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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 AMOT |
 Gene summary |
| Gene information | Gene symbol | AMOT | Gene ID | 154796 |
| Gene name | angiomotin | |
| Synonyms | - | |
| Cytomap | Xq23 | |
| Type of gene | protein-coding | |
| Description | angiomotinangiomotin p130 isoformangiomotin p80 isoform | |
| Modification date | 20180523 | |
| UniProtAcc | Q4VCS5 | |
| Context | PubMed: AMOT [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 |
| AMOT | GO:0016525 | negative regulation of angiogenesis | 11257124 |
| AMOT | GO:0030334 | regulation of cell migration | 11257124 |
| AMOT | GO:0034613 | cellular protein localization | 21205866 |
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Exon skipping events across known transcript of Ensembl for AMOT 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 AMOT |
| 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 AMOT |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516437 | X | 112024113:112024346:112025767:112025890:112033819:112034010 | 112025767:112025890 | ENSG00000126016.9 | ENST00000371959.3,ENST00000524145.1,ENST00000371962.1,ENST00000304758.1,ENST00000371958.1 |
| exon_skip_516438 | X | 112058585:112059105:112065482:112066372:112068299:112068356 | 112065482:112066372 | ENSG00000126016.9 | ENST00000524145.1 |
| exon_skip_516441 | X | 112066364:112066416:112068299:112068448:112075521:112075598 | 112068299:112068448 | ENSG00000126016.9 | ENST00000462114.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AMOT |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516437 | X | 112024113:112024346:112025767:112025890:112033819:112034010 | 112025767:112025890 | ENSG00000126016.9 | ENST00000304758.1,ENST00000371959.3,ENST00000371962.1,ENST00000524145.1,ENST00000371958.1 |
| exon_skip_516438 | X | 112058585:112059105:112065482:112066372:112068299:112068356 | 112065482:112066372 | ENSG00000126016.9 | ENST00000524145.1 |
| exon_skip_516441 | X | 112066364:112066416:112068299:112068448:112075521:112075598 | 112068299:112068448 | ENSG00000126016.9 | ENST00000462114.1 |
| 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 AMOT |
| 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 |
| ENST00000524145 | 112065482 | 112066372 | 3UTR-3CDS |
| ENST00000371959 | 112025767 | 112025890 | In-frame |
| ENST00000524145 | 112025767 | 112025890 | 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 |
| ENST00000524145 | 112065482 | 112066372 | 3UTR-3CDS |
| ENST00000371959 | 112025767 | 112025890 | In-frame |
| ENST00000524145 | 112025767 | 112025890 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AMOT |
| 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 |
| ENST00000371959 | 6962 | 1084 | 112025767 | 112025890 | 2118 | 2240 | 706 | 746 |
| ENST00000524145 | 3347 | 1084 | 112025767 | 112025890 | 2193 | 2315 | 706 | 746 |
| 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 |
| ENST00000371959 | 6962 | 1084 | 112025767 | 112025890 | 2118 | 2240 | 706 | 746 |
| ENST00000524145 | 3347 | 1084 | 112025767 | 112025890 | 2193 | 2315 | 706 | 746 |
| 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 |
| Q4VCS5 | 706 | 746 | 1 | 1084 | Chain | ID=PRO_0000190668;Note=Angiomotin |
| Q4VCS5 | 706 | 746 | 1 | 1084 | Chain | ID=PRO_0000190668;Note=Angiomotin |
| Q4VCS5 | 706 | 746 | 721 | 751 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q4VCS5 | 706 | 746 | 721 | 751 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q4VCS5 | 706 | 746 | 714 | 714 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VHG2 |
| Q4VCS5 | 706 | 746 | 714 | 714 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VHG2 |
| 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 |
| Q4VCS5 | 706 | 746 | 1 | 1084 | Chain | ID=PRO_0000190668;Note=Angiomotin |
| Q4VCS5 | 706 | 746 | 1 | 1084 | Chain | ID=PRO_0000190668;Note=Angiomotin |
| Q4VCS5 | 706 | 746 | 721 | 751 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q4VCS5 | 706 | 746 | 721 | 751 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q4VCS5 | 706 | 746 | 714 | 714 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VHG2 |
| Q4VCS5 | 706 | 746 | 714 | 714 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8VHG2 |
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SNVs in the skipped exons for AMOT |
| - 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 |
| COAD | TCGA-CM-6162-01 | exon_skip_516438 | 112065483 | 112066372 | 112065639 | 112065639 | Frame_Shift_Del | G | - | p.P239fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_516438 | 112065483 | 112066372 | 112065639 | 112065639 | Frame_Shift_Del | G | - | p.P240fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516438 | 112065483 | 112066372 | 112065639 | 112065639 | Frame_Shift_Del | G | - | p.P240fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516438 | 112065483 | 112066372 | 112065660 | 112065660 | Frame_Shift_Del | C | - | p.G232fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_516438 | 112065483 | 112066372 | 112066109 | 112066109 | Frame_Shift_Del | C | - | p.G82fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516438 | 112065483 | 112066372 | 112066109 | 112066109 | Frame_Shift_Del | C | - | p.G82fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_516438 | 112065483 | 112066372 | 112065500 | 112065501 | Frame_Shift_Ins | - | G | p.P285fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_516438 | 112065483 | 112066372 | 112066217 | 112066218 | Frame_Shift_Ins | - | G | p.P46fs |
| KIRP | TCGA-5P-A9JU-01 | exon_skip_516438 | 112065483 | 112066372 | 112065566 | 112065566 | Nonsense_Mutation | A | T | p.Y263X |
| UCEC | TCGA-D1-A163-01 | exon_skip_516438 | 112065483 | 112066372 | 112065826 | 112065826 | Nonsense_Mutation | G | A | p.R177* |
| CESC | TCGA-DG-A2KK-01 | exon_skip_516438 | 112065483 | 112066372 | 112066006 | 112066006 | Nonsense_Mutation | G | A | p.Q117* |
| COAD | TCGA-CK-5915-01 | exon_skip_516438 | 112065483 | 112066372 | 112066060 | 112066060 | Nonsense_Mutation | G | A | p.R99X |
| UCEC | TCGA-B5-A11E-01 | exon_skip_516438 | 112065483 | 112066372 | 112066060 | 112066060 | Nonsense_Mutation | G | A | p.R99* |
| UCEC | TCGA-D1-A176-01 | exon_skip_516437 | 112025768 | 112025890 | 112025891 | 112025891 | Splice_Site | C | A | p.R706_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 |
| SNU407_LARGE_INTESTINE | 112065483 | 112066372 | 112065639 | 112065639 | Frame_Shift_Del | G | - | p.P240fs |
| LIM1215_LARGE_INTESTINE | 112065483 | 112066372 | 112065639 | 112065639 | Frame_Shift_Del | G | - | p.P240fs |
| HPAFII_PANCREAS | 112025768 | 112025890 | 112025789 | 112025789 | Missense_Mutation | C | T | p.R740H |
| SNU175_LARGE_INTESTINE | 112025768 | 112025890 | 112025790 | 112025790 | Missense_Mutation | G | A | p.R740C |
| NCIH2887_LUNG | 112025768 | 112025890 | 112025819 | 112025819 | Missense_Mutation | T | A | p.E730V |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 112025768 | 112025890 | 112025831 | 112025831 | Missense_Mutation | C | T | p.R726H |
| GMS10_CENTRAL_NERVOUS_SYSTEM | 112025768 | 112025890 | 112025883 | 112025883 | Missense_Mutation | T | C | p.T709A |
| KYSE510_OESOPHAGUS | 112065483 | 112066372 | 112065505 | 112065505 | Missense_Mutation | G | A | p.P284S |
| 8305C_THYROID | 112065483 | 112066372 | 112065557 | 112065557 | Missense_Mutation | A | C | p.H266Q |
| MFHINO_SOFT_TISSUE | 112065483 | 112066372 | 112065574 | 112065574 | Missense_Mutation | G | T | p.H261N |
| HCC1438_LUNG | 112065483 | 112066372 | 112065576 | 112065576 | Missense_Mutation | C | A | p.G260V |
| MDAPCA2B_PROSTATE | 112065483 | 112066372 | 112065576 | 112065576 | Missense_Mutation | C | T | p.G260E |
| ES2_OVARY | 112065483 | 112066372 | 112065579 | 112065579 | Missense_Mutation | G | T | p.P259Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 112065483 | 112066372 | 112065589 | 112065589 | Missense_Mutation | G | A | p.P256S |
| NCIH1651_LUNG | 112065483 | 112066372 | 112065609 | 112065609 | Missense_Mutation | G | A | p.P249L |
| SLR20_KIDNEY | 112065483 | 112066372 | 112065711 | 112065711 | Missense_Mutation | C | A | p.S215I |
| A498_KIDNEY | 112065483 | 112066372 | 112065739 | 112065739 | Missense_Mutation | C | T | p.D206N |
| HSC2_UPPER_AERODIGESTIVE_TRACT | 112065483 | 112066372 | 112065739 | 112065739 | Missense_Mutation | C | T | p.D206N |
| NCIH2135_LUNG | 112065483 | 112066372 | 112065864 | 112065864 | Missense_Mutation | C | G | p.R164T |
| LN428_CENTRAL_NERVOUS_SYSTEM | 112065483 | 112066372 | 112065883 | 112065883 | Missense_Mutation | G | A | p.H158Y |
| SNU81_LARGE_INTESTINE | 112065483 | 112066372 | 112065907 | 112065907 | Missense_Mutation | G | T | p.Q150K |
| ESS1_ENDOMETRIUM | 112065483 | 112066372 | 112065997 | 112065997 | Missense_Mutation | G | A | p.R120W |
| LN18_CENTRAL_NERVOUS_SYSTEM | 112065483 | 112066372 | 112066162 | 112066162 | Missense_Mutation | G | T | p.Q65K |
| A253_SALIVARY_GLAND | 112065483 | 112066372 | 112066169 | 112066169 | Missense_Mutation | C | A | p.L62F |
| NCIH1417_LUNG | 112065483 | 112066372 | 112066177 | 112066177 | Missense_Mutation | C | G | p.D60H |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112065483 | 112066372 | 112066284 | 112066284 | Missense_Mutation | C | T | p.R24H |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112065483 | 112066372 | 112066300 | 112066300 | Missense_Mutation | G | C | p.L19V |
| OMC1_CERVIX | 112065483 | 112066372 | 112066326 | 112066326 | Missense_Mutation | C | A | p.G10V |
| SNU81_LARGE_INTESTINE | 112065483 | 112066372 | 112065583 | 112065583 | Nonsense_Mutation | C | A | p.E258* |
| CORL95_LUNG | 112025768 | 112025890 | 112025889 | 112025889 | Splice_Site | C | G | p.D707H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 112025768 | 112025890 | 112025890 | 112025890 | Splice_Site | C | T | p.R706R |
| HS618T_FIBROBLAST | 112065483 | 112066372 | 112066354 | 112066354 | Start_Codon_SNP | T | C | p.M1V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AMOT |
| 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 AMOT |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AMOT |
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RelatedDrugs for AMOT |
| 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 AMOT |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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