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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 ITLN2 |
 Gene summary |
| Gene information | Gene symbol | ITLN2 | Gene ID | 142683 |
| Gene name | intelectin 2 | |
| Synonyms | HL-2|HL2 | |
| Cytomap | 1q23.3 | |
| Type of gene | protein-coding | |
| Description | intelectin-2endothelial lectin HL-2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8WWU7 | |
| Context | PubMed: ITLN2 [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 ITLN2 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 ITLN2 |
| 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 ITLN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_33947 | 1 | 160914883:160915082:160917718:160917822:160919835:160919956 | 160917718:160917822 | ENSG00000158764.6 | ENST00000368029.3,ENST00000494442.1 |
| exon_skip_33948 | 1 | 160917718:160917822:160919835:160919956:160920342:160920501 | 160919835:160919956 | ENSG00000158764.6 | ENST00000368029.3,ENST00000494442.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITLN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_33947 | 1 | 160914883:160915082:160917718:160917822:160919835:160919956 | 160917718:160917822 | ENSG00000158764.6 | ENST00000368029.3,ENST00000494442.1 |
| exon_skip_33948 | 1 | 160917718:160917822:160919835:160919956:160920342:160920501 | 160919835:160919956 | ENSG00000158764.6 | ENST00000368029.3,ENST00000494442.1 |
| 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 ITLN2 |
| 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 |
| ENST00000368029 | 160917718 | 160917822 | Frame-shift |
| ENST00000368029 | 160919835 | 160919956 | 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 |
| ENST00000368029 | 160917718 | 160917822 | Frame-shift |
| ENST00000368029 | 160919835 | 160919956 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ITLN2 |
| 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 ITLN2 |
| - 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 |
| KIRC | TCGA-CZ-5462-01 | exon_skip_33948 | 160919836 | 160919956 | 160919906 | 160919907 | Frame_Shift_Ins | - | G | p.P217fs |
| LUSC | TCGA-46-6025-01 | exon_skip_33947 | 160917719 | 160917822 | 160917718 | 160917718 | Splice_Site | C | G | p.H275_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 |
| BXPC3_PANCREAS | 160919836 | 160919956 | 160919930 | 160919930 | Frame_Shift_Del | C | - | p.G209fs |
| RH30_SOFT_TISSUE | 160917719 | 160917822 | 160917746 | 160917746 | Missense_Mutation | T | C | p.I266M |
| SJRH30_SOFT_TISSUE | 160917719 | 160917822 | 160917746 | 160917746 | Missense_Mutation | T | C | p.I266M |
| CHLA99_BONE | 160917719 | 160917822 | 160917774 | 160917774 | Missense_Mutation | C | G | p.R257T |
| SW684_SOFT_TISSUE | 160917719 | 160917822 | 160917820 | 160917820 | Missense_Mutation | C | T | p.E242K |
| HEC1A_ENDOMETRIUM | 160919836 | 160919956 | 160919848 | 160919848 | Missense_Mutation | G | A | p.P237S |
| HS675T_FIBROBLAST | 160919836 | 160919956 | 160919875 | 160919875 | Missense_Mutation | C | A | p.A228S |
| HCC2450_LUNG | 160919836 | 160919956 | 160919922 | 160919922 | Missense_Mutation | C | G | p.W212S |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 160919836 | 160919956 | 160919836 | 160919836 | Splice_Site | G | A | p.R241W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITLN2 |
| 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 ITLN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITLN2 |
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RelatedDrugs for ITLN2 |
| 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 ITLN2 |
| 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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