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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 IGSF21 |
 Gene summary |
| Gene information | Gene symbol | IGSF21 | Gene ID | 84966 |
| Gene name | immunoglobin superfamily member 21 | |
| Synonyms | - | |
| Cytomap | 1p36.13 | |
| Type of gene | protein-coding | |
| Description | immunoglobulin superfamily member 21 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96ID5 | |
| Context | PubMed: IGSF21 [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 IGSF21 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 IGSF21 |
| 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 IGSF21 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2134 | 1 | 18618359:18618481:18661385:18661504:18688608:18688724 | 18661385:18661504 | ENSG00000117154.7 | ENST00000251296.1,ENST00000412684.1 |
| exon_skip_2136 | 1 | 18692112:18692191:18702803:18702889:18703293:18703414 | 18702803:18702889 | ENSG00000117154.7 | ENST00000251296.1,ENST00000497331.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IGSF21 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2134 | 1 | 18618359:18618481:18661385:18661504:18688608:18688724 | 18661385:18661504 | ENSG00000117154.7 | ENST00000251296.1,ENST00000412684.1 |
| exon_skip_2136 | 1 | 18692112:18692191:18702803:18702889:18703293:18703414 | 18702803:18702889 | ENSG00000117154.7 | ENST00000251296.1,ENST00000497331.2 |
| 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 IGSF21 |
| 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 |
| ENST00000251296 | 18661385 | 18661504 | Frame-shift |
| ENST00000251296 | 18702803 | 18702889 | Frame-shift |
| 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 |
| ENST00000251296 | 18661385 | 18661504 | Frame-shift |
| ENST00000251296 | 18702803 | 18702889 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for IGSF21 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for IGSF21 |
| - 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 |
| BLCA | TCGA-DK-A3WW-01 | exon_skip_2134 | 18661386 | 18661504 | 18661423 | 18661423 | Nonsense_Mutation | G | T | p.E115* |
| SKCM | TCGA-EE-A29G-06 | exon_skip_2136 | 18702804 | 18702889 | 18702887 | 18702887 | Nonsense_Mutation | C | T | p.Q367* |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_2136 | 18702804 | 18702889 | 18702887 | 18702887 | Nonsense_Mutation | C | T | p.Q367* |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_2136 | 18702804 | 18702889 | 18702887 | 18702887 | Nonsense_Mutation | C | T | p.Q367X |
| - 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 |
| KNS60_CENTRAL_NERVOUS_SYSTEM | 18661386 | 18661504 | 18661399 | 18661399 | Missense_Mutation | C | T | p.R107W |
| NCIH835_LUNG | 18661386 | 18661504 | 18661421 | 18661421 | Missense_Mutation | A | G | p.Y114C |
| PCI15A_UPPER_AERODIGESTIVE_TRACT | 18661386 | 18661504 | 18661447 | 18661447 | Missense_Mutation | C | A | p.R123S |
| LMSU_STOMACH | 18702804 | 18702889 | 18702833 | 18702833 | Missense_Mutation | A | T | p.T349S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IGSF21 |
| 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 IGSF21 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IGSF21 |
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RelatedDrugs for IGSF21 |
| 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 IGSF21 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| IGSF21 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
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