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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 ARSD |
 Gene summary |
| Gene information | Gene symbol | ARSD | Gene ID | 414 |
| Gene name | arylsulfatase D | |
| Synonyms | ASD | |
| Cytomap | Xp22.33 | |
| Type of gene | protein-coding | |
| Description | arylsulfatase Dtestis tissue sperm-binding protein Li 39a | |
| Modification date | 20180522 | |
| UniProtAcc | P51689 | |
| Context | PubMed: ARSD [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 ARSD 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 ARSD |
| 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 ARSD |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513574 | X | 2826761:2826883:2827857:2828020:2828699:2828834 | 2827857:2828020 | ENSG00000006756.11 | ENST00000381154.1 |
| exon_skip_513577 | X | 2827857:2828020:2828699:2828834:2833596:2833733 | 2828699:2828834 | ENSG00000006756.11 | ENST00000381154.1 |
| exon_skip_513580 | X | 2828699:2828834:2833596:2833733:2835844:2835919 | 2833596:2833733 | ENSG00000006756.11 | ENST00000381154.1 |
| exon_skip_513583 | X | 2832537:2832814:2833596:2833733:2835844:2835919 | 2833596:2833733 | ENSG00000006756.11 | ENST00000217890.6 |
| exon_skip_513587 | X | 2839943:2840065:2841208:2841347:2843656:2843806 | 2841208:2841347 | ENSG00000006756.11 | ENST00000559324.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARSD |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513574 | X | 2826761:2826883:2827857:2828020:2828699:2828834 | 2827857:2828020 | ENSG00000006756.11 | ENST00000381154.1 |
| exon_skip_513577 | X | 2827857:2828020:2828699:2828834:2833596:2833733 | 2828699:2828834 | ENSG00000006756.11 | ENST00000381154.1 |
| exon_skip_513580 | X | 2828699:2828834:2833596:2833733:2835844:2835919 | 2833596:2833733 | ENSG00000006756.11 | ENST00000381154.1 |
| exon_skip_513583 | X | 2832537:2832814:2833596:2833733:2835844:2835919 | 2833596:2833733 | ENSG00000006756.11 | ENST00000217890.6 |
| exon_skip_513587 | X | 2839943:2840065:2841208:2841347:2843656:2843806 | 2841208:2841347 | ENSG00000006756.11 | ENST00000559324.1 |
| 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 ARSD |
| 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 |
| ENST00000381154 | 2827857 | 2828020 | Frame-shift |
| ENST00000381154 | 2833596 | 2833733 | Frame-shift |
| ENST00000381154 | 2828699 | 2828834 | 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 |
| ENST00000381154 | 2827857 | 2828020 | Frame-shift |
| ENST00000381154 | 2833596 | 2833733 | Frame-shift |
| ENST00000381154 | 2828699 | 2828834 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARSD |
| 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 |
| ENST00000381154 | 5176 | 593 | 2828699 | 2828834 | 1077 | 1211 | 333 | 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 |
| ENST00000381154 | 5176 | 593 | 2828699 | 2828834 | 1077 | 1211 | 333 | 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 |
| P51689 | 333 | 378 | 334 | 382 | Alternative sequence | ID=VSP_015798;Note=In isoform 2. GKVLNAIEDNGLKNSTFTYFTSDHGGHLEARDGHSQLGGWNGIYKGGKG->ASDFMSSSEVTESEAIKLMFRTMQRRCLPSMAFKKPWRGPVRLQILKRA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11177574;Dbxref=PMID:11177574 |
| P51689 | 333 | 378 | 34 | 593 | Chain | ID=PRO_0000033424;Note=Arylsulfatase D |
| P51689 | 333 | 378 | 347 | 347 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
| P51689 | 333 | 378 | 356 | 356 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P51689 | 333 | 378 | 357 | 357 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| P51689 | 333 | 378 | 334 | 382 | Alternative sequence | ID=VSP_015798;Note=In isoform 2. GKVLNAIEDNGLKNSTFTYFTSDHGGHLEARDGHSQLGGWNGIYKGGKG->ASDFMSSSEVTESEAIKLMFRTMQRRCLPSMAFKKPWRGPVRLQILKRA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11177574;Dbxref=PMID:11177574 |
| P51689 | 333 | 378 | 34 | 593 | Chain | ID=PRO_0000033424;Note=Arylsulfatase D |
| P51689 | 333 | 378 | 347 | 347 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 |
| P51689 | 333 | 378 | 356 | 356 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P51689 | 333 | 378 | 357 | 357 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for ARSD |
| - 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-5C-AAPD-01 | exon_skip_513574 | 2827858 | 2828020 | 2827944 | 2827966 | Frame_Shift_Del | GGCCGGGAGCACCCCCGGCCAGT | - | p.397_405del |
| LIHC | TCGA-DD-A3A0-01 | 2828700 | 2828834 | 2828720 | 2828720 | Frame_Shift_Del | C | - | p.G372fs | |
| SKCM | TCGA-W3-A824-06 | exon_skip_513574 | 2827858 | 2828020 | 2827940 | 2827940 | Nonsense_Mutation | G | A | p.R406* |
| ESCA | TCGA-L5-A4OI-01 | 2828700 | 2828834 | 2828792 | 2828792 | Nonsense_Mutation | G | T | p.S348* | |
| ESCA | TCGA-L5-A4OI-01 | 2828700 | 2828834 | 2828792 | 2828792 | Nonsense_Mutation | G | T | p.S348X | |
| UCS | TCGA-N7-A4Y0-01 | 2828700 | 2828834 | 2828698 | 2828698 | Splice_Site | A | G | . |
| - 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 |
| NCIH2029_LUNG | 2827858 | 2828020 | 2827863 | 2827863 | Missense_Mutation | C | A | p.Q431H |
| CJM_SKIN | 2827858 | 2828020 | 2827943 | 2827943 | Missense_Mutation | C | A | p.G405C |
| GI1_CENTRAL_NERVOUS_SYSTEM | 2827858 | 2828020 | 2827952 | 2827952 | Missense_Mutation | G | A | p.L402F |
| BT483_BREAST | 2827858 | 2828020 | 2827984 | 2827984 | Missense_Mutation | C | T | p.R391H |
| SISO_CERVIX | 2828700 | 2828834 | 2828714 | 2828714 | Missense_Mutation | T | G | p.N374T |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2828700 | 2828834 | 2828714 | 2828714 | Missense_Mutation | T | G | p.N374T |
| JHUEM7_ENDOMETRIUM | 2828700 | 2828834 | 2828797 | 2828797 | Missense_Mutation | C | A | p.K346N |
| HCC4006_LUNG | 2833597 | 2833733 | 2833668 | 2833668 | Missense_Mutation | G | A | p.T310M |
| TE5_OESOPHAGUS | 2833597 | 2833733 | 2833668 | 2833668 | Missense_Mutation | G | A | p.T310M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARSD |
| 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 ARSD |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARSD |
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RelatedDrugs for ARSD |
| 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 ARSD |
| 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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