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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 KIAA0232 |
 Gene summary |
| Gene information | Gene symbol | KIAA0232 | Gene ID | 9778 |
| Gene name | KIAA0232 | |
| Synonyms | - | |
| Cytomap | 4p16.1 | |
| Type of gene | protein-coding | |
| Description | uncharacterized protein KIAA0232 | |
| Modification date | 20180519 | |
| UniProtAcc | Q92628 | |
| Context | PubMed: KIAA0232 [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 KIAA0232 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 KIAA0232 |
| 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 KIAA0232 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422460 | 4 | 6784466:6784568:6806249:6806333:6825911:6826020 | 6806249:6806333 | ENSG00000170871.7 | ENST00000307659.5 |
| exon_skip_422461 | 4 | 6784466:6784568:6825911:6826411:6843793:6843931 | 6825911:6826411 | ENSG00000170871.7 | ENST00000425103.1 |
| exon_skip_422465 | 4 | 6825911:6826411:6843793:6843931:6858890:6858957 | 6843793:6843931 | ENSG00000170871.7 | ENST00000307659.5,ENST00000425103.1 |
| exon_skip_422470 | 4 | 6858890:6858957:6860151:6860233:6862627:6862666 | 6860151:6860233 | ENSG00000170871.7 | ENST00000307659.5,ENST00000503069.1,ENST00000425103.1 |
| exon_skip_422476 | 4 | 6873300:6873409:6878386:6878484:6882513:6882640 | 6878386:6878484 | ENSG00000170871.7 | ENST00000307659.5,ENST00000425103.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIAA0232 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422460 | 4 | 6784466:6784568:6806249:6806333:6825911:6826020 | 6806249:6806333 | ENSG00000170871.7 | ENST00000307659.5 |
| exon_skip_422461 | 4 | 6784466:6784568:6825911:6826411:6843793:6843931 | 6825911:6826411 | ENSG00000170871.7 | ENST00000425103.1 |
| exon_skip_422465 | 4 | 6825911:6826411:6843793:6843931:6858890:6858957 | 6843793:6843931 | ENSG00000170871.7 | ENST00000425103.1,ENST00000307659.5 |
| exon_skip_422476 | 4 | 6873300:6873409:6878386:6878484:6882513:6882640 | 6878386:6878484 | ENSG00000170871.7 | ENST00000425103.1,ENST00000307659.5 |
| 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 KIAA0232 |
| 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 |
| ENST00000425103 | 6825911 | 6826411 | 5CDS-5UTR |
| ENST00000307659 | 6806249 | 6806333 | 5UTR-5UTR |
| ENST00000307659 | 6860151 | 6860233 | Frame-shift |
| ENST00000425103 | 6860151 | 6860233 | Frame-shift |
| ENST00000307659 | 6878386 | 6878484 | Frame-shift |
| ENST00000425103 | 6878386 | 6878484 | Frame-shift |
| ENST00000307659 | 6843793 | 6843931 | In-frame |
| ENST00000425103 | 6843793 | 6843931 | 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 |
| ENST00000425103 | 6825911 | 6826411 | 5CDS-5UTR |
| ENST00000307659 | 6806249 | 6806333 | 5UTR-5UTR |
| ENST00000307659 | 6878386 | 6878484 | Frame-shift |
| ENST00000425103 | 6878386 | 6878484 | Frame-shift |
| ENST00000307659 | 6843793 | 6843931 | In-frame |
| ENST00000425103 | 6843793 | 6843931 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIAA0232 |
| 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 |
| ENST00000307659 | 7858 | 1395 | 6843793 | 6843931 | 687 | 824 | 77 | 123 |
| ENST00000425103 | 7788 | 1395 | 6843793 | 6843931 | 611 | 748 | 77 | 123 |
| 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 |
| ENST00000307659 | 7858 | 1395 | 6843793 | 6843931 | 687 | 824 | 77 | 123 |
| ENST00000425103 | 7788 | 1395 | 6843793 | 6843931 | 611 | 748 | 77 | 123 |
| 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 |
| Q92628 | 77 | 123 | 1 | 1395 | Chain | ID=PRO_0000050738;Note=Uncharacterized protein KIAA0232 |
| Q92628 | 77 | 123 | 1 | 1395 | Chain | ID=PRO_0000050738;Note=Uncharacterized protein KIAA0232 |
| Q92628 | 77 | 123 | 89 | 96 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92628 | 77 | 123 | 89 | 96 | Nucleotide binding | Note=ATP;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 |
| Q92628 | 77 | 123 | 1 | 1395 | Chain | ID=PRO_0000050738;Note=Uncharacterized protein KIAA0232 |
| Q92628 | 77 | 123 | 1 | 1395 | Chain | ID=PRO_0000050738;Note=Uncharacterized protein KIAA0232 |
| Q92628 | 77 | 123 | 89 | 96 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92628 | 77 | 123 | 89 | 96 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for KIAA0232 |
| - 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-G3-A3CJ-01 | exon_skip_422461 | 6825912 | 6826411 | 6826363 | 6826363 | Frame_Shift_Del | C | - | p.V61fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_422470 | 6860152 | 6860233 | 6860177 | 6860177 | Frame_Shift_Del | G | - | p.E154fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_422476 | 6878387 | 6878484 | 6878457 | 6878457 | Frame_Shift_Del | T | - | p.N1327fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_422476 | 6878387 | 6878484 | 6878457 | 6878457 | Frame_Shift_Del | T | - | p.N1327fs |
| STAD | TCGA-BR-8081-01 | exon_skip_422465 | 6843794 | 6843931 | 6843886 | 6843887 | Frame_Shift_Ins | - | A | p.M108fs |
| STAD | TCGA-BR-8081-01 | exon_skip_422465 | 6843794 | 6843931 | 6843887 | 6843888 | Frame_Shift_Ins | - | A | p.M108fs |
| UCEC | TCGA-AX-A05S-01 | exon_skip_422461 | 6825912 | 6826411 | 6826396 | 6826396 | Nonsense_Mutation | C | G | p.Y72* |
| BLCA | TCGA-FD-A3B3-01 | exon_skip_422465 | 6843794 | 6843931 | 6843914 | 6843914 | Nonsense_Mutation | C | T | p.R118* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_422465 | 6843794 | 6843931 | 6843914 | 6843914 | Nonsense_Mutation | C | T | p.R118* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_422465 | 6843794 | 6843931 | 6843914 | 6843914 | Nonsense_Mutation | C | T | p.R118X |
| LUAD | TCGA-49-4506-01 | exon_skip_422470 | 6860152 | 6860233 | 6860175 | 6860175 | Nonsense_Mutation | G | T | p.E154* |
| UCEC | TCGA-BS-A0UJ-01 | exon_skip_422461 | 6825912 | 6826411 | 6826412 | 6826412 | Splice_Site | G | A | e1+1 |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 6825912 | 6826411 | 6826353 | 6826354 | Frame_Shift_Del | CT | - | p.T58fs |
| SW48_LARGE_INTESTINE | 6843794 | 6843931 | 6843840 | 6843840 | Frame_Shift_Del | G | - | p.W93fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 6825912 | 6826411 | 6826350 | 6826351 | Frame_Shift_Ins | - | TT | p.T58fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 6825912 | 6826411 | 6826229 | 6826229 | Missense_Mutation | T | A | p.S17T |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6825912 | 6826411 | 6826229 | 6826229 | Missense_Mutation | T | A | p.S17T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 6825912 | 6826411 | 6826267 | 6826267 | Missense_Mutation | A | C | p.E29D |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6825912 | 6826411 | 6826267 | 6826267 | Missense_Mutation | A | C | p.E29D |
| ETK1_BILIARY_TRACT | 6825912 | 6826411 | 6826281 | 6826281 | Missense_Mutation | A | G | p.H34R |
| HEC108_ENDOMETRIUM | 6825912 | 6826411 | 6826295 | 6826295 | Missense_Mutation | G | A | p.V39M |
| KMH2_THYROID | 6843794 | 6843931 | 6843833 | 6843833 | Missense_Mutation | A | C | p.K91Q |
| KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6843794 | 6843931 | 6843849 | 6843849 | Missense_Mutation | G | A | p.S96N |
| PACADD137_PANCREAS | 6860152 | 6860233 | 6860194 | 6860194 | Missense_Mutation | A | T | p.E160V |
| NCIH1092_LUNG | 6878387 | 6878484 | 6878407 | 6878407 | Missense_Mutation | G | C | p.G1311R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIAA0232 |
| 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 KIAA0232 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA0232 |
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RelatedDrugs for KIAA0232 |
| 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 KIAA0232 |
| 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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