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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 KIAA1257 |
 Gene summary |
| Gene information | Gene symbol | KIAA1257 | Gene ID | 57501 |
| Gene name | KIAA1257 | |
| Synonyms | - | |
| Cytomap | 3q21.3 | |
| Type of gene | protein-coding | |
| Description | uncharacterized protein KIAA1257 | |
| Modification date | 20180409 | |
| UniProtAcc | Q9ULG3 | |
| Context | PubMed: KIAA1257 [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 KIAA1257 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 KIAA1257 |
| 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 KIAA1257 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_388021 | 3 | 128695855:128695909:128696887:128697028:128706458:128706672 | 128696887:128697028 | ENSG00000114656.6 | ENST00000511438.1,ENST00000515659.1,ENST00000510149.1,ENST00000265068.5 |
| exon_skip_388031 | 3 | 128706458:128706672:128707570:128707761:128710321:128710740 | 128707570:128707761 | ENSG00000114656.6 | ENST00000515659.1 |
| exon_skip_388032 | 3 | 128706458:128706672:128707570:128707761:128711885:128712179 | 128707570:128707761 | ENSG00000114656.6 | ENST00000265068.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIAA1257 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_388021 | 3 | 128695855:128695909:128696887:128697028:128706458:128706672 | 128696887:128697028 | ENSG00000114656.6 | ENST00000511438.1,ENST00000265068.5,ENST00000515659.1,ENST00000510149.1 |
| exon_skip_388031 | 3 | 128706458:128706672:128707570:128707761:128710321:128710740 | 128707570:128707761 | ENSG00000114656.6 | ENST00000515659.1 |
| exon_skip_388032 | 3 | 128706458:128706672:128707570:128707761:128711885:128712179 | 128707570:128707761 | ENSG00000114656.6 | ENST00000265068.5 |
| 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 KIAA1257 |
| 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 |
| ENST00000265068 | 128707570 | 128707761 | Frame-shift |
| ENST00000265068 | 128696887 | 128697028 | 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 |
| ENST00000265068 | 128707570 | 128707761 | Frame-shift |
| ENST00000265068 | 128696887 | 128697028 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIAA1257 |
| 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 |
| ENST00000265068 | 6051 | 409 | 128696887 | 128697028 | 836 | 976 | 222 | 269 |
| 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 |
| ENST00000265068 | 6051 | 409 | 128696887 | 128697028 | 836 | 976 | 222 | 269 |
| 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 |
| Q9ULG3 | 222 | 269 | 1 | 409 | Chain | ID=PRO_0000320679;Note=Uncharacterized protein KIAA1257 |
| 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 |
| Q9ULG3 | 222 | 269 | 1 | 409 | Chain | ID=PRO_0000320679;Note=Uncharacterized protein KIAA1257 |
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SNVs in the skipped exons for KIAA1257 |
| - 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 |
| PRAD | TCGA-EJ-7317-01 | exon_skip_388021 | 128696888 | 128697028 | 128696988 | 128696988 | Frame_Shift_Del | T | - | p.E236fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_388021 | 128696888 | 128697028 | 128696921 | 128696921 | Nonsense_Mutation | C | A | p.E259* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_388021 | 128696888 | 128697028 | 128696954 | 128696954 | Nonsense_Mutation | C | A | p.E248* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_388021 | 128696888 | 128697028 | 128696954 | 128696954 | Nonsense_Mutation | C | A | p.E248X |
| LUAD | TCGA-55-A4DF-01 | exon_skip_388021 | 128696888 | 128697028 | 128697005 | 128697005 | Nonsense_Mutation | G | A | p.Q231* |
| SKCM | TCGA-D3-A3CB-06 | exon_skip_388021 | 128696888 | 128697028 | 128697005 | 128697005 | Nonsense_Mutation | G | A | p.Q231* |
| SKCM | TCGA-D3-A3CB-06 | exon_skip_388021 | 128696888 | 128697028 | 128697005 | 128697005 | Nonsense_Mutation | G | A | p.Q231X |
| - 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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128696888 | 128697028 | 128696914 | 128696915 | Frame_Shift_Ins | - | T | p.T261fs |
| COLO678_LARGE_INTESTINE | 128696888 | 128697028 | 128696914 | 128696915 | Frame_Shift_Ins | - | T | p.T261fs |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128696888 | 128697028 | 128696914 | 128696915 | Frame_Shift_Ins | - | T | p.T261fs |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128696888 | 128697028 | 128696914 | 128696915 | Frame_Shift_Ins | - | T | p.T261fs |
| SNU81_LARGE_INTESTINE | 128696888 | 128697028 | 128696918 | 128696918 | Missense_Mutation | T | G | p.K260Q |
| TE1_OESOPHAGUS | 128707571 | 128707761 | 128707626 | 128707626 | Missense_Mutation | A | G | p.V133A |
| COLO201_LARGE_INTESTINE | 128707571 | 128707761 | 128707650 | 128707650 | Missense_Mutation | G | A | p.P125L |
| COLO205_LARGE_INTESTINE | 128707571 | 128707761 | 128707650 | 128707650 | Missense_Mutation | G | A | p.P125L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIAA1257 |
| 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 KIAA1257 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA1257 |
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RelatedDrugs for KIAA1257 |
| 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 KIAA1257 |
| 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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