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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 ANKRD24 |
 Gene summary |
| Gene information | Gene symbol | ANKRD24 | Gene ID | 170961 |
| Gene name | ankyrin repeat domain 24 | |
| Synonyms | - | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat domain-containing protein 24 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8TF21 | |
| Context | PubMed: ANKRD24 [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 |
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Exon skipping events across known transcript of Ensembl for ANKRD24 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 ANKRD24 |
| 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 ANKRD24 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301071 | 19 | 4186417:4186458:4199679:4199766:4199871:4199992 | 4199679:4199766 | ENSG00000089847.8 | ENST00000600132.1,ENST00000318934.4 |
| exon_skip_301075 | 19 | 4202022:4202087:4202865:4202923:4207238:4207309 | 4202865:4202923 | ENSG00000089847.8 | ENST00000600132.1,ENST00000318934.4,ENST00000597689.1,ENST00000262970.5 |
| exon_skip_301080 | 19 | 4212596:4212695:4215974:4216047:4216280:4216399 | 4215974:4216047 | ENSG00000089847.8 | ENST00000600132.1,ENST00000318934.4,ENST00000595096.1,ENST00000597689.1,ENST00000262970.5 |
| exon_skip_301082 | 19 | 4216546:4218160:4219587:4219755:4222666:4222792 | 4219587:4219755 | ENSG00000089847.8 | ENST00000600132.1,ENST00000318934.4,ENST00000262970.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANKRD24 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301071 | 19 | 4186417:4186458:4199679:4199766:4199871:4199992 | 4199679:4199766 | ENSG00000089847.8 | ENST00000600132.1,ENST00000318934.4 |
| exon_skip_301075 | 19 | 4202022:4202087:4202865:4202923:4207238:4207309 | 4202865:4202923 | ENSG00000089847.8 | ENST00000600132.1,ENST00000318934.4,ENST00000597689.1,ENST00000262970.5 |
| exon_skip_301076 | 19 | 4202022:4202087:4207104:4207131:4207238:4207309 | 4207104:4207131 | ENSG00000089847.8 | ENST00000595928.1 |
| exon_skip_301080 | 19 | 4212596:4212695:4215974:4216047:4216280:4216399 | 4215974:4216047 | ENSG00000089847.8 | ENST00000600132.1,ENST00000318934.4,ENST00000597689.1,ENST00000262970.5,ENST00000595096.1 |
| exon_skip_301082 | 19 | 4216546:4218160:4219587:4219755:4222666:4222792 | 4219587:4219755 | ENSG00000089847.8 | ENST00000600132.1,ENST00000318934.4,ENST00000262970.5 |
| 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 ANKRD24 |
| 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 |
| ENST00000318934 | 4202865 | 4202923 | Frame-shift |
| ENST00000600132 | 4202865 | 4202923 | Frame-shift |
| ENST00000318934 | 4215974 | 4216047 | Frame-shift |
| ENST00000600132 | 4215974 | 4216047 | Frame-shift |
| ENST00000318934 | 4199679 | 4199766 | In-frame |
| ENST00000600132 | 4199679 | 4199766 | In-frame |
| ENST00000318934 | 4219587 | 4219755 | In-frame |
| ENST00000600132 | 4219587 | 4219755 | 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 |
| ENST00000318934 | 4202865 | 4202923 | Frame-shift |
| ENST00000600132 | 4202865 | 4202923 | Frame-shift |
| ENST00000318934 | 4215974 | 4216047 | Frame-shift |
| ENST00000600132 | 4215974 | 4216047 | Frame-shift |
| ENST00000318934 | 4199679 | 4199766 | In-frame |
| ENST00000600132 | 4199679 | 4199766 | In-frame |
| ENST00000318934 | 4219587 | 4219755 | In-frame |
| ENST00000600132 | 4219587 | 4219755 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANKRD24 |
| 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 |
| ENST00000318934 | 3923 | 1146 | 4199679 | 4199766 | 193 | 279 | 12 | 41 |
| ENST00000600132 | 4043 | 1146 | 4199679 | 4199766 | 313 | 399 | 12 | 41 |
| ENST00000318934 | 3923 | 1146 | 4219587 | 4219755 | 3160 | 3327 | 1001 | 1057 |
| ENST00000600132 | 4043 | 1146 | 4219587 | 4219755 | 3280 | 3447 | 1001 | 1057 |
| 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 |
| ENST00000318934 | 3923 | 1146 | 4199679 | 4199766 | 193 | 279 | 12 | 41 |
| ENST00000600132 | 4043 | 1146 | 4199679 | 4199766 | 313 | 399 | 12 | 41 |
| ENST00000318934 | 3923 | 1146 | 4219587 | 4219755 | 3160 | 3327 | 1001 | 1057 |
| ENST00000600132 | 4043 | 1146 | 4219587 | 4219755 | 3280 | 3447 | 1001 | 1057 |
| 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 |
| Q8TF21 | 12 | 41 | 1 | 41 | Alternative sequence | ID=VSP_032811;Note=In isoform 2. MKTLRARFKKTELRLSPTDLGSCPPCGPCPIPKPAARGRRQ->MQPAACAGEGAGPPAPRPPHPPGDKVRRGRGGAPSLSPQPPAPYLGLPIPSRGGGGWRGGQGGGGGTREGGTGRAGGAGSSGSAQPRPPAAPRGPSRPSGRRLLLEPRAPPAPRAPDAMKQLCLCAAASFA;Ontology_term=ECO:0000303;evidence=ECO:0000303| |
| Q8TF21 | 12 | 41 | 1 | 41 | Alternative sequence | ID=VSP_032811;Note=In isoform 2. MKTLRARFKKTELRLSPTDLGSCPPCGPCPIPKPAARGRRQ->MQPAACAGEGAGPPAPRPPHPPGDKVRRGRGGAPSLSPQPPAPYLGLPIPSRGGGGWRGGQGGGGGTREGGTGRAGGAGSSGSAQPRPPAAPRGPSRPSGRRLLLEPRAPPAPRAPDAMKQLCLCAAASFA;Ontology_term=ECO:0000303;evidence=ECO:0000303| |
| Q8TF21 | 12 | 41 | 1 | 1146 | Chain | ID=PRO_0000328836;Note=Ankyrin repeat domain-containing protein 24 |
| Q8TF21 | 12 | 41 | 1 | 1146 | Chain | ID=PRO_0000328836;Note=Ankyrin repeat domain-containing protein 24 |
| Q8TF21 | 1001 | 1057 | 1 | 1146 | Chain | ID=PRO_0000328836;Note=Ankyrin repeat domain-containing protein 24 |
| Q8TF21 | 1001 | 1057 | 1 | 1146 | Chain | ID=PRO_0000328836;Note=Ankyrin repeat domain-containing protein 24 |
| Q8TF21 | 1001 | 1057 | 714 | 1110 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF21 | 1001 | 1057 | 714 | 1110 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q8TF21 | 12 | 41 | 1 | 41 | Alternative sequence | ID=VSP_032811;Note=In isoform 2. MKTLRARFKKTELRLSPTDLGSCPPCGPCPIPKPAARGRRQ->MQPAACAGEGAGPPAPRPPHPPGDKVRRGRGGAPSLSPQPPAPYLGLPIPSRGGGGWRGGQGGGGGTREGGTGRAGGAGSSGSAQPRPPAAPRGPSRPSGRRLLLEPRAPPAPRAPDAMKQLCLCAAASFA;Ontology_term=ECO:0000303;evidence=ECO:0000303| |
| Q8TF21 | 12 | 41 | 1 | 41 | Alternative sequence | ID=VSP_032811;Note=In isoform 2. MKTLRARFKKTELRLSPTDLGSCPPCGPCPIPKPAARGRRQ->MQPAACAGEGAGPPAPRPPHPPGDKVRRGRGGAPSLSPQPPAPYLGLPIPSRGGGGWRGGQGGGGGTREGGTGRAGGAGSSGSAQPRPPAAPRGPSRPSGRRLLLEPRAPPAPRAPDAMKQLCLCAAASFA;Ontology_term=ECO:0000303;evidence=ECO:0000303| |
| Q8TF21 | 12 | 41 | 1 | 1146 | Chain | ID=PRO_0000328836;Note=Ankyrin repeat domain-containing protein 24 |
| Q8TF21 | 12 | 41 | 1 | 1146 | Chain | ID=PRO_0000328836;Note=Ankyrin repeat domain-containing protein 24 |
| Q8TF21 | 1001 | 1057 | 1 | 1146 | Chain | ID=PRO_0000328836;Note=Ankyrin repeat domain-containing protein 24 |
| Q8TF21 | 1001 | 1057 | 1 | 1146 | Chain | ID=PRO_0000328836;Note=Ankyrin repeat domain-containing protein 24 |
| Q8TF21 | 1001 | 1057 | 714 | 1110 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TF21 | 1001 | 1057 | 714 | 1110 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ANKRD24 |
| - 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 |
| THCA | TCGA-EM-A3AQ-01 | exon_skip_301082 | 4219588 | 4219755 | 4219657 | 4219657 | Nonsense_Mutation | C | T | p.Q1025* |
| THCA | TCGA-EM-A3AQ-01 | exon_skip_301082 | 4219588 | 4219755 | 4219657 | 4219657 | Nonsense_Mutation | C | T | p.Q1025X |
| - 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 |
| SKUT1_SOFT_TISSUE | 4219588 | 4219755 | 4219734 | 4219734 | Frame_Shift_Del | G | - | p.K1050fs |
| TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4199680 | 4199766 | 4199684 | 4199684 | Missense_Mutation | G | A | p.R14Q |
| NCIH1155_LUNG | 4215975 | 4216047 | 4215978 | 4215978 | Missense_Mutation | G | A | p.E401K |
| CHP126_AUTONOMIC_GANGLIA | 4219588 | 4219755 | 4219594 | 4219594 | Missense_Mutation | C | T | p.R1004C |
| CAOV3_OVARY | 4219588 | 4219755 | 4219649 | 4219649 | Missense_Mutation | C | T | p.T1022I |
| KYSE150_OESOPHAGUS | 4219588 | 4219755 | 4219682 | 4219682 | Missense_Mutation | A | C | p.E1033A |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4219588 | 4219755 | 4219697 | 4219697 | Missense_Mutation | G | A | p.R1038H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD24 |
| 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 ANKRD24 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD24 |
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RelatedDrugs for ANKRD24 |
| 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 ANKRD24 |
| 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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