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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 AMOTL2 |
 Gene summary |
| Gene information | Gene symbol | AMOTL2 | Gene ID | 51421 |
| Gene name | angiomotin like 2 | |
| Synonyms | LCCP | |
| Cytomap | 3q22.2 | |
| Type of gene | protein-coding | |
| Description | angiomotin-like protein 2Leman coiled-coil protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y2J4 | |
| Context | PubMed: AMOTL2 [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 AMOTL2 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 AMOTL2 |
| 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 AMOTL2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_388761 | 3 | 134076392:134076605:134077381:134077558:134078124:134078345 | 134077381:134077558 | ENSG00000114019.10 | ENST00000422605.2,ENST00000514516.1,ENST00000513145.1 |
| exon_skip_388762 | 3 | 134076392:134076605:134077381:134077561:134078124:134078345 | 134077381:134077561 | ENSG00000114019.10 | ENST00000506326.1,ENST00000249883.5 |
| exon_skip_388764 | 3 | 134080353:134080649:134084658:134084751:134085124:134085269 | 134084658:134084751 | ENSG00000114019.10 | ENST00000506326.1,ENST00000422605.2,ENST00000514516.1,ENST00000249883.5,ENST00000513145.1 |
| exon_skip_388765 | 3 | 134085124:134085269:134086338:134086645:134089541:134090336 | 134086338:134086645 | ENSG00000114019.10 | ENST00000422605.2,ENST00000514516.1,ENST00000249883.5,ENST00000513145.1 |
| exon_skip_388768 | 3 | 134090176:134090336:134092357:134092444:134092527:134092630 | 134092357:134092444 | ENSG00000114019.10 | ENST00000510560.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AMOTL2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_388761 | 3 | 134076392:134076605:134077381:134077558:134078124:134078345 | 134077381:134077558 | ENSG00000114019.10 | ENST00000422605.2,ENST00000514516.1,ENST00000513145.1 |
| exon_skip_388762 | 3 | 134076392:134076605:134077381:134077561:134078124:134078345 | 134077381:134077561 | ENSG00000114019.10 | ENST00000249883.5,ENST00000506326.1 |
| exon_skip_388764 | 3 | 134080353:134080649:134084658:134084751:134085124:134085269 | 134084658:134084751 | ENSG00000114019.10 | ENST00000249883.5,ENST00000422605.2,ENST00000514516.1,ENST00000506326.1,ENST00000513145.1 |
| exon_skip_388765 | 3 | 134085124:134085269:134086338:134086645:134089541:134090336 | 134086338:134086645 | ENSG00000114019.10 | ENST00000249883.5,ENST00000422605.2,ENST00000514516.1,ENST00000513145.1 |
| exon_skip_388766 | 3 | 134090176:134090336:134090523:134090685:134092883:134093096 | 134090523:134090685 | ENSG00000114019.10 | ENST00000502491.1 |
| exon_skip_388768 | 3 | 134090176:134090336:134092357:134092444:134092527:134092630 | 134092357:134092444 | ENSG00000114019.10 | ENST00000510560.1 |
| 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 AMOTL2 |
| 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 |
| ENST00000422605 | 134086338 | 134086645 | Frame-shift |
| ENST00000422605 | 134077381 | 134077558 | In-frame |
| ENST00000422605 | 134084658 | 134084751 | 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 |
| ENST00000422605 | 134086338 | 134086645 | Frame-shift |
| ENST00000422605 | 134077381 | 134077558 | In-frame |
| ENST00000422605 | 134084658 | 134084751 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AMOTL2 |
| 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 |
| ENST00000422605 | 4352 | 779 | 134084658 | 134084751 | 1354 | 1446 | 395 | 426 |
| ENST00000422605 | 4352 | 779 | 134077381 | 134077558 | 2272 | 2448 | 701 | 760 |
| 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 |
| ENST00000422605 | 4352 | 779 | 134084658 | 134084751 | 1354 | 1446 | 395 | 426 |
| ENST00000422605 | 4352 | 779 | 134077381 | 134077558 | 2272 | 2448 | 701 | 760 |
| 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 |
| Q9Y2J4 | 395 | 426 | 1 | 779 | Chain | ID=PRO_0000190672;Note=Angiomotin-like protein 2 |
| Q9Y2J4 | 395 | 426 | 308 | 581 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2J4 | 395 | 426 | 415 | 415 | Natural variant | ID=VAR_055499;Note=G->S;Dbxref=dbSNP:rs2241559 |
| Q9Y2J4 | 701 | 760 | 701 | 701 | Alternative sequence | ID=VSP_015711;Note=In isoform 2. T->TA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10231032,ECO:0000303|PubMed:14702039;Dbxref=PMID:10231032,PMID:14702039 |
| Q9Y2J4 | 701 | 760 | 1 | 779 | Chain | ID=PRO_0000190672;Note=Angiomotin-like protein 2 |
| Q9Y2J4 | 701 | 760 | 759 | 759 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q9Y2J4 | 701 | 760 | 731 | 731 | Natural variant | ID=VAR_023535;Note=E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10231032,ECO:0000269|PubMed:12406577,ECO:0000269|PubMed:14702039,ECO:0000269|Ref.3;Dbxref=dbSNP:rs1353776,PMID:10231032,PMID:12406577,PMID:14 |
| 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 |
| Q9Y2J4 | 395 | 426 | 1 | 779 | Chain | ID=PRO_0000190672;Note=Angiomotin-like protein 2 |
| Q9Y2J4 | 395 | 426 | 308 | 581 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2J4 | 395 | 426 | 415 | 415 | Natural variant | ID=VAR_055499;Note=G->S;Dbxref=dbSNP:rs2241559 |
| Q9Y2J4 | 701 | 760 | 701 | 701 | Alternative sequence | ID=VSP_015711;Note=In isoform 2. T->TA;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10231032,ECO:0000303|PubMed:14702039;Dbxref=PMID:10231032,PMID:14702039 |
| Q9Y2J4 | 701 | 760 | 1 | 779 | Chain | ID=PRO_0000190672;Note=Angiomotin-like protein 2 |
| Q9Y2J4 | 701 | 760 | 759 | 759 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q9Y2J4 | 701 | 760 | 731 | 731 | Natural variant | ID=VAR_023535;Note=E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10231032,ECO:0000269|PubMed:12406577,ECO:0000269|PubMed:14702039,ECO:0000269|Ref.3;Dbxref=dbSNP:rs1353776,PMID:10231032,PMID:12406577,PMID:14 |
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SNVs in the skipped exons for AMOTL2 |
| - 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-A39Y-01 | exon_skip_388761 | 134077382 | 134077558 | 134077462 | 134077462 | Frame_Shift_Del | G | - | p.P792fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_388762 | 134077382 | 134077561 | 134077462 | 134077462 | Frame_Shift_Del | G | - | p.P792fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_388761 | 134077382 | 134077558 | 134077462 | 134077462 | Frame_Shift_Del | G | - | p.P792fs |
| UCEC | TCGA-D1-A163-01 | exon_skip_388762 | 134077382 | 134077561 | 134077462 | 134077462 | Frame_Shift_Del | G | - | p.P792fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_388761 | 134077382 | 134077558 | 134077519 | 134077519 | Frame_Shift_Del | G | - | p.P773fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_388762 | 134077382 | 134077561 | 134077519 | 134077519 | Frame_Shift_Del | G | - | p.P773fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_388761 | 134077382 | 134077558 | 134077519 | 134077519 | Frame_Shift_Del | G | - | p.P773fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_388762 | 134077382 | 134077561 | 134077519 | 134077519 | Frame_Shift_Del | G | - | p.P773fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_388764 | 134084659 | 134084751 | 134084701 | 134084701 | Frame_Shift_Del | G | - | p.Q413fs |
| KIRC | TCGA-B0-5098-01 | exon_skip_388765 | 134086339 | 134086645 | 134086562 | 134086562 | Frame_Shift_Del | G | - | p.P333fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_388765 | 134086339 | 134086645 | 134086562 | 134086562 | Frame_Shift_Del | G | - | p.P273fs |
| STAD | TCGA-HU-A4H3-01 | exon_skip_388765 | 134086339 | 134086645 | 134086562 | 134086562 | Frame_Shift_Del | G | - | p.P331fs |
| BLCA | TCGA-DK-A1AC-01 | exon_skip_388761 | 134077382 | 134077558 | 134077396 | 134077397 | Frame_Shift_Ins | - | T | p.R814fs |
| BLCA | TCGA-DK-A1AC-01 | exon_skip_388762 | 134077382 | 134077561 | 134077396 | 134077397 | Frame_Shift_Ins | - | T | p.R814fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_388761 | 134077382 | 134077558 | 134077461 | 134077462 | Frame_Shift_Ins | - | G | p.P735fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_388761 | 134077382 | 134077558 | 134077461 | 134077462 | Frame_Shift_Ins | - | G | p.R792fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_388762 | 134077382 | 134077561 | 134077461 | 134077462 | Frame_Shift_Ins | - | G | p.P735fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_388762 | 134077382 | 134077561 | 134077461 | 134077462 | Frame_Shift_Ins | - | G | p.R792fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_388761 | 134077382 | 134077558 | 134077531 | 134077532 | Frame_Shift_Ins | - | C | p.H769fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_388762 | 134077382 | 134077561 | 134077531 | 134077532 | Frame_Shift_Ins | - | C | p.H769fs |
| LUSC | TCGA-39-5022-01 | exon_skip_388764 | 134084659 | 134084751 | 134084662 | 134084662 | Nonsense_Mutation | G | A | p.Q484* |
| SKCM | TCGA-EB-A431-01 | exon_skip_388764 | 134084659 | 134084751 | 134084701 | 134084701 | Nonsense_Mutation | G | A | p.Q413X |
| SKCM | TCGA-EB-A431-01 | exon_skip_388764 | 134084659 | 134084751 | 134084701 | 134084701 | Nonsense_Mutation | G | A | p.Q471* |
| - 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 | 134086339 | 134086645 | 134086607 | 134086609 | In_Frame_Del | TGT | - | p.257_258QQ>Q |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134077382 | 134077561 | 134077462 | 134077462 | Missense_Mutation | G | T | p.P734Q |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134077382 | 134077558 | 134077462 | 134077462 | Missense_Mutation | G | T | p.P734Q |
| DJM1_SKIN | 134077382 | 134077561 | 134077538 | 134077538 | Missense_Mutation | G | A | p.P709S |
| DJM1_SKIN | 134077382 | 134077558 | 134077538 | 134077538 | Missense_Mutation | G | A | p.P709S |
| HEMCSS_BONE | 134077382 | 134077561 | 134077538 | 134077538 | Missense_Mutation | G | A | p.P709S |
| HEMCSS_BONE | 134077382 | 134077558 | 134077538 | 134077538 | Missense_Mutation | G | A | p.P709S |
| OVISE_OVARY | 134077382 | 134077561 | 134077538 | 134077538 | Missense_Mutation | G | A | p.P709S |
| OVISE_OVARY | 134077382 | 134077558 | 134077538 | 134077538 | Missense_Mutation | G | A | p.P709S |
| KPNSI9S_AUTONOMIC_GANGLIA | 134084659 | 134084751 | 134084683 | 134084683 | Missense_Mutation | T | C | p.M419V |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134086339 | 134086645 | 134086391 | 134086391 | Missense_Mutation | C | T | p.R330Q |
| HT115_LARGE_INTESTINE | 134086339 | 134086645 | 134086415 | 134086415 | Missense_Mutation | G | A | p.A322V |
| HEC108_ENDOMETRIUM | 134086339 | 134086645 | 134086425 | 134086425 | Missense_Mutation | T | C | p.R319G |
| COLO792_SKIN | 134086339 | 134086645 | 134086475 | 134086475 | Missense_Mutation | G | A | p.S302F |
| HS695T_SKIN | 134086339 | 134086645 | 134086530 | 134086530 | Missense_Mutation | G | A | p.P284S |
| LS123_LARGE_INTESTINE | 134086339 | 134086645 | 134086535 | 134086535 | Missense_Mutation | T | C | p.H282R |
| HS281T_FIBROBLAST | 134086339 | 134086645 | 134086556 | 134086556 | Missense_Mutation | G | C | p.P275R |
| PCI38_UPPER_AERODIGESTIVE_TRACT | 134086339 | 134086645 | 134086623 | 134086623 | Missense_Mutation | G | T | p.P253T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AMOTL2 |
| 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 AMOTL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AMOTL2 |
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RelatedDrugs for AMOTL2 |
| 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 AMOTL2 |
| 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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