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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 AXL |
 Gene summary |
| Gene information | Gene symbol | AXL | Gene ID | 558 |
| Gene name | AXL receptor tyrosine kinase | |
| Synonyms | ARK|JTK11|Tyro7|UFO | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | tyrosine-protein kinase receptor UFOAXL oncogeneAXL transforming sequence/gene | |
| Modification date | 20180527 | |
| UniProtAcc | P30530 | |
| Context | PubMed: AXL [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 |
| AXL | GO:0001961 | positive regulation of cytokine-mediated signaling pathway | 18840707 |
| AXL | GO:0006909 | phagocytosis | 21501828 |
| AXL | GO:0032689 | negative regulation of interferon-gamma production | 18840707 |
| AXL | GO:0032825 | positive regulation of natural killer cell differentiation | 18840707 |
| AXL | GO:0035457 | cellular response to interferon-alpha | 19657094 |
| AXL | GO:0071222 | cellular response to lipopolysaccharide | 19657094 |
| AXL | GO:2000669 | negative regulation of dendritic cell apoptotic process | 19657094 |
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Exon skipping events across known transcript of Ensembl for AXL 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 AXL |
| 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 AXL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307467 | 19 | 41726540:41726763:41727050:41727151:41727784:41727901 | 41727050:41727151 | ENSG00000167601.7 | ENST00000359092.3,ENST00000599659.1,ENST00000594880.1,ENST00000301178.4 |
| exon_skip_307468 | 19 | 41727784:41727961:41736871:41736952:41737087:41737203 | 41736871:41736952 | ENSG00000167601.7 | ENST00000359092.3,ENST00000599659.1,ENST00000301178.4 |
| exon_skip_307470 | 19 | 41743848:41744059:41744374:41744514:41745068:41745219 | 41744374:41744514 | ENSG00000167601.7 | ENST00000593513.1,ENST00000359092.3,ENST00000599659.1,ENST00000301178.4 |
| exon_skip_307471 | 19 | 41745068:41745219:41745598:41745625:41748787:41748920 | 41745598:41745625 | ENSG00000167601.7 | ENST00000593513.1,ENST00000599659.1,ENST00000301178.4 |
| exon_skip_307474 | 19 | 41748787:41748920:41749520:41749612:41754418:41754514 | 41749520:41749612 | ENSG00000167601.7 | ENST00000593513.1,ENST00000359092.3,ENST00000301178.4 |
| exon_skip_307477 | 19 | 41754418:41754514:41754647:41754725:41758255:41758348 | 41754647:41754725 | ENSG00000167601.7 | ENST00000593513.1,ENST00000359092.3,ENST00000301178.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AXL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_307467 | 19 | 41726540:41726763:41727050:41727151:41727784:41727901 | 41727050:41727151 | ENSG00000167601.7 | ENST00000301178.4,ENST00000359092.3,ENST00000599659.1,ENST00000594880.1 |
| exon_skip_307468 | 19 | 41727784:41727961:41736871:41736952:41737087:41737203 | 41736871:41736952 | ENSG00000167601.7 | ENST00000301178.4,ENST00000359092.3,ENST00000599659.1 |
| exon_skip_307470 | 19 | 41743848:41744059:41744374:41744514:41745068:41745219 | 41744374:41744514 | ENSG00000167601.7 | ENST00000301178.4,ENST00000359092.3,ENST00000599659.1,ENST00000593513.1 |
| exon_skip_307471 | 19 | 41745068:41745219:41745598:41745625:41748787:41748920 | 41745598:41745625 | ENSG00000167601.7 | ENST00000301178.4,ENST00000599659.1,ENST00000593513.1 |
| exon_skip_307474 | 19 | 41748787:41748920:41749520:41749612:41754418:41754514 | 41749520:41749612 | ENSG00000167601.7 | ENST00000301178.4,ENST00000359092.3,ENST00000593513.1 |
| exon_skip_307477 | 19 | 41754418:41754514:41754647:41754725:41758255:41758348 | 41754647:41754725 | ENSG00000167601.7 | ENST00000301178.4,ENST00000359092.3,ENST00000593513.1 |
| 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 AXL |
| 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 |
| ENST00000301178 | 41727050 | 41727151 | Frame-shift |
| ENST00000301178 | 41744374 | 41744514 | Frame-shift |
| ENST00000301178 | 41749520 | 41749612 | Frame-shift |
| ENST00000301178 | 41736871 | 41736952 | In-frame |
| ENST00000301178 | 41745598 | 41745625 | In-frame |
| ENST00000301178 | 41754647 | 41754725 | 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 |
| ENST00000301178 | 41727050 | 41727151 | Frame-shift |
| ENST00000301178 | 41744374 | 41744514 | Frame-shift |
| ENST00000301178 | 41749520 | 41749612 | Frame-shift |
| ENST00000301178 | 41736871 | 41736952 | In-frame |
| ENST00000301178 | 41745598 | 41745625 | In-frame |
| ENST00000301178 | 41754647 | 41754725 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AXL |
| 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 |
| ENST00000301178 | 4754 | 894 | 41736871 | 41736952 | 777 | 857 | 195 | 222 |
| ENST00000301178 | 4754 | 894 | 41754647 | 41754725 | 1824 | 1901 | 544 | 570 |
| 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 |
| ENST00000301178 | 4754 | 894 | 41736871 | 41736952 | 777 | 857 | 195 | 222 |
| ENST00000301178 | 4754 | 894 | 41754647 | 41754725 | 1824 | 1901 | 544 | 570 |
| 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 |
| P30530 | 195 | 222 | 201 | 209 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA0 |
| P30530 | 195 | 222 | 212 | 215 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA0 |
| P30530 | 195 | 222 | 219 | 223 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA0 |
| P30530 | 195 | 222 | 26 | 894 | Chain | ID=PRO_0000024481;Note=Tyrosine-protein kinase receptor UFO |
| P30530 | 195 | 222 | 160 | 205 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| P30530 | 195 | 222 | 139 | 222 | Domain | Note=Ig-like C2-type 2 |
| P30530 | 195 | 222 | 198 | 198 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P30530 | 195 | 222 | 26 | 451 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P30530 | 544 | 570 | 536 | 544 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6B |
| P30530 | 544 | 570 | 546 | 556 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6B |
| P30530 | 544 | 570 | 558 | 571 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6B |
| P30530 | 544 | 570 | 567 | 567 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P30530 | 544 | 570 | 26 | 894 | Chain | ID=PRO_0000024481;Note=Tyrosine-protein kinase receptor UFO |
| P30530 | 544 | 570 | 536 | 807 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P30530 | 544 | 570 | 542 | 550 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P30530 | 544 | 570 | 473 | 894 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P30530 | 195 | 222 | 201 | 209 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA0 |
| P30530 | 195 | 222 | 212 | 215 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA0 |
| P30530 | 195 | 222 | 219 | 223 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RA0 |
| P30530 | 195 | 222 | 26 | 894 | Chain | ID=PRO_0000024481;Note=Tyrosine-protein kinase receptor UFO |
| P30530 | 195 | 222 | 160 | 205 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| P30530 | 195 | 222 | 139 | 222 | Domain | Note=Ig-like C2-type 2 |
| P30530 | 195 | 222 | 198 | 198 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P30530 | 195 | 222 | 26 | 451 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P30530 | 544 | 570 | 536 | 544 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6B |
| P30530 | 544 | 570 | 546 | 556 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6B |
| P30530 | 544 | 570 | 558 | 571 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U6B |
| P30530 | 544 | 570 | 567 | 567 | Binding site | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P30530 | 544 | 570 | 26 | 894 | Chain | ID=PRO_0000024481;Note=Tyrosine-protein kinase receptor UFO |
| P30530 | 544 | 570 | 536 | 807 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P30530 | 544 | 570 | 542 | 550 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P30530 | 544 | 570 | 473 | 894 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for AXL |
| - 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_307467 | 41727051 | 41727151 | 41727093 | 41727093 | Frame_Shift_Del | T | - | p.C117fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_307470 | 41744375 | 41744514 | 41744377 | 41744377 | Frame_Shift_Del | C | - | p.P333fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_307470 | 41744375 | 41744514 | 41744377 | 41744377 | Frame_Shift_Del | C | - | p.P333fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_307470 | 41744375 | 41744514 | 41744385 | 41744385 | Frame_Shift_Del | C | - | p.G335fs |
| STAD | TCGA-BR-6452-01 | exon_skip_307470 | 41744375 | 41744514 | 41744385 | 41744385 | Frame_Shift_Del | C | - | p.G335fs |
| STAD | TCGA-CG-5723-01 | exon_skip_307470 | 41744375 | 41744514 | 41744385 | 41744385 | Frame_Shift_Del | C | - | p.G335fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_307470 | 41744375 | 41744514 | 41744446 | 41744446 | Frame_Shift_Del | C | - | p.P356fs |
| COAD | TCGA-A6-6141-01 | exon_skip_307474 | 41749521 | 41749612 | 41749522 | 41749522 | Nonsense_Mutation | G | T | p.E483X |
| - 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 |
| HCT116_LARGE_INTESTINE | 41744375 | 41744514 | 41744385 | 41744385 | Frame_Shift_Del | C | - | p.G335fs |
| KM12_LARGE_INTESTINE | 41744375 | 41744514 | 41744385 | 41744385 | Frame_Shift_Del | C | - | p.G335fs |
| TCYIK_CERVIX | 41727051 | 41727151 | 41727059 | 41727059 | Missense_Mutation | C | T | p.S106F |
| SKPNDW_BONE | 41744375 | 41744514 | 41744394 | 41744394 | Missense_Mutation | G | T | p.E338D |
| COGAR359_SOFT_TISSUE | 41744375 | 41744514 | 41744410 | 41744410 | Missense_Mutation | C | T | p.R344W |
| KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41744375 | 41744514 | 41744410 | 41744410 | Missense_Mutation | C | T | p.R344W |
| CW2_LARGE_INTESTINE | 41744375 | 41744514 | 41744431 | 41744431 | Missense_Mutation | G | A | p.V351M |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41744375 | 41744514 | 41744473 | 41744473 | Missense_Mutation | T | A | p.L365I |
| OAW42_OVARY | 41744375 | 41744514 | 41744482 | 41744482 | Missense_Mutation | C | T | p.R368W |
| SNU175_LARGE_INTESTINE | 41745599 | 41745625 | 41745604 | 41745604 | Missense_Mutation | G | A | p.A431T |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41749521 | 41749612 | 41749576 | 41749576 | Missense_Mutation | C | T | p.R501C |
| SNU1040_LARGE_INTESTINE | 41749521 | 41749612 | 41749577 | 41749577 | Missense_Mutation | G | A | p.R501H |
| KMBC2_URINARY_TRACT | 41749521 | 41749612 | 41749603 | 41749603 | Missense_Mutation | G | A | p.E510K |
| NCIH630_LARGE_INTESTINE | 41754648 | 41754725 | 41754704 | 41754704 | Missense_Mutation | G | A | p.V564M |
| NCIH1876_LUNG | 41754648 | 41754725 | 41754711 | 41754711 | Missense_Mutation | T | C | p.V566A |
| MERO95_LUNG | 41754648 | 41754725 | 41754717 | 41754717 | Missense_Mutation | C | T | p.T568M |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 41754648 | 41754725 | 41754724 | 41754724 | Splice_Site | G | A | p.K570K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AXL |
| 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 AXL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AXL |
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RelatedDrugs for AXL |
| 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 |
| P30530 | DB12010 | Fostamatinib | Tyrosine-protein kinase receptor UFO | small molecule | approved|investigational |
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RelatedDiseases for AXL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AXL | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| AXL | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| AXL | C0022665 | Kidney Neoplasm | 1 | CTD_human |
| AXL | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| AXL | C0027809 | Neurilemmoma | 1 | CTD_human |
| AXL | C0206728 | Plexiform Neurofibroma | 1 | CTD_human |
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