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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 AXIN2 |
 Gene summary |
| Gene information | Gene symbol | AXIN2 | Gene ID | 8313 |
| Gene name | axin 2 | |
| Synonyms | AXIL|ODCRCS | |
| Cytomap | 17q24.1 | |
| Type of gene | protein-coding | |
| Description | axin-2axin-like proteinaxis inhibition protein 2conductin | |
| Modification date | 20180522 | |
| UniProtAcc | Q9Y2T1 | |
| Context | PubMed: AXIN2 [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 |
| AXIN2 | GO:0034613 | cellular protein localization | 17072303 |
| AXIN2 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 11940574 |
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Exon skipping events across known transcript of Ensembl for AXIN2 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 AXIN2 |
| 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 AXIN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_292556 | 17 | 63530068:63530197:63531743:63531839:63532437:63532671 | 63531743:63531839 | ENSG00000168646.8 | ENST00000307078.5,ENST00000375702.5,ENST00000578251.1 |
| exon_skip_292558 | 17 | 63532437:63532671:63532986:63533181:63533441:63533953 | 63532986:63533181 | ENSG00000168646.8 | ENST00000307078.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AXIN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_292556 | 17 | 63530068:63530197:63531743:63531839:63532437:63532671 | 63531743:63531839 | ENSG00000168646.8 | ENST00000307078.5,ENST00000375702.5,ENST00000578251.1 |
| exon_skip_292558 | 17 | 63532437:63532671:63532986:63533181:63533441:63533953 | 63532986:63533181 | ENSG00000168646.8 | ENST00000307078.5 |
| 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 AXIN2 |
| 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 |
| ENST00000307078 | 63531743 | 63531839 | In-frame |
| ENST00000307078 | 63532986 | 63533181 | 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 |
| ENST00000307078 | 63531743 | 63531839 | In-frame |
| ENST00000307078 | 63532986 | 63533181 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AXIN2 |
| 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 |
| ENST00000307078 | 4276 | 843 | 63532986 | 63533181 | 2027 | 2221 | 571 | 635 |
| ENST00000307078 | 4276 | 843 | 63531743 | 63531839 | 2456 | 2551 | 714 | 745 |
| 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 |
| ENST00000307078 | 4276 | 843 | 63532986 | 63533181 | 2027 | 2221 | 571 | 635 |
| ENST00000307078 | 4276 | 843 | 63531743 | 63531839 | 2456 | 2551 | 714 | 745 |
| 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 |
| Q9Y2T1 | 571 | 635 | 1 | 843 | Chain | ID=PRO_0000220895;Note=Axin-2 |
| Q9Y2T1 | 571 | 635 | 572 | 636 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y2T1 | 714 | 745 | 1 | 843 | Chain | ID=PRO_0000220895;Note=Axin-2 |
| 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 |
| Q9Y2T1 | 571 | 635 | 1 | 843 | Chain | ID=PRO_0000220895;Note=Axin-2 |
| Q9Y2T1 | 571 | 635 | 572 | 636 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y2T1 | 714 | 745 | 1 | 843 | Chain | ID=PRO_0000220895;Note=Axin-2 |
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SNVs in the skipped exons for AXIN2 |
| - 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 |
| HNSC | TCGA-CV-7568-01 | exon_skip_292558 | 63532987 | 63533181 | 63533090 | 63533090 | Nonsense_Mutation | C | A | p.G602* |
| - 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 |
| GP2D_LARGE_INTESTINE | 63531744 | 63531839 | 63531786 | 63531786 | Missense_Mutation | G | A | p.T667M |
| GP5D_LARGE_INTESTINE | 63531744 | 63531839 | 63531786 | 63531786 | Missense_Mutation | G | A | p.T667M |
| VMRCLCD_LUNG | 63531744 | 63531839 | 63531788 | 63531788 | Missense_Mutation | C | A | p.Q666H |
| OMC1_CERVIX | 63531744 | 63531839 | 63531828 | 63531828 | Missense_Mutation | G | C | p.A653G |
| T84_LARGE_INTESTINE | 63532987 | 63533181 | 63532993 | 63532993 | Missense_Mutation | G | C | p.P634R |
| HEC59_ENDOMETRIUM | 63532987 | 63533181 | 63533050 | 63533050 | Missense_Mutation | C | A | p.R615M |
| HEC1A_ENDOMETRIUM | 63532987 | 63533181 | 63533065 | 63533065 | Missense_Mutation | C | T | p.R610Q |
| MIAPACA2_PANCREAS | 63532987 | 63533181 | 63533065 | 63533065 | Missense_Mutation | C | T | p.R610Q |
| HEC1_ENDOMETRIUM | 63532987 | 63533181 | 63533065 | 63533065 | Missense_Mutation | C | T | p.R610Q |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63532987 | 63533181 | 63533072 | 63533072 | Missense_Mutation | G | C | p.L608V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 63532987 | 63533181 | 63533086 | 63533086 | Missense_Mutation | G | A | p.A603V |
| MM426_SKIN | 63532987 | 63533181 | 63533140 | 63533140 | Missense_Mutation | C | T | p.G585D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AXIN2 |
| 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 AXIN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AXIN2 |
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RelatedDrugs for AXIN2 |
| 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 AXIN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AXIN2 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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