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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 ADAMTSL4 |
 Gene summary |
| Gene information | Gene symbol | ADAMTSL4 | Gene ID | 54507 |
| Gene name | ADAMTS like 4 | |
| Synonyms | ADAMTSL-4|ECTOL2|TSRC1 | |
| Cytomap | 1q21.2 | |
| Type of gene | protein-coding | |
| Description | ADAMTS-like protein 4thrombospondin repeat-containing protein 1 | |
| Modification date | 20180527 | |
| UniProtAcc | Q6UY14 | |
| Context | PubMed: ADAMTSL4 [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 |
| ADAMTSL4 | GO:0043065 | positive regulation of apoptotic process | 16364318 |
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Exon skipping events across known transcript of Ensembl for ADAMTSL4 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 ADAMTSL4 |
| 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 ADAMTSL4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9861 | 1 | 150526840:150526943:150527041:150527110:150527904:150528041 | 150527041:150527110 | ENSG00000143382.9 | ENST00000369039.5 |
| exon_skip_9863 | 1 | 150528672:150528842:150529096:150529269:150529414:150529526 | 150529096:150529269 | ENSG00000143382.9 | ENST00000271643.4,ENST00000369038.2,ENST00000369039.5,ENST00000369041.5 |
| exon_skip_9867 | 1 | 150529625:150529811:150529969:150530099:150530420:150530625 | 150529969:150530099 | ENSG00000143382.9 | ENST00000271643.4,ENST00000369038.2,ENST00000369039.5,ENST00000369041.5 |
| exon_skip_9868 | 1 | 150529969:150530099:150530420:150530625:150530948:150531125 | 150530420:150530625 | ENSG00000143382.9 | ENST00000271643.4,ENST00000369038.2,ENST00000369039.5,ENST00000369041.5 |
| exon_skip_9873 | 1 | 150530420:150530625:150530948:150531125:150531437:150531641 | 150530948:150531125 | ENSG00000143382.9 | ENST00000271643.4,ENST00000369038.2,ENST00000369039.5 |
| exon_skip_9874 | 1 | 150531762:150531942:150532236:150532381:150532535:150533143 | 150532236:150532381 | ENSG00000143382.9 | ENST00000271643.4,ENST00000369038.2,ENST00000489159.1,ENST00000369039.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ADAMTSL4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9861 | 1 | 150526840:150526943:150527041:150527110:150527904:150528041 | 150527041:150527110 | ENSG00000143382.9 | ENST00000369039.5 |
| exon_skip_9863 | 1 | 150528672:150528842:150529096:150529269:150529414:150529526 | 150529096:150529269 | ENSG00000143382.9 | ENST00000369041.5,ENST00000271643.4,ENST00000369039.5,ENST00000369038.2 |
| exon_skip_9867 | 1 | 150529625:150529811:150529969:150530099:150530420:150530625 | 150529969:150530099 | ENSG00000143382.9 | ENST00000369041.5,ENST00000271643.4,ENST00000369039.5,ENST00000369038.2 |
| exon_skip_9868 | 1 | 150529969:150530099:150530420:150530625:150530948:150531125 | 150530420:150530625 | ENSG00000143382.9 | ENST00000369041.5,ENST00000271643.4,ENST00000369039.5,ENST00000369038.2 |
| exon_skip_9873 | 1 | 150530420:150530625:150530948:150531125:150531437:150531641 | 150530948:150531125 | ENSG00000143382.9 | ENST00000271643.4,ENST00000369039.5,ENST00000369038.2 |
| exon_skip_9874 | 1 | 150531762:150531942:150532236:150532381:150532535:150533143 | 150532236:150532381 | ENSG00000143382.9 | ENST00000271643.4,ENST00000369039.5,ENST00000369038.2,ENST00000489159.1 |
| 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 ADAMTSL4 |
| 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 |
| ENST00000271643 | 150529096 | 150529269 | Frame-shift |
| ENST00000369038 | 150529096 | 150529269 | Frame-shift |
| ENST00000271643 | 150529969 | 150530099 | Frame-shift |
| ENST00000369038 | 150529969 | 150530099 | Frame-shift |
| ENST00000271643 | 150530420 | 150530625 | Frame-shift |
| ENST00000369038 | 150530420 | 150530625 | Frame-shift |
| ENST00000271643 | 150532236 | 150532381 | Frame-shift |
| ENST00000369038 | 150532236 | 150532381 | Frame-shift |
| ENST00000271643 | 150530948 | 150531125 | In-frame |
| ENST00000369038 | 150530948 | 150531125 | 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 |
| ENST00000271643 | 150529096 | 150529269 | Frame-shift |
| ENST00000369038 | 150529096 | 150529269 | Frame-shift |
| ENST00000271643 | 150529969 | 150530099 | Frame-shift |
| ENST00000369038 | 150529969 | 150530099 | Frame-shift |
| ENST00000271643 | 150530420 | 150530625 | Frame-shift |
| ENST00000369038 | 150530420 | 150530625 | Frame-shift |
| ENST00000271643 | 150532236 | 150532381 | Frame-shift |
| ENST00000369038 | 150532236 | 150532381 | Frame-shift |
| ENST00000271643 | 150530948 | 150531125 | In-frame |
| ENST00000369038 | 150530948 | 150531125 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ADAMTSL4 |
| 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 |
| ENST00000271643 | 4214 | 1074 | 150530948 | 150531125 | 2619 | 2795 | 794 | 853 |
| ENST00000369038 | 4184 | 1074 | 150530948 | 150531125 | 2584 | 2760 | 794 | 853 |
| 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 |
| ENST00000271643 | 4214 | 1074 | 150530948 | 150531125 | 2619 | 2795 | 794 | 853 |
| ENST00000369038 | 4184 | 1074 | 150530948 | 150531125 | 2584 | 2760 | 794 | 853 |
| 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 |
| Q6UY14 | 794 | 853 | 25 | 1074 | Chain | ID=PRO_0000257966;Note=ADAMTS-like protein 4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UY14 | 794 | 853 | 25 | 1074 | Chain | ID=PRO_0000257966;Note=ADAMTS-like protein 4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UY14 | 794 | 853 | 783 | 842 | Domain | Note=TSP type-1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| Q6UY14 | 794 | 853 | 783 | 842 | Domain | Note=TSP type-1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| Q6UY14 | 794 | 853 | 845 | 909 | Domain | Note=TSP type-1 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| Q6UY14 | 794 | 853 | 845 | 909 | Domain | Note=TSP type-1 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| 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 |
| Q6UY14 | 794 | 853 | 25 | 1074 | Chain | ID=PRO_0000257966;Note=ADAMTS-like protein 4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UY14 | 794 | 853 | 25 | 1074 | Chain | ID=PRO_0000257966;Note=ADAMTS-like protein 4;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UY14 | 794 | 853 | 783 | 842 | Domain | Note=TSP type-1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| Q6UY14 | 794 | 853 | 783 | 842 | Domain | Note=TSP type-1 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| Q6UY14 | 794 | 853 | 845 | 909 | Domain | Note=TSP type-1 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| Q6UY14 | 794 | 853 | 845 | 909 | Domain | Note=TSP type-1 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
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SNVs in the skipped exons for ADAMTSL4 |
| - 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_9863 | 150529097 | 150529269 | 150529111 | 150529111 | Frame_Shift_Del | G | - | p.G532fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_9863 | 150529097 | 150529269 | 150529166 | 150529166 | Frame_Shift_Del | G | - | p.R549fs |
| ACC | TCGA-OR-A5J5-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.F754fs |
| ACC | TCGA-OR-A5J5-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.G758fs |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.F754fs |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.G758fs |
| BLCA | TCGA-FD-A3B7-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.G755fs |
| COAD | TCGA-AA-3713-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.F754fs |
| COAD | TCGA-AD-6889-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.F754fs |
| COAD | TCGA-AU-6004-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.F754fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.F754fs |
| COAD | TCGA-G4-6320-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.F754fs |
| COAD | TCGA-G4-6586-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.F754fs |
| LGG | TCGA-HT-7601-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.G758fs |
| UCEC | TCGA-AP-A0LD-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.G778fs |
| UCEC | TCGA-BG-A18B-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530506 | Frame_Shift_Del | G | - | p.G778fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_9873 | 150530949 | 150531125 | 150530968 | 150530968 | Frame_Shift_Del | G | - | p.R801fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_9873 | 150530949 | 150531125 | 150531044 | 150531044 | Frame_Shift_Del | C | - | p.G826fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_9873 | 150530949 | 150531125 | 150531054 | 150531054 | Frame_Shift_Del | C | - | p.P831fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_9873 | 150530949 | 150531125 | 150531054 | 150531054 | Frame_Shift_Del | C | - | p.P831fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_9873 | 150530949 | 150531125 | 150531054 | 150531054 | Frame_Shift_Del | C | - | p.Q829fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_9874 | 150532237 | 150532381 | 150532255 | 150532255 | Frame_Shift_Del | G | - | p.G989fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_9874 | 150532237 | 150532381 | 150532255 | 150532255 | Frame_Shift_Del | G | - | p.Q987fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_9874 | 150532237 | 150532381 | 150532301 | 150532301 | Frame_Shift_Del | C | - | p.T1003fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_9874 | 150532237 | 150532381 | 150532301 | 150532301 | Frame_Shift_Del | C | - | p.T1003fs |
| COAD | TCGA-AA-3663-01 | exon_skip_9867 | 150529970 | 150530099 | 150530090 | 150530091 | Frame_Shift_Ins | - | C | p.C723fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_9868 | 150530421 | 150530625 | 150530505 | 150530506 | Frame_Shift_Ins | - | G | p.F754fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_9868 | 150530421 | 150530625 | 150530505 | 150530506 | Frame_Shift_Ins | - | G | p.G780fs |
| KIRC | TCGA-A3-3313-01 | exon_skip_9868 | 150530421 | 150530625 | 150530505 | 150530506 | Frame_Shift_Ins | - | G | p.LG754fs |
| UCEC | TCGA-AP-A0L9-01 | exon_skip_9868 | 150530421 | 150530625 | 150530505 | 150530506 | Frame_Shift_Ins | - | G | p.F777fs |
| STAD | TCGA-BR-6802-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530507 | Frame_Shift_Ins | - | G | p.F777fs |
| STAD | TCGA-CG-4306-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530507 | Frame_Shift_Ins | - | GG | p.F777fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_9868 | 150530421 | 150530625 | 150530506 | 150530507 | Frame_Shift_Ins | - | G | p.F777fs |
| HNSC | TCGA-CV-7248-01 | exon_skip_9863 | 150529097 | 150529269 | 150529140 | 150529140 | Nonsense_Mutation | G | A | p.W540* |
| SKCM | TCGA-YD-A9TA-06 | exon_skip_9868 | 150530421 | 150530625 | 150530601 | 150530601 | Nonsense_Mutation | G | A | p.W786* |
| - 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 |
| EN_ENDOMETRIUM | 150530421 | 150530625 | 150530527 | 150530527 | Frame_Shift_Del | C | - | p.P763fs |
| HELA_CERVIX | 150529097 | 150529269 | 150529181 | 150529181 | Missense_Mutation | T | A | p.V554D |
| NCIH1792_LUNG | 150529097 | 150529269 | 150529195 | 150529195 | Missense_Mutation | C | T | p.R559C |
| PFSK1_CENTRAL_NERVOUS_SYSTEM | 150530421 | 150530625 | 150530441 | 150530441 | Missense_Mutation | C | T | p.T733I |
| CHP126_AUTONOMIC_GANGLIA | 150530421 | 150530625 | 150530497 | 150530497 | Missense_Mutation | C | A | p.Q752K |
| SNU324_PANCREAS | 150530421 | 150530625 | 150530594 | 150530594 | Missense_Mutation | G | T | p.G784V |
| K029AX_SKIN | 150530421 | 150530625 | 150530602 | 150530602 | Missense_Mutation | G | A | p.E787K |
| OC316_OVARY | 150530949 | 150531125 | 150530965 | 150530965 | Missense_Mutation | G | A | p.G800D |
| OC314_OVARY | 150530949 | 150531125 | 150530965 | 150530965 | Missense_Mutation | G | A | p.G800D |
| CP67MEL_SKIN | 150530949 | 150531125 | 150531076 | 150531076 | Missense_Mutation | A | T | p.D837V |
| MEWO_SKIN | 150530949 | 150531125 | 150531080 | 150531080 | Missense_Mutation | G | A | p.M838I |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150532237 | 150532381 | 150532256 | 150532256 | Missense_Mutation | G | C | p.G988A |
| KMRC1_KIDNEY | 150532237 | 150532381 | 150532256 | 150532256 | Missense_Mutation | G | C | p.G988A |
| KPNYN_AUTONOMIC_GANGLIA | 150532237 | 150532381 | 150532256 | 150532256 | Missense_Mutation | G | C | p.G988A |
| MOGGUVW_CENTRAL_NERVOUS_SYSTEM | 150532237 | 150532381 | 150532331 | 150532331 | Missense_Mutation | G | C | p.R1013P |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150532237 | 150532381 | 150532345 | 150532345 | Missense_Mutation | C | T | p.R1018C |
| HCC366_LUNG | 150532237 | 150532381 | 150532352 | 150532352 | Missense_Mutation | G | T | p.C1020F |
| SW900_LUNG | 150529097 | 150529269 | 150529232 | 150529232 | Nonsense_Mutation | C | A | p.S571* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 150530949 | 150531125 | 150531027 | 150531027 | Nonsense_Mutation | C | T | p.Q821* |
| MCC13_SKIN | 150532237 | 150532381 | 150532381 | 150532382 | Splice_Site | GG | AA | p.G1030K |
| MCC13_SKIN | 150532237 | 150532381 | 150532381 | 150532381 | Splice_Site | G | A | p.D1030N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADAMTSL4 |
| 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 ADAMTSL4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADAMTSL4 |
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RelatedDrugs for ADAMTSL4 |
| 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 ADAMTSL4 |
| 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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