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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 ADAMTSL1 |
 Gene summary |
| Gene information | Gene symbol | ADAMTSL1 | Gene ID | 92949 |
| Gene name | ADAMTS like 1 | |
| Synonyms | ADAMTSL-1|ADAMTSR1|C9orf94|PUNCTIN | |
| Cytomap | 9p22.2-p22.1 | |
| Type of gene | protein-coding | |
| Description | ADAMTS-like protein 1ADAM-TS related protein 1punctin-1 | |
| Modification date | 20180522 | |
| UniProtAcc | Q8N6G6 | |
| Context | PubMed: ADAMTSL1 [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 ADAMTSL1 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 ADAMTSL1 |
| 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 ADAMTSL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495185 | 9 | 18574027:18574264:18622240:18622367:18635940:18636015 | 18622240:18622367 | ENSG00000178031.11 | ENST00000380566.4,ENST00000276935.6,ENST00000380548.4,ENST00000327883.7 |
| exon_skip_495187 | 9 | 18635940:18636015:18639251:18639409:18657636:18657748 | 18639251:18639409 | ENSG00000178031.11 | ENST00000380566.4,ENST00000276935.6,ENST00000380548.4,ENST00000327883.7 |
| exon_skip_495189 | 9 | 18661932:18662071:18675854:18675905:18680309:18680514 | 18675854:18675905 | ENSG00000178031.11 | ENST00000276935.6,ENST00000380548.4,ENST00000327883.7 |
| exon_skip_495190 | 9 | 18675854:18675905:18680309:18680514:18681809:18681957 | 18680309:18680514 | ENSG00000178031.11 | ENST00000276935.6,ENST00000380548.4,ENST00000327883.7 |
| exon_skip_495194 | 9 | 18887828:18888041:18889565:18889746:18905779:18905889 | 18889565:18889746 | ENSG00000178031.11 | ENST00000542621.1 |
| exon_skip_495195 | 9 | 18889565:18889746:18892386:18892594:18905779:18905889 | 18892386:18892594 | ENSG00000178031.11 | ENST00000380559.3,ENST00000380548.4,ENST00000380545.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ADAMTSL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495185 | 9 | 18574027:18574264:18622240:18622367:18635940:18636015 | 18622240:18622367 | ENSG00000178031.11 | ENST00000380548.4,ENST00000327883.7,ENST00000380566.4,ENST00000276935.6 |
| exon_skip_495187 | 9 | 18635940:18636015:18639251:18639409:18657636:18657748 | 18639251:18639409 | ENSG00000178031.11 | ENST00000380548.4,ENST00000327883.7,ENST00000380566.4,ENST00000276935.6 |
| exon_skip_495189 | 9 | 18661932:18662071:18675854:18675905:18680309:18680514 | 18675854:18675905 | ENSG00000178031.11 | ENST00000380548.4,ENST00000327883.7,ENST00000276935.6 |
| exon_skip_495190 | 9 | 18675854:18675905:18680309:18680514:18681809:18681957 | 18680309:18680514 | ENSG00000178031.11 | ENST00000380548.4,ENST00000327883.7,ENST00000276935.6 |
| exon_skip_495194 | 9 | 18887828:18888041:18889565:18889746:18905779:18905889 | 18889565:18889746 | ENSG00000178031.11 | ENST00000542621.1 |
| exon_skip_495195 | 9 | 18889565:18889746:18892386:18892594:18905779:18905889 | 18892386:18892594 | ENSG00000178031.11 | ENST00000380548.4,ENST00000380559.3,ENST00000380545.5 |
| 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 ADAMTSL1 |
| 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 |
| ENST00000327883 | 18622240 | 18622367 | Frame-shift |
| ENST00000327883 | 18639251 | 18639409 | Frame-shift |
| ENST00000327883 | 18680309 | 18680514 | Frame-shift |
| ENST00000327883 | 18675854 | 18675905 | 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 |
| ENST00000327883 | 18622240 | 18622367 | Frame-shift |
| ENST00000327883 | 18639251 | 18639409 | Frame-shift |
| ENST00000327883 | 18680309 | 18680514 | Frame-shift |
| ENST00000327883 | 18675854 | 18675905 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ADAMTSL1 |
| 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 |
| ENST00000327883 | 1881 | 1762 | 18675854 | 18675905 | 1219 | 1269 | 362 | 378 |
| 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 |
| ENST00000327883 | 1881 | 1762 | 18675854 | 18675905 | 1219 | 1269 | 362 | 378 |
| 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 |
| 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 |
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SNVs in the skipped exons for ADAMTSL1 |
| - 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-G3-A3CJ-01 | exon_skip_495185 | 18622241 | 18622367 | 18622364 | 18622364 | Frame_Shift_Del | A | - | p.K200fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_495189 | 18675855 | 18675905 | 18675895 | 18675895 | Frame_Shift_Del | C | - | p.P376fs |
| COAD | TCGA-CM-4743-01 | exon_skip_495190 | 18680310 | 18680514 | 18680350 | 18680350 | Frame_Shift_Del | G | - | p.C392fs |
| COAD | TCGA-F4-6856-01 | exon_skip_495190 | 18680310 | 18680514 | 18680350 | 18680350 | Frame_Shift_Del | G | - | p.C392fs |
| ESCA | TCGA-Z6-A9VB-01 | exon_skip_495190 | 18680310 | 18680514 | 18680350 | 18680350 | Frame_Shift_Del | G | - | p.G395fs |
| PAAD | TCGA-HZ-8315-01 | exon_skip_495190 | 18680310 | 18680514 | 18680350 | 18680350 | Frame_Shift_Del | G | - | p.G395fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_495194 | 18889566 | 18889746 | 18889620 | 18889620 | Frame_Shift_Del | G | - | p.R1506fs |
| BRCA | TCGA-E9-A1NC-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.I395fs |
| COAD | TCGA-D5-6540-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.C392fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.I395fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.WG392fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.I395fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.WG392fs |
| KIRC | TCGA-A3-3378-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.WG392fs |
| KIRC | TCGA-AK-3444-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.WG392fs |
| READ | TCGA-DC-4749-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.C392fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_495190 | 18680310 | 18680514 | 18680349 | 18680350 | Frame_Shift_Ins | - | G | p.WG392fs |
| STAD | TCGA-BR-8078-01 | exon_skip_495190 | 18680310 | 18680514 | 18680350 | 18680351 | Frame_Shift_Ins | - | G | p.C392fs |
| STAD | TCGA-BR-8361-01 | exon_skip_495190 | 18680310 | 18680514 | 18680350 | 18680351 | Frame_Shift_Ins | - | G | p.C392fs |
| UCS | TCGA-ND-A4WF-01 | exon_skip_495185 | 18622241 | 18622367 | 18622331 | 18622331 | Nonsense_Mutation | C | T | p.R189* |
| UCS | TCGA-ND-A4WF-01 | exon_skip_495185 | 18622241 | 18622367 | 18622331 | 18622331 | Nonsense_Mutation | C | T | p.R189X |
| BRCA | TCGA-E2-A1LG-01 | exon_skip_495187 | 18639252 | 18639409 | 18639298 | 18639298 | Nonsense_Mutation | C | G | p.S29* |
| SARC | TCGA-DX-AB2E-01 | exon_skip_495190 | 18680310 | 18680514 | 18680328 | 18680328 | Nonsense_Mutation | G | A | p.W385* |
| SKCM | TCGA-FS-A1ZA-06 | exon_skip_495190 | 18680310 | 18680514 | 18680362 | 18680362 | Nonsense_Mutation | C | T | p.Q397* |
| SKCM | TCGA-FS-A1ZA-06 | exon_skip_495190 | 18680310 | 18680514 | 18680362 | 18680362 | Nonsense_Mutation | C | T | p.Q397X |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_495194 | 18889566 | 18889746 | 18889628 | 18889628 | Nonsense_Mutation | C | T | p.Q1509* |
| SKCM | TCGA-W3-A824-06 | exon_skip_495195 | 18892387 | 18892594 | 18892414 | 18892414 | Nonsense_Mutation | T | A | p.C1557* |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_495187 | 18639252 | 18639409 | 18639251 | 18639251 | Splice_Site | G | T | e7-1 |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_495187 | 18639252 | 18639409 | 18639251 | 18639251 | Splice_Site | G | T | p.Y226_splice |
| UCS | TCGA-ND-A4WC-01 | exon_skip_495187 | 18639252 | 18639409 | 18639251 | 18639251 | Splice_Site | G | T | . |
| SKCM | TCGA-DA-A3F8-06 | exon_skip_495194 | 18889566 | 18889746 | 18889747 | 18889747 | Splice_Site | G | A | . |
| - 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 |
| SW48_LARGE_INTESTINE | 18639252 | 18639409 | 18639263 | 18639263 | Frame_Shift_Del | A | - | p.K230fs |
| NCIH650_LUNG | 18622241 | 18622367 | 18622272 | 18622272 | Missense_Mutation | C | A | p.T169N |
| SNU1040_LARGE_INTESTINE | 18622241 | 18622367 | 18622299 | 18622299 | Missense_Mutation | G | A | p.C178Y |
| MM426_SKIN | 18622241 | 18622367 | 18622347 | 18622347 | Missense_Mutation | C | T | p.S194F |
| JVM3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18622241 | 18622367 | 18622358 | 18622358 | Missense_Mutation | G | A | p.A198T |
| MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18639252 | 18639409 | 18639273 | 18639273 | Missense_Mutation | A | G | p.Q233R |
| NB14_AUTONOMIC_GANGLIA | 18639252 | 18639409 | 18639276 | 18639276 | Missense_Mutation | G | A | p.G234E |
| HCC2998_LARGE_INTESTINE | 18639252 | 18639409 | 18639352 | 18639352 | Missense_Mutation | T | A | p.F259L |
| M00921_SKIN | 18639252 | 18639409 | 18639372 | 18639372 | Missense_Mutation | G | A | p.R266K |
| 2313287_STOMACH | 18639252 | 18639409 | 18639392 | 18639392 | Missense_Mutation | G | A | p.A273T |
| GP2D_LARGE_INTESTINE | 18675855 | 18675905 | 18675874 | 18675874 | Missense_Mutation | A | G | p.M369V |
| GP5D_LARGE_INTESTINE | 18675855 | 18675905 | 18675874 | 18675874 | Missense_Mutation | A | G | p.M369V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18680310 | 18680514 | 18680333 | 18680333 | Missense_Mutation | C | T | p.A387V |
| RKO_LARGE_INTESTINE | 18680310 | 18680514 | 18680368 | 18680368 | Missense_Mutation | C | T | p.R399W |
| NCIH378_LUNG | 18680310 | 18680514 | 18680380 | 18680380 | Missense_Mutation | T | A | p.C403S |
| BE2M17_AUTONOMIC_GANGLIA | 18680310 | 18680514 | 18680400 | 18680400 | Missense_Mutation | G | T | p.Q409H |
| IGROV1_OVARY | 18680310 | 18680514 | 18680431 | 18680431 | Missense_Mutation | T | C | p.C420R |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18680310 | 18680514 | 18680441 | 18680441 | Missense_Mutation | C | T | p.T423I |
| CW2_LARGE_INTESTINE | 18889566 | 18889746 | 18889580 | 18889580 | Missense_Mutation | G | A | p.V1493M |
| MFE319_ENDOMETRIUM | 18889566 | 18889746 | 18889608 | 18889608 | Missense_Mutation | C | T | p.S1502F |
| MCC26_SKIN | 18889566 | 18889746 | 18889664 | 18889664 | Missense_Mutation | G | A | p.E1521K |
| ESO26_OESOPHAGUS | 18889566 | 18889746 | 18889671 | 18889671 | Missense_Mutation | A | C | p.N1523T |
| HS675T_FIBROBLAST | 18889566 | 18889746 | 18889718 | 18889718 | Missense_Mutation | G | A | p.A1539T |
| JHUEM2_ENDOMETRIUM | 18892387 | 18892594 | 18892500 | 18892500 | Missense_Mutation | A | G | p.N1586S |
| SNU81_LARGE_INTESTINE | 18892387 | 18892594 | 18892526 | 18892526 | Missense_Mutation | C | T | p.R1595W |
| TTC466_BONE | 18892387 | 18892594 | 18892527 | 18892527 | Missense_Mutation | G | A | p.R1595Q |
| HCC1395_MATCHED_NORMAL_TISSUE | 18892387 | 18892594 | 18892527 | 18892527 | Missense_Mutation | G | A | p.R1595Q |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18680310 | 18680514 | 18680513 | 18680513 | Splice_Site | C | T | p.P447L |
| HEC251_ENDOMETRIUM | 18889566 | 18889746 | 18889745 | 18889745 | Splice_Site | C | T | p.R1548W |
| LNCAPCLONEFGC_PROSTATE | 18889566 | 18889746 | 18889746 | 18889746 | Splice_Site | G | A | p.R1548Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADAMTSL1 |
| 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 |
| exon_skip_495187 | 9 | 18635940:18636015:18639251:18639409:18657636:18657748 | 18639251:18639409 | ENST00000380566.4,ENST00000276935.6,ENST00000380548.4,ENST00000327883.7 | LUAD | rs776755 | chr9:18639300 | A/G | 1.79e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADAMTSL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADAMTSL1 |
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RelatedDrugs for ADAMTSL1 |
| 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 ADAMTSL1 |
| 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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