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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 KIRREL2 |
 Gene summary |
| Gene information | Gene symbol | KIRREL2 | Gene ID | 84063 |
| Gene name | kirre like nephrin family adhesion molecule 2 | |
| Synonyms | FILTRIN|NEPH3|NLG1 | |
| Cytomap | 19q13.12 | |
| Type of gene | protein-coding | |
| Description | kin of IRRE-like protein 2kin of IRRE like 2kin of irregular chiasm-like protein 2nephrin-like gene 1nephrin-like protein 3 | |
| Modification date | 20180526 | |
| UniProtAcc | Q6UWL6 | |
| Context | PubMed: KIRREL2 [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 KIRREL2 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 KIRREL2 |
| 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 KIRREL2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_306004 | 19 | 36348007:36348082:36348246:36348396:36349309:36349459 | 36348246:36348396 | ENSG00000126259.15 | ENST00000360202.5,ENST00000262625.7,ENST00000586102.3,ENST00000592409.1 |
| exon_skip_306005 | 19 | 36349309:36349459:36349605:36349766:36350382:36350433 | 36349605:36349766 | ENSG00000126259.15 | ENST00000360202.5,ENST00000262625.7,ENST00000347900.6,ENST00000586102.3,ENST00000592409.1 |
| exon_skip_306007 | 19 | 36352442:36352543:36352706:36352926:36353828:36353938 | 36352706:36352926 | ENSG00000126259.15 | ENST00000592409.1 |
| exon_skip_306008 | 19 | 36352706:36352926:36353394:36353499:36353828:36353938 | 36353394:36353499 | ENSG00000126259.15 | ENST00000360202.5,ENST00000262625.7,ENST00000347900.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIRREL2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_306004 | 19 | 36348007:36348082:36348246:36348396:36349309:36349459 | 36348246:36348396 | ENSG00000126259.15 | ENST00000586102.3,ENST00000592409.1,ENST00000360202.5,ENST00000262625.7 |
| exon_skip_306005 | 19 | 36349309:36349459:36349605:36349766:36350382:36350433 | 36349605:36349766 | ENSG00000126259.15 | ENST00000586102.3,ENST00000592409.1,ENST00000347900.6,ENST00000360202.5,ENST00000262625.7 |
| exon_skip_306007 | 19 | 36352442:36352543:36352706:36352926:36353828:36353938 | 36352706:36352926 | ENSG00000126259.15 | ENST00000592409.1 |
| exon_skip_306008 | 19 | 36352706:36352926:36353394:36353499:36353828:36353938 | 36353394:36353499 | ENSG00000126259.15 | ENST00000347900.6,ENST00000360202.5,ENST00000262625.7 |
| 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 KIRREL2 |
| 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 |
| ENST00000360202 | 36349605 | 36349766 | Frame-shift |
| ENST00000360202 | 36348246 | 36348396 | In-frame |
| ENST00000360202 | 36353394 | 36353499 | 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 |
| ENST00000360202 | 36349605 | 36349766 | Frame-shift |
| ENST00000360202 | 36348246 | 36348396 | In-frame |
| ENST00000360202 | 36353394 | 36353499 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIRREL2 |
| 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 |
| ENST00000360202 | 2959 | 708 | 36348246 | 36348396 | 260 | 409 | 20 | 70 |
| ENST00000360202 | 2959 | 708 | 36353394 | 36353499 | 1709 | 1813 | 503 | 538 |
| 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 |
| ENST00000360202 | 2959 | 708 | 36348246 | 36348396 | 260 | 409 | 20 | 70 |
| ENST00000360202 | 2959 | 708 | 36353394 | 36353499 | 1709 | 1813 | 503 | 538 |
| 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 KIRREL2 |
| - 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-DD-A3A0-01 | exon_skip_306004 | 36348247 | 36348396 | 36348375 | 36348375 | Frame_Shift_Del | G | - | p.G65fs |
| STAD | TCGA-BR-6566-01 | exon_skip_306005 | 36349606 | 36349766 | 36349618 | 36349618 | Frame_Shift_Del | C | - | p.A125fs |
| UCEC | TCGA-B5-A0K6-01 | exon_skip_306004 | 36348247 | 36348396 | 36348336 | 36348337 | Frame_Shift_Ins | - | G | p.W51fs |
| LUSC | TCGA-60-2698-01 | exon_skip_306004 | 36348247 | 36348396 | 36348353 | 36348353 | Nonsense_Mutation | G | A | p.W56* |
| SKCM | TCGA-GN-A26C-01 | exon_skip_306005 | 36349606 | 36349766 | 36349728 | 36349728 | Nonsense_Mutation | C | T | p.R162* |
| KICH | TCGA-KN-8428-01 | exon_skip_306005 | 36349606 | 36349766 | 36349605 | 36349605 | Splice_Site | G | A | . |
| KICH | TCGA-KN-8428-01 | exon_skip_306005 | 36349606 | 36349766 | 36349605 | 36349605 | Splice_Site | G | A | p.V121_splice |
| HNSC | TCGA-DQ-5630-01 | exon_skip_306008 | 36353395 | 36353499 | 36353394 | 36353394 | Splice_Site | G | T | p.D504_splice |
| - 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 |
| LOVO_LARGE_INTESTINE | 36349606 | 36349766 | 36349618 | 36349618 | Frame_Shift_Del | C | - | p.A125fs |
| CHAGOK1_LUNG | 36348247 | 36348396 | 36348333 | 36348333 | Missense_Mutation | T | C | p.Y50H |
| MEWO_SKIN | 36349606 | 36349766 | 36349638 | 36349638 | Missense_Mutation | C | T | p.P132S |
| SW756_CERVIX | 36349606 | 36349766 | 36349642 | 36349642 | Missense_Mutation | C | G | p.S133C |
| NCIH1876_LUNG | 36349606 | 36349766 | 36349753 | 36349753 | Missense_Mutation | C | A | p.A170D |
| SCABER_URINARY_TRACT | 36352707 | 36352926 | 36352738 | 36352738 | Missense_Mutation | C | T | p.A441V |
| HCC33_LUNG | 36352707 | 36352926 | 36352744 | 36352744 | Missense_Mutation | C | T | p.S443L |
| MEWO_SKIN | 36352707 | 36352926 | 36352816 | 36352816 | Missense_Mutation | C | T | p.S467F |
| CCK81_LARGE_INTESTINE | 36353395 | 36353499 | 36353412 | 36353412 | Missense_Mutation | C | T | p.R510W |
| WM88_SKIN | 36353395 | 36353499 | 36353487 | 36353487 | Missense_Mutation | C | G | p.R535G |
| NCIH2342_LUNG | 36353395 | 36353499 | 36353488 | 36353488 | Missense_Mutation | G | C | p.R535P |
| SW756_CERVIX | 36349606 | 36349766 | 36349764 | 36349764 | Nonsense_Mutation | C | T | p.Q174* |
| SKLU1_LUNG | 36352707 | 36352926 | 36352764 | 36352764 | Nonsense_Mutation | G | T | p.E450* |
| 2313287_STOMACH | 36349606 | 36349766 | 36349607 | 36349607 | Splice_Site | C | - | p.V121fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIRREL2 |
| 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 KIRREL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIRREL2 |
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RelatedDrugs for KIRREL2 |
| 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 KIRREL2 |
| 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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