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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 ARSG |
 Gene summary |
| Gene information | Gene symbol | ARSG | Gene ID | 22901 |
| Gene name | arylsulfatase G | |
| Synonyms | - | |
| Cytomap | 17q24.2 | |
| Type of gene | protein-coding | |
| Description | arylsulfatase GASG | |
| Modification date | 20180522 | |
| UniProtAcc | Q96EG1 | |
| Context | PubMed: ARSG [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 |
| ARSG | GO:0006790 | sulfur compound metabolic process | 18283100 |
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Exon skipping events across known transcript of Ensembl for ARSG 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 ARSG |
| 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 ARSG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155515 | 17 | 66303083:66303852:66339744:66339932:66343265:66343313 | 66339744:66339932 | ENSG00000141337.8 | ENST00000448504.2 |
| exon_skip_155516 | 17 | 66339744:66339932:66343265:66343313:66347715:66347827 | 66343265:66343313 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2 |
| exon_skip_155517 | 17 | 66352807:66352945:66364688:66364885:66366584:66366665 | 66364688:66364885 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| exon_skip_155523 | 17 | 66364688:66364885:66366584:66366665:66381204:66381313 | 66366584:66366665 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| exon_skip_155524 | 17 | 66366584:66366665:66381204:66381313:66391213:66391334 | 66381204:66381313 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| exon_skip_155525 | 17 | 66381204:66381313:66391213:66391334:66397500:66397591 | 66391213:66391334 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| exon_skip_155532 | 17 | 66391213:66391334:66397500:66397591:66416329:66416666 | 66397500:66397591 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARSG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155515 | 17 | 66303083:66303852:66339744:66339932:66343265:66343313 | 66339744:66339932 | ENSG00000141337.8 | ENST00000448504.2 |
| exon_skip_155516 | 17 | 66339744:66339932:66343265:66343313:66347715:66347827 | 66343265:66343313 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2 |
| exon_skip_155517 | 17 | 66352807:66352945:66364688:66364885:66366584:66366665 | 66364688:66364885 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| exon_skip_155523 | 17 | 66364688:66364885:66366584:66366665:66381204:66381313 | 66366584:66366665 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| exon_skip_155524 | 17 | 66366584:66366665:66381204:66381313:66391213:66391334 | 66381204:66381313 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| exon_skip_155525 | 17 | 66381204:66381313:66391213:66391334:66397500:66397591 | 66391213:66391334 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| exon_skip_155532 | 17 | 66391213:66391334:66397500:66397591:66416329:66416666 | 66397500:66397591 | ENSG00000141337.8 | ENST00000448504.2,ENST00000452479.2,ENST00000582154.1 |
| 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 ARSG |
| 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 |
| ENST00000448504 | 66339744 | 66339932 | Frame-shift |
| ENST00000448504 | 66364688 | 66364885 | Frame-shift |
| ENST00000448504 | 66381204 | 66381313 | Frame-shift |
| ENST00000448504 | 66391213 | 66391334 | Frame-shift |
| ENST00000448504 | 66397500 | 66397591 | Frame-shift |
| ENST00000448504 | 66343265 | 66343313 | In-frame |
| ENST00000448504 | 66366584 | 66366665 | 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 |
| ENST00000448504 | 66339744 | 66339932 | Frame-shift |
| ENST00000448504 | 66364688 | 66364885 | Frame-shift |
| ENST00000448504 | 66381204 | 66381313 | Frame-shift |
| ENST00000448504 | 66391213 | 66391334 | Frame-shift |
| ENST00000448504 | 66397500 | 66397591 | Frame-shift |
| ENST00000448504 | 66343265 | 66343313 | In-frame |
| ENST00000448504 | 66366584 | 66366665 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARSG |
| 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 |
| ENST00000448504 | 4659 | 525 | 66343265 | 66343313 | 1203 | 1250 | 135 | 151 |
| ENST00000448504 | 4659 | 525 | 66366584 | 66366665 | 1698 | 1778 | 300 | 327 |
| 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 |
| ENST00000448504 | 4659 | 525 | 66343265 | 66343313 | 1203 | 1250 | 135 | 151 |
| ENST00000448504 | 4659 | 525 | 66366584 | 66366665 | 1698 | 1778 | 300 | 327 |
| 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 |
| Q96EG1 | 135 | 151 | 139 | 139 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P15289 |
| Q96EG1 | 135 | 151 | 137 | 137 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EG1 | 135 | 151 | 17 | 525 | Chain | ID=PRO_0000042215;Note=Arylsulfatase G |
| Q96EG1 | 300 | 327 | 17 | 525 | Chain | ID=PRO_0000042215;Note=Arylsulfatase G |
| Q96EG1 | 300 | 327 | 302 | 302 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EG1 | 300 | 327 | 303 | 303 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EG1 | 300 | 327 | 326 | 326 | Natural variant | ID=VAR_074038;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25825126;Dbxref=dbSNP:rs144503106,PMID:25825126 |
| 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 |
| Q96EG1 | 135 | 151 | 139 | 139 | Active site | Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P15289 |
| Q96EG1 | 135 | 151 | 137 | 137 | Binding site | Note=Substrate;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EG1 | 135 | 151 | 17 | 525 | Chain | ID=PRO_0000042215;Note=Arylsulfatase G |
| Q96EG1 | 300 | 327 | 17 | 525 | Chain | ID=PRO_0000042215;Note=Arylsulfatase G |
| Q96EG1 | 300 | 327 | 302 | 302 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EG1 | 300 | 327 | 303 | 303 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96EG1 | 300 | 327 | 326 | 326 | Natural variant | ID=VAR_074038;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25825126;Dbxref=dbSNP:rs144503106,PMID:25825126 |
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SNVs in the skipped exons for ARSG |
| - 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-A39Y-01 | exon_skip_155517 | 66364689 | 66364885 | 66364805 | 66364805 | Frame_Shift_Del | G | - | p.W274fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_155524 | 66381205 | 66381313 | 66381251 | 66381251 | Frame_Shift_Del | C | - | p.V343fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_155525 | 66391214 | 66391334 | 66391225 | 66391225 | Frame_Shift_Del | T | - | p.I368fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_155525 | 66391214 | 66391334 | 66391243 | 66391243 | Frame_Shift_Del | C | - | p.A374fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_155532 | 66397501 | 66397591 | 66397512 | 66397512 | Frame_Shift_Del | C | - | p.H408fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_155532 | 66397501 | 66397591 | 66397512 | 66397512 | Frame_Shift_Del | C | - | p.H408fs |
| LUAD | TCGA-MP-A4TC-01 | exon_skip_155516 | 66343266 | 66343313 | 66343280 | 66343280 | Nonsense_Mutation | G | T | p.G141* |
| BLCA | TCGA-K4-A6MB-01 | exon_skip_155523 | 66366585 | 66366665 | 66366605 | 66366605 | Nonsense_Mutation | C | T | p.Q308* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_155524 | 66381205 | 66381313 | 66381269 | 66381269 | Nonsense_Mutation | G | A | p.W349* |
| - 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 |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 66339745 | 66339932 | 66339753 | 66339753 | Missense_Mutation | A | G | p.D76G |
| SNU1040_LARGE_INTESTINE | 66339745 | 66339932 | 66339762 | 66339762 | Missense_Mutation | C | T | p.A79V |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66339745 | 66339932 | 66339822 | 66339822 | Missense_Mutation | G | A | p.R99H |
| RKN_SOFT_TISSUE | 66339745 | 66339932 | 66339876 | 66339876 | Missense_Mutation | A | T | p.N117I |
| HEC108_ENDOMETRIUM | 66339745 | 66339932 | 66339906 | 66339906 | Missense_Mutation | A | G | p.Q127R |
| DSH1_URINARY_TRACT | 66339745 | 66339932 | 66339930 | 66339930 | Missense_Mutation | T | A | p.I135K |
| SW1271_LUNG | 66343266 | 66343313 | 66343293 | 66343293 | Missense_Mutation | C | T | p.S145F |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66364689 | 66364885 | 66364734 | 66364734 | Missense_Mutation | G | A | p.M250I |
| SNUC2A_LARGE_INTESTINE | 66364689 | 66364885 | 66364769 | 66364769 | Missense_Mutation | C | T | p.A262V |
| SNUC2B_LARGE_INTESTINE | 66364689 | 66364885 | 66364769 | 66364769 | Missense_Mutation | C | T | p.A262V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66364689 | 66364885 | 66364775 | 66364775 | Missense_Mutation | G | T | p.R264L |
| SAOS2_BONE | 66364689 | 66364885 | 66364778 | 66364778 | Missense_Mutation | G | T | p.G265V |
| NCIH510_LUNG | 66364689 | 66364885 | 66364872 | 66364872 | Missense_Mutation | C | A | p.F296L |
| SNU81_LARGE_INTESTINE | 66364689 | 66364885 | 66364873 | 66364873 | Missense_Mutation | C | A | p.L297I |
| AN3CA_ENDOMETRIUM | 66366585 | 66366665 | 66366611 | 66366611 | Missense_Mutation | T | C | p.C310R |
| SNUC4_LARGE_INTESTINE | 66391214 | 66391334 | 66391230 | 66391230 | Missense_Mutation | C | T | p.P370S |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66391214 | 66391334 | 66391275 | 66391275 | Missense_Mutation | C | T | p.R385C |
| CL34_LARGE_INTESTINE | 66391214 | 66391334 | 66391299 | 66391299 | Missense_Mutation | G | A | p.E393K |
| LS411N_LARGE_INTESTINE | 66397501 | 66397591 | 66397528 | 66397528 | Missense_Mutation | G | A | p.A414T |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66397501 | 66397591 | 66397529 | 66397529 | Missense_Mutation | C | A | p.A414D |
| JMSU1_URINARY_TRACT | 66397501 | 66397591 | 66397567 | 66397567 | Missense_Mutation | C | T | p.R427C |
| SNU489_CENTRAL_NERVOUS_SYSTEM | 66397501 | 66397591 | 66397567 | 66397567 | Missense_Mutation | C | T | p.R427C |
| HCT15_LARGE_INTESTINE | 66381205 | 66381313 | 66381205 | 66381205 | Splice_Site | G | T | p.G328V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARSG |
| 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 ARSG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARSG |
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RelatedDrugs for ARSG |
| 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 ARSG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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