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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for UBALD1 |
Gene summary |
Gene information | Gene symbol | UBALD1 | Gene ID | 124402 |
Gene name | UBA like domain containing 1 | |
Synonyms | FAM100A|PP11303 | |
Cytomap | 16p13.3 | |
Type of gene | protein-coding | |
Description | UBA-like domain-containing protein 1family with sequence similarity 100, member Aprotein FAM100A | |
Modification date | 20180402 | |
UniProtAcc | Q8TB05 | |
Context | PubMed: UBALD1 [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 UBALD1 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 UBALD1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for UBALD1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_141521 | 16 | 4659368:4659909:4660493:4660556:4664678:4664873 | 4660493:4660556 | ENSG00000153443.8 | ENST00000587615.1 |
exon_skip_141525 | 16 | 4659831:4659984:4660493:4660556:4664678:4664873 | 4660493:4660556 | ENSG00000153443.8 | ENST00000283474.7 |
exon_skip_141526 | 16 | 4659831:4659984:4660493:4660657:4664678:4664873 | 4660493:4660657 | ENSG00000153443.8 | ENST00000590965.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UBALD1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_141521 | 16 | 4659368:4659909:4660493:4660556:4664678:4664873 | 4660493:4660556 | ENSG00000153443.8 | ENST00000587615.1 |
exon_skip_141525 | 16 | 4659831:4659984:4660493:4660556:4664678:4664873 | 4660493:4660556 | ENSG00000153443.8 | ENST00000283474.7 |
exon_skip_141526 | 16 | 4659831:4659984:4660493:4660657:4664678:4664873 | 4660493:4660657 | ENSG00000153443.8 | ENST00000590965.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for UBALD1 |
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 |
ENST00000283474 | 4660493 | 4660556 | 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 |
ENST00000283474 | 4660493 | 4660556 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBALD1 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000283474 | 1430 | 177 | 4660493 | 4660556 | 250 | 312 | 40 | 61 |
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 |
ENST00000283474 | 1430 | 177 | 4660493 | 4660556 | 250 | 312 | 40 | 61 |
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 |
Q8TB05 | 40 | 61 | 1 | 61 | Alternative sequence | ID=VSP_018573;Note=In isoform 2. MSVNMDELKHQVMINQFVLTAGCAADQAKQLLQAAHWQFETALSAFFQETNIPYSHHHHQM->MKLLTLQPPGMLWLMERGGLGKPRGPRHRGLLRVRLGRFISRLLLWEPLGGGQAWGSGEGTQSLPRMGQPRISPWEAVGAPPGRGAHPISPLFPSQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15498874 |
Q8TB05 | 40 | 61 | 1 | 177 | Chain | ID=PRO_0000236079;Note=UBA-like domain-containing protein 1 |
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 |
Q8TB05 | 40 | 61 | 1 | 61 | Alternative sequence | ID=VSP_018573;Note=In isoform 2. MSVNMDELKHQVMINQFVLTAGCAADQAKQLLQAAHWQFETALSAFFQETNIPYSHHHHQM->MKLLTLQPPGMLWLMERGGLGKPRGPRHRGLLRVRLGRFISRLLLWEPLGGGQAWGSGEGTQSLPRMGQPRISPWEAVGAPPGRGAHPISPLFPSQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15498874 |
Q8TB05 | 40 | 61 | 1 | 177 | Chain | ID=PRO_0000236079;Note=UBA-like domain-containing protein 1 |
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SNVs in the skipped exons for UBALD1 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
PCPG | TCGA-WB-A81M-01 | exon_skip_141526 | 4660494 | 4660657 | 4660590 | 4660591 | Frame_Shift_Ins | - | C | p.L63fs |
- 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 | 4660494 | 4660657 | 4660504 | 4660506 | In_Frame_Del | TGA | - | p.57_58HH>H |
BICR18_UPPER_AERODIGESTIVE_TRACT | 4660494 | 4660556 | 4660504 | 4660506 | In_Frame_Del | TGA | - | p.57_58HH>H |
S117_SOFT_TISSUE | 4660494 | 4660657 | 4660504 | 4660506 | In_Frame_Del | TGA | - | p.57_58HH>H |
S117_SOFT_TISSUE | 4660494 | 4660556 | 4660504 | 4660506 | In_Frame_Del | TGA | - | p.57_58HH>H |
JHOS2_OVARY | 4660494 | 4660657 | 4660513 | 4660513 | Missense_Mutation | C | G | p.S55T |
JHOS2_OVARY | 4660494 | 4660556 | 4660513 | 4660513 | Missense_Mutation | C | G | p.S55T |
MORCPR_LUNG | 4660494 | 4660657 | 4660533 | 4660533 | Missense_Mutation | C | A | p.Q48H |
MORCPR_LUNG | 4660494 | 4660556 | 4660533 | 4660533 | Missense_Mutation | C | A | p.Q48H |
BICR18_UPPER_AERODIGESTIVE_TRACT | 4660494 | 4660657 | 4660544 | 4660544 | Missense_Mutation | C | T | p.A45T |
BICR18_UPPER_AERODIGESTIVE_TRACT | 4660494 | 4660556 | 4660544 | 4660544 | Missense_Mutation | C | T | p.A45T |
S117_SOFT_TISSUE | 4660494 | 4660657 | 4660544 | 4660544 | Missense_Mutation | C | T | p.A45T |
S117_SOFT_TISSUE | 4660494 | 4660556 | 4660544 | 4660544 | Missense_Mutation | C | T | p.A45T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBALD1 |
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 UBALD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBALD1 |
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RelatedDrugs for UBALD1 |
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 UBALD1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |