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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 ATCAY |
 Gene summary |
| Gene information | Gene symbol | ATCAY | Gene ID | 85300 |
| Gene name | ATCAY kinesin light chain interacting caytaxin | |
| Synonyms | BNIP-H|CLAC | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | caytaxinATCAY, caytaxinBNIP-2-homolgyBNIP-2-homologyCayman ataxiaataxia cayman type proteinataxia cerebellar Cayman type | |
| 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 |
| ATCAY | GO:0032880 | regulation of protein localization | 16899818 |
| ATCAY | GO:2000212 | negative regulation of glutamate metabolic process | 16899818 |
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Gene structures and expression levels for ATCAY |
| 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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ENSG00000167654
| 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 |
| PCC | DOWN | ENST00000597739.1 | ATCAY-203:nonsense_mediated_decay:ATCAY | 2.760879e+01 | -8.577349e-01 | 2.128525e-05 | 2.154556e-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 ATCAY |
| 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_124628 | chr19 | 3920766:3920798:3922159:3922222:3924583:3925904 | 3922159:3922222 |
| exon_skip_148311 | chr19 | 3908268:3908370:3909486:3909617:3910803:3910889 | 3909486:3909617 |
| exon_skip_196639 | chr19 | 3909486:3909617:3910803:3910889:3913758:3913856 | 3910803:3910889 |
| exon_skip_205567 | chr19 | 3885768:3885844:3895127:3895197:3902487:3902545 | 3895127:3895197 |
| exon_skip_255275 | chr19 | 3885768:3885844:3902487:3902545:3905434:3905595 | 3902487:3902545 |
| exon_skip_264365 | chr19 | 3913758:3913856:3917742:3917777:3918806:3918877 | 3917742:3917777 |
| exon_skip_26659 | chr19 | 3910803:3910889:3913758:3913856:3917742:3917777 | 3913758:3913856 |
| exon_skip_270828 | chr19 | 3917742:3917777:3918806:3918877:3920766:3920798 | 3918806:3918877 |
| exon_skip_32755 | chr19 | 3918806:3918877:3920766:3920798:3924583:3924997 | 3920766:3920798 |
| exon_skip_4727 | chr19 | 3920766:3920798:3922159:3922222:3924583:3924997 | 3922159:3922222 |
| exon_skip_81632 | chr19 | 3885727:3885844:3895127:3895197:3902487:3902545 | 3895127:3895197 |
| 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 ATCAY |
| 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 |
| ENST00000450849 | 3902487 | 3902545 | Frame-shift |
| ENST00000450849 | 3910803 | 3910889 | In-frame |
| ENST00000450849 | 3913758 | 3913856 | In-frame |
| ENST00000450849 | 3917742 | 3917777 | In-frame |
| ENST00000450849 | 3918806 | 3918877 | In-frame |
| ENST00000450849 | 3920766 | 3920798 | 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 |
| ENST00000450849 | 3910803 | 3910889 | In-frame |
| ENST00000450849 | 3920766 | 3920798 | 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 |
| ENST00000450849 | 3902487 | 3902545 | Frame-shift |
| ENST00000450849 | 3909486 | 3909617 | In-frame |
| ENST00000450849 | 3910803 | 3910889 | In-frame |
| ENST00000450849 | 3913758 | 3913856 | In-frame |
| ENST00000450849 | 3917742 | 3917777 | In-frame |
| ENST00000450849 | 3918806 | 3918877 | In-frame |
| ENST00000450849 | 3920766 | 3920798 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATCAY |
p-ENSG00000167654_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 |
| ENST00000450849 | 5087 | 371 | 3910803 | 3910889 | 1248 | 1333 | 260 | 288 |
| ENST00000450849 | 5087 | 371 | 3913758 | 3913856 | 1335 | 1432 | 289 | 321 |
| ENST00000450849 | 5087 | 371 | 3917742 | 3917777 | 1434 | 1468 | 322 | 333 |
| ENST00000450849 | 5087 | 371 | 3918806 | 3918877 | 1470 | 1540 | 334 | 357 |
| ENST00000450849 | 5087 | 371 | 3920766 | 3920798 | 1542 | 1573 | 358 | 368 |
| 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 |
| ENST00000450849 | 5087 | 371 | 3910803 | 3910889 | 1248 | 1333 | 260 | 288 |
| ENST00000450849 | 5087 | 371 | 3920766 | 3920798 | 1542 | 1573 | 358 | 368 |
| 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 |
| ENST00000450849 | 5087 | 371 | 3909486 | 3909617 | 1116 | 1246 | 216 | 259 |
| ENST00000450849 | 5087 | 371 | 3910803 | 3910889 | 1248 | 1333 | 260 | 288 |
| ENST00000450849 | 5087 | 371 | 3913758 | 3913856 | 1335 | 1432 | 289 | 321 |
| ENST00000450849 | 5087 | 371 | 3917742 | 3917777 | 1434 | 1468 | 322 | 333 |
| ENST00000450849 | 5087 | 371 | 3918806 | 3918877 | 1470 | 1540 | 334 | 357 |
| ENST00000450849 | 5087 | 371 | 3920766 | 3920798 | 1542 | 1573 | 358 | 368 |
| 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 |
| Q86WG3 | 260 | 288 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 260 | 288 | 171 | 328 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q86WG3 | 260 | 288 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 289 | 321 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 289 | 321 | 171 | 328 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q86WG3 | 289 | 321 | 301 | 301 | Natural variant | ID=VAR_017164;Note=In ATCAY. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14556008;Dbxref=PMID:14556008 |
| Q86WG3 | 289 | 321 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 322 | 333 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 322 | 333 | 171 | 328 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q86WG3 | 322 | 333 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 334 | 357 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 334 | 357 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 358 | 368 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 358 | 368 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| 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 |
| Q86WG3 | 260 | 288 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 260 | 288 | 171 | 328 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q86WG3 | 260 | 288 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 358 | 368 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 358 | 368 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| 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 |
| Q86WG3 | 216 | 259 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 216 | 259 | 171 | 328 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q86WG3 | 216 | 259 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 260 | 288 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 260 | 288 | 171 | 328 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q86WG3 | 260 | 288 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 289 | 321 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 289 | 321 | 171 | 328 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q86WG3 | 289 | 321 | 301 | 301 | Natural variant | ID=VAR_017164;Note=In ATCAY. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14556008;Dbxref=PMID:14556008 |
| Q86WG3 | 289 | 321 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 322 | 333 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 322 | 333 | 171 | 328 | Domain | Note=CRAL-TRIO;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00056 |
| Q86WG3 | 322 | 333 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 334 | 357 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 334 | 357 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
| Q86WG3 | 358 | 368 | 1 | 371 | Chain | ID=PRO_0000210767;Note=Caytaxin |
| Q86WG3 | 358 | 368 | 190 | 371 | Region | Note=Mediates interaction with GLS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16899818;Dbxref=PMID:16899818 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATCAY |
| 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 ATCAY |
| - 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 ATCAY |
| 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_40881 | 3.907672e-01 | 3.977899e-02 | chr19 | + | 3885768 | 3885844 | 3893564 | 3893738 | 3902487 | 3902545 |
| CDR | MSBB | IFG | exon_skip_196639 | -4.743404e-01 | 1.076525e-02 | chr19 | + | 3909486 | 3909617 | 3910803 | 3910889 | 3913758 | 3913856 |
| CDR | MSBB | IFG | exon_skip_40881 | 3.774783e-01 | 4.766793e-02 | chr19 | + | 3885768 | 3885844 | 3893564 | 3893738 | 3902487 | 3902545 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATCAY |
| 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 ATCAY |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ATCAY |
| 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 ATCAY |
| 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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