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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 LOXL4 |
 Gene summary |
| Gene information | Gene symbol | LOXL4 | Gene ID | 84171 |
| Gene name | lysyl oxidase like 4 | |
| Synonyms | LOXC | |
| Cytomap | 10q24.2 | |
| Type of gene | protein-coding | |
| Description | lysyl oxidase homolog 4lysyl oxidase related Clysyl oxidase-like 4 pseudogenelysyl oxidase-like protein 4lysyl oxidase-related protein C | |
| Modification date | 20180523 | |
| UniProtAcc | Q96JB6 | |
| Context | PubMed: LOXL4 [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 LOXL4 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 LOXL4 |
| 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 LOXL4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_52754 | 10 | 100012109:100012225:100013309:100013553:100015333:100015496 | 100013309:100013553 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52760 | 10 | 100013309:100013553:100015333:100015496:100016536:100016704 | 100015333:100015496 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52762 | 10 | 100015333:100015496:100016536:100016704:100017406:100017561 | 100016536:100016704 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52764 | 10 | 100017406:100017561:100017737:100017921:100018765:100018942 | 100017737:100017921 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52766 | 10 | 100018765:100018985:100019147:100019186:100020678:100020884 | 100019147:100019186 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52768 | 10 | 100019147:100019186:100020678:100020884:100021791:100021970 | 100020678:100020884 | ENSG00000138131.3 | ENST00000260702.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LOXL4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_52754 | 10 | 100012109:100012225:100013309:100013553:100015333:100015496 | 100013309:100013553 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52760 | 10 | 100013309:100013553:100015333:100015496:100016536:100016704 | 100015333:100015496 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52762 | 10 | 100015333:100015496:100016536:100016704:100017406:100017561 | 100016536:100016704 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52764 | 10 | 100017406:100017561:100017737:100017921:100018765:100018942 | 100017737:100017921 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52766 | 10 | 100018765:100018985:100019147:100019186:100020678:100020884 | 100019147:100019186 | ENSG00000138131.3 | ENST00000260702.3 |
| exon_skip_52768 | 10 | 100019147:100019186:100020678:100020884:100021791:100021970 | 100020678:100020884 | ENSG00000138131.3 | ENST00000260702.3 |
| 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 LOXL4 |
| 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 |
| ENST00000260702 | 100013309 | 100013553 | Frame-shift |
| ENST00000260702 | 100015333 | 100015496 | Frame-shift |
| ENST00000260702 | 100017737 | 100017921 | Frame-shift |
| ENST00000260702 | 100020678 | 100020884 | Frame-shift |
| ENST00000260702 | 100016536 | 100016704 | In-frame |
| ENST00000260702 | 100019147 | 100019186 | 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 |
| ENST00000260702 | 100013309 | 100013553 | Frame-shift |
| ENST00000260702 | 100015333 | 100015496 | Frame-shift |
| ENST00000260702 | 100017737 | 100017921 | Frame-shift |
| ENST00000260702 | 100020678 | 100020884 | Frame-shift |
| ENST00000260702 | 100016536 | 100016704 | In-frame |
| ENST00000260702 | 100019147 | 100019186 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LOXL4 |
| 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 |
| ENST00000260702 | 3670 | 756 | 100019147 | 100019186 | 814 | 852 | 221 | 233 |
| ENST00000260702 | 3670 | 756 | 100016536 | 100016704 | 1412 | 1579 | 420 | 476 |
| 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 |
| ENST00000260702 | 3670 | 756 | 100019147 | 100019186 | 814 | 852 | 221 | 233 |
| ENST00000260702 | 3670 | 756 | 100016536 | 100016704 | 1412 | 1579 | 420 | 476 |
| 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 |
| Q96JB6 | 221 | 233 | 25 | 756 | Chain | ID=PRO_0000018535;Note=Lysyl oxidase homolog 4 |
| Q96JB6 | 221 | 233 | 191 | 276 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 221 | 233 | 204 | 286 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 221 | 233 | 159 | 287 | Domain | Note=SRCR 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 420 | 476 | 25 | 756 | Chain | ID=PRO_0000018535;Note=Lysyl oxidase homolog 4 |
| Q96JB6 | 420 | 476 | 450 | 515 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 420 | 476 | 463 | 528 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 420 | 476 | 421 | 529 | Domain | Note=SRCR 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| 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 |
| Q96JB6 | 221 | 233 | 25 | 756 | Chain | ID=PRO_0000018535;Note=Lysyl oxidase homolog 4 |
| Q96JB6 | 221 | 233 | 191 | 276 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 221 | 233 | 204 | 286 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 221 | 233 | 159 | 287 | Domain | Note=SRCR 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 420 | 476 | 25 | 756 | Chain | ID=PRO_0000018535;Note=Lysyl oxidase homolog 4 |
| Q96JB6 | 420 | 476 | 450 | 515 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 420 | 476 | 463 | 528 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
| Q96JB6 | 420 | 476 | 421 | 529 | Domain | Note=SRCR 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00196 |
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SNVs in the skipped exons for LOXL4 |
| - 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 |
| PCPG | TCGA-WB-A815-01 | exon_skip_52760 | 100015334 | 100015496 | 100015403 | 100015403 | Frame_Shift_Del | G | - | p.Q508fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_52760 | 100015334 | 100015496 | 100015415 | 100015415 | Frame_Shift_Del | G | - | p.L504fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_52762 | 100016537 | 100016704 | 100016624 | 100016624 | Frame_Shift_Del | C | - | p.G447fs |
| BLCA | TCGA-DK-A6B2-01 | exon_skip_52766 | 100019148 | 100019186 | 100019161 | 100019161 | Frame_Shift_Del | C | - | p.D230fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_52768 | 100020679 | 100020884 | 100020711 | 100020711 | Frame_Shift_Del | G | - | p.P210fs |
| STAD | TCGA-HJ-7597-01 | exon_skip_52762 | 100016537 | 100016704 | 100016575 | 100016575 | Nonsense_Mutation | G | A | p.R464* |
| STAD | TCGA-HJ-7597-01 | exon_skip_52762 | 100016537 | 100016704 | 100016575 | 100016575 | Nonsense_Mutation | G | A | p.R464X |
| - 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 |
| MZ7B_MATCHED_NORMAL_TISSUE | 100013310 | 100013553 | 100013359 | 100013362 | Frame_Shift_Del | AGTC | - | p.DF595fs |
| MZ7MEL_SKIN | 100013310 | 100013553 | 100013359 | 100013362 | Frame_Shift_Del | AGTC | - | p.DF595fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100015334 | 100015496 | 100015364 | 100015364 | Frame_Shift_Del | G | - | p.R521fs |
| HEC6_ENDOMETRIUM | 100017738 | 100017921 | 100017845 | 100017845 | Frame_Shift_Del | C | - | p.G333fs |
| KYSE30_OESOPHAGUS | 100013310 | 100013553 | 100013434 | 100013434 | Missense_Mutation | G | A | p.H571Y |
| CORL24_LUNG | 100013310 | 100013553 | 100013548 | 100013548 | Missense_Mutation | G | C | p.P533A |
| SNU1_STOMACH | 100015334 | 100015496 | 100015450 | 100015450 | Missense_Mutation | A | G | p.M492T |
| IGROV1_OVARY | 100015334 | 100015496 | 100015472 | 100015472 | Missense_Mutation | G | A | p.P485S |
| WM793_SKIN | 100015334 | 100015496 | 100015478 | 100015478 | Missense_Mutation | C | T | p.G483R |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 100016537 | 100016704 | 100016566 | 100016566 | Missense_Mutation | C | T | p.G467S |
| MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100016537 | 100016704 | 100016590 | 100016590 | Missense_Mutation | C | A | p.A459S |
| NCIH1048_LUNG | 100016537 | 100016704 | 100016631 | 100016631 | Missense_Mutation | C | T | p.R445H |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100016537 | 100016704 | 100016646 | 100016646 | Missense_Mutation | A | C | p.V440G |
| NCIH716_LARGE_INTESTINE | 100017738 | 100017921 | 100017768 | 100017768 | Missense_Mutation | C | G | p.E359Q |
| SW1271_LUNG | 100017738 | 100017921 | 100017830 | 100017830 | Missense_Mutation | T | C | p.H338R |
| NCIH2052_PLEURA | 100017738 | 100017921 | 100017897 | 100017897 | Missense_Mutation | C | T | p.G316R |
| NCIBL2052_MATCHED_NORMAL_TISSUE | 100017738 | 100017921 | 100017897 | 100017897 | Missense_Mutation | C | T | p.G316R |
| 22RV1_PROSTATE | 100020679 | 100020884 | 100020778 | 100020778 | Missense_Mutation | C | T | p.R188Q |
| MEWO_SKIN | 100020679 | 100020884 | 100020803 | 100020803 | Missense_Mutation | C | T | p.E180K |
| CAL851_BREAST | 100020679 | 100020884 | 100020806 | 100020806 | Missense_Mutation | C | T | p.V179M |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100020679 | 100020884 | 100020862 | 100020862 | Missense_Mutation | C | T | p.R160Q |
| HCT15_LARGE_INTESTINE | 100020679 | 100020884 | 100020867 | 100020867 | Missense_Mutation | C | A | p.E158D |
| HEC1A_ENDOMETRIUM | 100016537 | 100016704 | 100016576 | 100016576 | Nonsense_Mutation | G | T | p.C463* |
| HCC2998_LARGE_INTESTINE | 100020679 | 100020884 | 100020681 | 100020681 | Nonsense_Mutation | G | T | p.Y220* |
| SNU349_KIDNEY | 100015334 | 100015496 | 100015335 | 100015335 | Splice_Site | G | A | p.D530D |
| VAESBJ_SOFT_TISSUE | 100016537 | 100016704 | 100016537 | 100016537 | Splice_Site | C | T | p.K476K |
| SH4_SKIN | 100019148 | 100019186 | 100019185 | 100019185 | Splice_Site | T | C | p.K222E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LOXL4 |
| 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 LOXL4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LOXL4 |
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RelatedDrugs for LOXL4 |
| 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 LOXL4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LOXL4 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
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