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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ANKRD13C |
 Gene summary |
| Gene information | Gene symbol | ANKRD13C | Gene ID | 81573 |
| Gene name | ankyrin repeat domain 13C | |
| Synonyms | dJ677H15.3 | |
| Cytomap | 1p31.1 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat domain-containing protein 13C | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N6S4 | |
| Context | PubMed: ANKRD13C [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ANKRD13C | GO:0010869 | regulation of receptor biosynthetic process | 20959461 |
| ANKRD13C | GO:2000209 | regulation of anoikis | 20959461 |
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Exon skipping events across known transcript of Ensembl for ANKRD13C from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for ANKRD13C |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ANKRD13C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_27778 | 1 | 70727956:70728486:70736538:70736639:70740402:70740501 | 70736538:70736639 | ENSG00000118454.8 | ENST00000464236.1 |
| exon_skip_27781 | 1 | 70726919:70728530:70736538:70736639:70740402:70740501 | 70736538:70736639 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6 |
| exon_skip_27787 | 1 | 70736538:70736639:70740402:70740501:70742447:70742526 | 70740402:70740501 | ENSG00000118454.8 | ENST00000370944.4,ENST00000464236.1,ENST00000262346.6 |
| exon_skip_27791 | 1 | 70742447:70742527:70758070:70758232:70761812:70761944 | 70758070:70758232 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6 |
| exon_skip_27794 | 1 | 70758070:70758232:70761812:70761944:70766446:70766591 | 70761812:70761944 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6,ENST00000490846.1 |
| exon_skip_27798 | 1 | 70766446:70766591:70771906:70771973:70779427:70779473 | 70771906:70771973 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6,ENST00000490846.1 |
| exon_skip_27805 | 1 | 70771906:70771973:70779427:70779473:70781163:70781243 | 70779427:70779473 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6 |
| exon_skip_27808 | 1 | 70771906:70771973:70781163:70781249:70790535:70790640 | 70781163:70781249 | ENSG00000118454.8 | ENST00000498735.1 |
| exon_skip_27812 | 1 | 70781163:70781249:70790535:70790640:70801740:70801782 | 70790535:70790640 | ENSG00000118454.8 | ENST00000370944.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANKRD13C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_27778 | 1 | 70727956:70728486:70736538:70736639:70740402:70740501 | 70736538:70736639 | ENSG00000118454.8 | ENST00000464236.1 |
| exon_skip_27781 | 1 | 70726919:70728530:70736538:70736639:70740402:70740501 | 70736538:70736639 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6 |
| exon_skip_27787 | 1 | 70736538:70736639:70740402:70740501:70742447:70742526 | 70740402:70740501 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6,ENST00000464236.1 |
| exon_skip_27791 | 1 | 70742447:70742527:70758070:70758232:70761812:70761944 | 70758070:70758232 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6 |
| exon_skip_27794 | 1 | 70758070:70758232:70761812:70761944:70766446:70766591 | 70761812:70761944 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6,ENST00000490846.1 |
| exon_skip_27798 | 1 | 70766446:70766591:70771906:70771973:70779427:70779473 | 70771906:70771973 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6,ENST00000490846.1 |
| exon_skip_27805 | 1 | 70771906:70771973:70779427:70779473:70781163:70781243 | 70779427:70779473 | ENSG00000118454.8 | ENST00000370944.4,ENST00000262346.6 |
| exon_skip_27808 | 1 | 70771906:70771973:70781163:70781249:70790535:70790640 | 70781163:70781249 | ENSG00000118454.8 | ENST00000498735.1 |
| exon_skip_27810 | 1 | 70779427:70779473:70781163:70781249:70790535:70790640 | 70781163:70781249 | ENSG00000118454.8 | ENST00000370944.4 |
| exon_skip_27812 | 1 | 70781163:70781249:70790535:70790640:70801740:70801782 | 70790535:70790640 | ENSG00000118454.8 | ENST00000370944.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ANKRD13C |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370944 | 70736538 | 70736639 | Frame-shift |
| ENST00000370944 | 70771906 | 70771973 | Frame-shift |
| ENST00000370944 | 70779427 | 70779473 | Frame-shift |
| ENST00000370944 | 70740402 | 70740501 | In-frame |
| ENST00000370944 | 70758070 | 70758232 | In-frame |
| ENST00000370944 | 70761812 | 70761944 | In-frame |
| ENST00000370944 | 70790535 | 70790640 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000370944 | 70736538 | 70736639 | Frame-shift |
| ENST00000370944 | 70771906 | 70771973 | Frame-shift |
| ENST00000370944 | 70779427 | 70779473 | Frame-shift |
| ENST00000370944 | 70781163 | 70781249 | Frame-shift |
| ENST00000370944 | 70740402 | 70740501 | In-frame |
| ENST00000370944 | 70758070 | 70758232 | In-frame |
| ENST00000370944 | 70761812 | 70761944 | In-frame |
| ENST00000370944 | 70790535 | 70790640 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANKRD13C |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000370944 | 4086 | 541 | 70790535 | 70790640 | 787 | 891 | 157 | 192 |
| ENST00000370944 | 4086 | 541 | 70761812 | 70761944 | 1236 | 1367 | 307 | 351 |
| ENST00000370944 | 4086 | 541 | 70758070 | 70758232 | 1368 | 1529 | 351 | 405 |
| ENST00000370944 | 4086 | 541 | 70740402 | 70740501 | 1610 | 1708 | 432 | 464 |
| Loci of skipped exons in GTEx 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 |
| ENST00000370944 | 4086 | 541 | 70790535 | 70790640 | 787 | 891 | 157 | 192 |
| ENST00000370944 | 4086 | 541 | 70761812 | 70761944 | 1236 | 1367 | 307 | 351 |
| ENST00000370944 | 4086 | 541 | 70758070 | 70758232 | 1368 | 1529 | 351 | 405 |
| ENST00000370944 | 4086 | 541 | 70740402 | 70740501 | 1610 | 1708 | 432 | 464 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q8N6S4 | 157 | 192 | 148 | 541 | Alternative sequence | ID=VSP_019407;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N6S4 | 157 | 192 | 158 | 193 | Alternative sequence | ID=VSP_019408;Note=In isoform 2. ECAHLLLAHNAPVKVKNAQGWSPLAEAISYGDRQMI->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| Q8N6S4 | 157 | 192 | 1 | 541 | Chain | ID=PRO_0000240645;Note=Ankyrin repeat domain-containing protein 13C |
| Q8N6S4 | 157 | 192 | 143 | 172 | Repeat | Note=ANK 2 |
| Q8N6S4 | 157 | 192 | 176 | 205 | Repeat | Note=ANK 3 |
| Q8N6S4 | 307 | 351 | 148 | 541 | Alternative sequence | ID=VSP_019407;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N6S4 | 307 | 351 | 1 | 541 | Chain | ID=PRO_0000240645;Note=Ankyrin repeat domain-containing protein 13C |
| Q8N6S4 | 351 | 405 | 148 | 541 | Alternative sequence | ID=VSP_019407;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N6S4 | 351 | 405 | 1 | 541 | Chain | ID=PRO_0000240645;Note=Ankyrin repeat domain-containing protein 13C |
| Q8N6S4 | 351 | 405 | 369 | 369 | Sequence conflict | Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N6S4 | 432 | 464 | 148 | 541 | Alternative sequence | ID=VSP_019407;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N6S4 | 432 | 464 | 1 | 541 | Chain | ID=PRO_0000240645;Note=Ankyrin repeat domain-containing protein 13C |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q8N6S4 | 157 | 192 | 148 | 541 | Alternative sequence | ID=VSP_019407;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N6S4 | 157 | 192 | 158 | 193 | Alternative sequence | ID=VSP_019408;Note=In isoform 2. ECAHLLLAHNAPVKVKNAQGWSPLAEAISYGDRQMI->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| Q8N6S4 | 157 | 192 | 1 | 541 | Chain | ID=PRO_0000240645;Note=Ankyrin repeat domain-containing protein 13C |
| Q8N6S4 | 157 | 192 | 143 | 172 | Repeat | Note=ANK 2 |
| Q8N6S4 | 157 | 192 | 176 | 205 | Repeat | Note=ANK 3 |
| Q8N6S4 | 307 | 351 | 148 | 541 | Alternative sequence | ID=VSP_019407;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N6S4 | 307 | 351 | 1 | 541 | Chain | ID=PRO_0000240645;Note=Ankyrin repeat domain-containing protein 13C |
| Q8N6S4 | 351 | 405 | 148 | 541 | Alternative sequence | ID=VSP_019407;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N6S4 | 351 | 405 | 1 | 541 | Chain | ID=PRO_0000240645;Note=Ankyrin repeat domain-containing protein 13C |
| Q8N6S4 | 351 | 405 | 369 | 369 | Sequence conflict | Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N6S4 | 432 | 464 | 148 | 541 | Alternative sequence | ID=VSP_019407;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N6S4 | 432 | 464 | 1 | 541 | Chain | ID=PRO_0000240645;Note=Ankyrin repeat domain-containing protein 13C |
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SNVs in the skipped exons for ANKRD13C |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_27791 | 70758071 | 70758232 | 70758074 | 70758074 | Frame_Shift_Del | A | - | p.F404fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_27791 | 70758071 | 70758232 | 70758180 | 70758180 | Frame_Shift_Del | A | - | p.L369fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_27794 | 70761813 | 70761944 | 70761828 | 70761828 | Frame_Shift_Del | A | - | p.F346fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_27794 | 70761813 | 70761944 | 70761907 | 70761907 | Frame_Shift_Del | A | - | p.L320fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_27808 | 70781164 | 70781249 | 70781183 | 70781183 | Frame_Shift_Del | A | - | p.L216fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_27808 | 70781164 | 70781249 | 70781194 | 70781194 | Frame_Shift_Del | T | - | p.K211fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_27812 | 70790536 | 70790640 | 70790583 | 70790583 | Frame_Shift_Del | C | - | p.G177fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_27808 | 70781164 | 70781249 | 70781193 | 70781194 | Frame_Shift_Ins | - | T | p.T212fs |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_27794 | 70761813 | 70761944 | 70761923 | 70761923 | Nonsense_Mutation | C | A | p.E315* |
| BRCA | TCGA-A8-A08R-01 | exon_skip_27808 | 70781164 | 70781249 | 70781223 | 70781223 | Nonsense_Mutation | G | A | p.Q202* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| MM370_SKIN | 70736539 | 70736639 | 70736584 | 70736584 | Missense_Mutation | C | T | p.E484K |
| NCIH2228_LUNG | 70740403 | 70740501 | 70740499 | 70740499 | Missense_Mutation | G | A | p.A433V |
| SW1573_LUNG | 70758071 | 70758232 | 70758171 | 70758171 | Missense_Mutation | C | A | p.R372M |
| NCIH1436_LUNG | 70761813 | 70761944 | 70761850 | 70761850 | Missense_Mutation | C | A | p.R339L |
| NCIH630_LARGE_INTESTINE | 70761813 | 70761944 | 70761850 | 70761850 | Missense_Mutation | C | T | p.R339H |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70761813 | 70761944 | 70761896 | 70761896 | Missense_Mutation | C | T | p.D324N |
| SNU81_LARGE_INTESTINE | 70771907 | 70771973 | 70771958 | 70771958 | Missense_Mutation | C | T | p.R242Q |
| DU145_PROSTATE | 70781164 | 70781249 | 70781193 | 70781193 | Nonsense_Mutation | G | A | p.R212* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD13C |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD13C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD13C |
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RelatedDrugs for ANKRD13C |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ANKRD13C |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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