-09 |
| STG | SRSF2 | exon_skip_227857 | -4.813166e-01 | 3.114742e-06 |
| STG | ELAVL4 | exon_skip_227857 | -4.722351e-01 | 5.046254e-06 |
| STG | ELAVL1 | exon_skip_227857 | -4.354421e-01 | 3.114036e-05 |
| STG | SRSF11 | exon_skip_227857 | -4.039837e-01 | 1.259855e-04 |
| STG | RBM3 | exon_skip_227857 | -4.440741e-01 | 2.070173e-05 |
| STG | MBNL1 | exon_skip_227857 | -4.160646e-01 | 7.486799e-05 |
| STG | MATR3 | exon_skip_227857 | -4.535078e-01 | 1.308127e-05 |
| STG | FXR2 | exon_skip_227857 | -4.460216e-01 | 1.885095e-05 |
| STG | PCBP1 | exon_skip_227857 | -5.375873e-01 | 1.125754e-07 |
| STG | ILF2 | exon_skip_227857 | -5.246166e-01 | 2.553761e-07 |
| STG | HNRNPK | exon_skip_227857 | -5.026109e-01 | 9.503411e-07 |
| STG | KHDRBS3 | exon_skip_227857 | -4.475040e-01 | 1.754710e-05 |
| STG | FUBP1 | exon_skip_227857 | -4.026392e-01 | 1.333357e-04 |
| STG | ENOX1 | exon_skip_227857 | -4.359172e-01 | 3.045709e-05 |
| STG | HNRNPA0 | exon_skip_227857 | -4.486335e-01 | 1.661079e-05 |
| STG | HNRNPDL | exon_skip_227857 | -4.792730e-01 | 3.476165e-06 |
| STG | RALYL | exon_skip_227857 | -4.413145e-01 | 2.361658e-05 |
| STG | EIF4G2 | exon_skip_227857 | -4.601076e-01 | 9.410866e-06 |
| STG | HNRNPL | exon_skip_227857 | -5.318987e-01 | 1.619173e-07 |
| STG | CELF1 | exon_skip_227857 | -4.141705e-01 | 8.134009e-05 |
| STG | SRSF1 | exon_skip_227857 | -4.061691e-01 | 1.148335e-04 |
| STG | SRSF9 | exon_skip_227857 | -4.072007e-01 | 1.098934e-04 |
| STG | EIF4B | exon_skip_227857 | -4.028768e-01 | 1.320086e-04 |
| STG | ZCRB1 | exon_skip_227857 | -4.409983e-01 | 2.397403e-05 |
| STG | SART3 | exon_skip_227857 | -4.264454e-01 | 4.710746e-05 |
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RelatedDrugs for ANKHD1 |
| 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 ANKHD1 |
| 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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