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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 ARSF |
 Gene summary |
| Gene information | Gene symbol | ARSF | Gene ID | 416 |
| Gene name | arylsulfatase F | |
| Synonyms | ASF | |
| Cytomap | Xp22.33 | |
| Type of gene | protein-coding | |
| Description | arylsulfatase F | |
| Modification date | 20180522 | |
| UniProtAcc | P54793 | |
| Context | PubMed: ARSF [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 ARSF 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 ARSF |
| 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 ARSF |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509039 | X | 2994588:2994710:2998931:2999054:3002283:3002707 | 2998931:2999054 | ENSG00000062096.10 | ENST00000537104.1,ENST00000381127.1,ENST00000359361.2 |
| exon_skip_509040 | X | 3002283:3002707:3007536:3007673:3019127:3019262 | 3007536:3007673 | ENSG00000062096.10 | ENST00000537104.1,ENST00000381127.1,ENST00000359361.2 |
| exon_skip_509046 | X | 3019127:3019262:3021802:3021965:3028168:3028293 | 3021802:3021965 | ENSG00000062096.10 | ENST00000537104.1,ENST00000381127.1,ENST00000359361.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARSF |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_509039 | X | 2994588:2994710:2998931:2999054:3002283:3002707 | 2998931:2999054 | ENSG00000062096.10 | ENST00000381127.1,ENST00000537104.1,ENST00000359361.2 |
| exon_skip_509040 | X | 3002283:3002707:3007536:3007673:3019127:3019262 | 3007536:3007673 | ENSG00000062096.10 | ENST00000381127.1,ENST00000537104.1,ENST00000359361.2 |
| exon_skip_509046 | X | 3019127:3019262:3021802:3021965:3028168:3028293 | 3021802:3021965 | ENSG00000062096.10 | ENST00000381127.1,ENST00000537104.1,ENST00000359361.2 |
| 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 ARSF |
| 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 |
| ENST00000359361 | 3007536 | 3007673 | Frame-shift |
| ENST00000381127 | 3007536 | 3007673 | Frame-shift |
| ENST00000359361 | 3021802 | 3021965 | Frame-shift |
| ENST00000381127 | 3021802 | 3021965 | Frame-shift |
| ENST00000359361 | 2998931 | 2999054 | In-frame |
| ENST00000381127 | 2998931 | 2999054 | 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 |
| ENST00000359361 | 3007536 | 3007673 | Frame-shift |
| ENST00000381127 | 3007536 | 3007673 | Frame-shift |
| ENST00000359361 | 3021802 | 3021965 | Frame-shift |
| ENST00000381127 | 3021802 | 3021965 | Frame-shift |
| ENST00000359361 | 2998931 | 2999054 | In-frame |
| ENST00000381127 | 2998931 | 2999054 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARSF |
| 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 |
| ENST00000359361 | 2008 | 590 | 2998931 | 2999054 | 352 | 474 | 94 | 135 |
| ENST00000381127 | 2181 | 590 | 2998931 | 2999054 | 505 | 627 | 94 | 135 |
| 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 |
| ENST00000359361 | 2008 | 590 | 2998931 | 2999054 | 352 | 474 | 94 | 135 |
| ENST00000381127 | 2181 | 590 | 2998931 | 2999054 | 505 | 627 | 94 | 135 |
| 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 |
| P54793 | 94 | 135 | 23 | 590 | Chain | ID=PRO_0000033427;Note=Arylsulfatase F |
| P54793 | 94 | 135 | 23 | 590 | Chain | ID=PRO_0000033427;Note=Arylsulfatase F |
| P54793 | 94 | 135 | 117 | 117 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P54793 | 94 | 135 | 117 | 117 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P54793 | 94 | 135 | 23 | 590 | Chain | ID=PRO_0000033427;Note=Arylsulfatase F |
| P54793 | 94 | 135 | 23 | 590 | Chain | ID=PRO_0000033427;Note=Arylsulfatase F |
| P54793 | 94 | 135 | 117 | 117 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P54793 | 94 | 135 | 117 | 117 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ARSF |
| - 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_509046 | 3021803 | 3021965 | 3021917 | 3021917 | Frame_Shift_Del | T | - | p.I406fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_509040 | 3007537 | 3007673 | 3007554 | 3007555 | Frame_Shift_Ins | - | C | p.S283fs |
| HNSC | TCGA-DQ-5631-01 | exon_skip_509039 | 2998932 | 2999054 | 2998964 | 2998964 | Nonsense_Mutation | C | T | p.Q106* |
| HNSC | TCGA-CV-7101-01 | exon_skip_509046 | 3021803 | 3021965 | 3021856 | 3021856 | Nonsense_Mutation | C | T | p.R386* |
| STAD | TCGA-BR-4368-01 | exon_skip_509046 | 3021803 | 3021965 | 3021856 | 3021856 | Nonsense_Mutation | C | T | p.R386* |
| STAD | TCGA-BR-4368-01 | exon_skip_509046 | 3021803 | 3021965 | 3021856 | 3021856 | Nonsense_Mutation | C | T | p.R386X |
| - 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 |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2998932 | 2999054 | 2998961 | 2998961 | Missense_Mutation | A | G | p.I105V |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2998932 | 2999054 | 2998961 | 2998961 | Missense_Mutation | A | G | p.I105V |
| HEC59_ENDOMETRIUM | 2998932 | 2999054 | 2999048 | 2999048 | Missense_Mutation | C | T | p.L134F |
| LU165_LUNG | 3007537 | 3007673 | 3007644 | 3007644 | Missense_Mutation | A | T | p.D313V |
| ME180_CERVIX | 3007537 | 3007673 | 3007655 | 3007655 | Missense_Mutation | G | A | p.E317K |
| NCIH345_LUNG | 3021803 | 3021965 | 3021818 | 3021818 | Missense_Mutation | G | T | p.G373V |
| G401_SOFT_TISSUE | 3021803 | 3021965 | 3021857 | 3021857 | Missense_Mutation | G | T | p.R386L |
| NCIH2347_LUNG | 3021803 | 3021965 | 3021863 | 3021863 | Missense_Mutation | C | T | p.P388L |
| CORL24_LUNG | 3021803 | 3021965 | 3021902 | 3021902 | Missense_Mutation | C | T | p.T401I |
| MEWO_SKIN | 3021803 | 3021965 | 3021946 | 3021946 | Missense_Mutation | G | A | p.G416R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARSF |
| 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 ARSF |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARSF |
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RelatedDrugs for ARSF |
| 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 ARSF |
| 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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