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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 EFCAB13 |
 Gene summary |
| Gene information | Gene symbol | EFCAB13 | Gene ID | 124989 |
| Gene name | EF-hand calcium binding domain 13 | |
| Synonyms | C17orf57 | |
| Cytomap | 17q21.32 | |
| Type of gene | protein-coding | |
| Description | EF-hand calcium-binding domain-containing protein 13EF-hand domain-containing protein C17orf57 | |
| 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 EFCAB13 |
| 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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ENSG00000178852
| 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 EFCAB13 |
| 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_107098 | chr17 | 47361378:47361521:47370437:47370508:47374472:47374638 | 47370437:47370508 |
| exon_skip_161164 | chr17 | 47345016:47345098:47361378:47361521:47370437:47370508 | 47361378:47361521 |
| exon_skip_258608 | chr17 | 47409647:47409691:47412773:47412916:47414848:47414919 | 47412773:47412916 |
| exon_skip_27035 | chr17 | 47347808:47347951:47361378:47361521:47370437:47370508 | 47361378:47361521 |
| exon_skip_28985 | chr17 | 47377816:47377903:47379182:47379253:47391437:47391580 | 47379182:47379253 |
| exon_skip_36857 | chr17 | 47345016:47345098:47347808:47347951:47361378:47361464 | 47347808:47347951 |
| exon_skip_68588 | chr17 | 47345016:47345098:47370437:47370508:47374472:47374638 | 47370437:47370508 |
| exon_skip_8716 | chr17 | 47345016:47345098:47347808:47347951:47361378:47361521 | 47347808:47347951 |
| exon_skip_90227 | chr17 | 47328269:47328383:47328793:47329038:47335196:47335356 | 47328793:47329038 |
| 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 EFCAB13 |
| 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 |
| ENST00000331493 | 47347808 | 47347951 | In-frame |
| ENST00000331493 | 47370437 | 47370508 | In-frame |
| ENST00000331493 | 47379182 | 47379253 | In-frame |
| ENST00000331493 | 47412773 | 47412916 | 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 |
| ENST00000331493 | 47347808 | 47347951 | In-frame |
| ENST00000331493 | 47361378 | 47361521 | In-frame |
| ENST00000331493 | 47379182 | 47379253 | In-frame |
| ENST00000331493 | 47412773 | 47412916 | 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 |
| ENST00000331493 | 47347808 | 47347951 | In-frame |
| ENST00000331493 | 47361378 | 47361521 | In-frame |
| ENST00000331493 | 47370437 | 47370508 | In-frame |
| ENST00000331493 | 47379182 | 47379253 | In-frame |
| ENST00000331493 | 47412773 | 47412916 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EFCAB13 |
p-ENSG00000178852_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 |
| ENST00000331493 | 3948 | 973 | 47347808 | 47347951 | 930 | 1072 | 173 | 220 |
| ENST00000331493 | 3948 | 973 | 47370437 | 47370508 | 1218 | 1288 | 269 | 292 |
| ENST00000331493 | 3948 | 973 | 47379182 | 47379253 | 1923 | 1993 | 504 | 527 |
| ENST00000331493 | 3948 | 973 | 47412773 | 47412916 | 2691 | 2833 | 760 | 807 |
| 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 |
| ENST00000331493 | 3948 | 973 | 47347808 | 47347951 | 930 | 1072 | 173 | 220 |
| ENST00000331493 | 3948 | 973 | 47361378 | 47361521 | 1074 | 1216 | 221 | 268 |
| ENST00000331493 | 3948 | 973 | 47379182 | 47379253 | 1923 | 1993 | 504 | 527 |
| ENST00000331493 | 3948 | 973 | 47412773 | 47412916 | 2691 | 2833 | 760 | 807 |
| 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 |
| ENST00000331493 | 3948 | 973 | 47347808 | 47347951 | 930 | 1072 | 173 | 220 |
| ENST00000331493 | 3948 | 973 | 47361378 | 47361521 | 1074 | 1216 | 221 | 268 |
| ENST00000331493 | 3948 | 973 | 47370437 | 47370508 | 1218 | 1288 | 269 | 292 |
| ENST00000331493 | 3948 | 973 | 47379182 | 47379253 | 1923 | 1993 | 504 | 527 |
| ENST00000331493 | 3948 | 973 | 47412773 | 47412916 | 2691 | 2833 | 760 | 807 |
| 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 |
| Q8IY85 | 173 | 220 | 173 | 269 | Alternative sequence | ID=VSP_047187;Note=In isoform 2. ALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IY85 | 173 | 220 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 269 | 292 | 173 | 269 | Alternative sequence | ID=VSP_047187;Note=In isoform 2. ALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IY85 | 269 | 292 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 269 | 292 | 279 | 279 | Natural variant | ID=VAR_061091;Note=I->V;Dbxref=dbSNP:rs55853213 |
| Q8IY85 | 269 | 292 | 286 | 286 | Natural variant | ID=VAR_035465;Note=In a breast cancer sample%3B somatic mutation. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q8IY85 | 504 | 527 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 504 | 527 | 488 | 523 | Domain | Note=EF-hand 1 |
| Q8IY85 | 504 | 527 | 524 | 559 | Domain | Note=EF-hand 2 |
| Q8IY85 | 760 | 807 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 760 | 807 | 756 | 791 | Domain | Note=EF-hand 4 |
| Q8IY85 | 760 | 807 | 792 | 827 | Domain | Note=EF-hand 5 |
| 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 |
| Q8IY85 | 173 | 220 | 173 | 269 | Alternative sequence | ID=VSP_047187;Note=In isoform 2. ALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IY85 | 173 | 220 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 221 | 268 | 173 | 269 | Alternative sequence | ID=VSP_047187;Note=In isoform 2. ALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IY85 | 221 | 268 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 504 | 527 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 504 | 527 | 488 | 523 | Domain | Note=EF-hand 1 |
| Q8IY85 | 504 | 527 | 524 | 559 | Domain | Note=EF-hand 2 |
| Q8IY85 | 760 | 807 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 760 | 807 | 756 | 791 | Domain | Note=EF-hand 4 |
| Q8IY85 | 760 | 807 | 792 | 827 | Domain | Note=EF-hand 5 |
| 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 |
| Q8IY85 | 173 | 220 | 173 | 269 | Alternative sequence | ID=VSP_047187;Note=In isoform 2. ALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IY85 | 173 | 220 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 221 | 268 | 173 | 269 | Alternative sequence | ID=VSP_047187;Note=In isoform 2. ALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IY85 | 221 | 268 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 269 | 292 | 173 | 269 | Alternative sequence | ID=VSP_047187;Note=In isoform 2. ALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDALKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IY85 | 269 | 292 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 269 | 292 | 279 | 279 | Natural variant | ID=VAR_061091;Note=I->V;Dbxref=dbSNP:rs55853213 |
| Q8IY85 | 269 | 292 | 286 | 286 | Natural variant | ID=VAR_035465;Note=In a breast cancer sample%3B somatic mutation. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| Q8IY85 | 504 | 527 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 504 | 527 | 488 | 523 | Domain | Note=EF-hand 1 |
| Q8IY85 | 504 | 527 | 524 | 559 | Domain | Note=EF-hand 2 |
| Q8IY85 | 760 | 807 | 1 | 973 | Chain | ID=PRO_0000281110;Note=EF-hand calcium-binding domain-containing protein 13 |
| Q8IY85 | 760 | 807 | 756 | 791 | Domain | Note=EF-hand 4 |
| Q8IY85 | 760 | 807 | 792 | 827 | Domain | Note=EF-hand 5 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EFCAB13 |
| 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 EFCAB13 |
| - 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 EFCAB13 |
| 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 EFCAB13 |
| 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 EFCAB13 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for EFCAB13 |
| 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 EFCAB13 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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