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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 ARSA |
 Gene summary |
| Gene information | Gene symbol | ARSA | Gene ID | 410 |
| Gene name | arylsulfatase A | |
| Synonyms | ASA|MLD | |
| Cytomap | 22q13.33 | |
| Type of gene | protein-coding | |
| Description | arylsulfatase Acerebroside-sulfatase | |
| Modification date | 20180522 | |
| UniProtAcc | P15289 | |
| Context | PubMed: ARSA [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 ARSA 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 ARSA |
| 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 ARSA |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_370919 | 22 | 51063790:51063892:51064006:51064109:51064363:51064491 | 51064006:51064109 | ENSG00000100299.13 | ENST00000216124.5,ENST00000395619.3,ENST00000547307.1,ENST00000453344.2,ENST00000395621.3,ENST00000356098.5,ENST00000547805.1 |
| exon_skip_370925 | 22 | 51064363:51064491:51064581:51064706:51065018:51065170 | 51064581:51064706 | ENSG00000100299.13 | ENST00000216124.5,ENST00000395619.3,ENST00000547307.1,ENST00000453344.2,ENST00000395621.3,ENST00000356098.5,ENST00000547805.1 |
| exon_skip_370933 | 22 | 51064581:51064706:51065018:51065188:51065261:51065417 | 51065018:51065188 | ENSG00000100299.13 | ENST00000216124.5,ENST00000395619.3,ENST00000547307.1,ENST00000453344.2,ENST00000395621.3,ENST00000356098.5,ENST00000547805.1 |
| exon_skip_370946 | 22 | 51065018:51065188:51065261:51065480:51065593:51065834 | 51065261:51065480 | ENSG00000100299.13 | ENST00000216124.5,ENST00000395619.3,ENST00000547307.1,ENST00000453344.2,ENST00000395621.3,ENST00000356098.5,ENST00000547805.1 |
| exon_skip_370950 | 22 | 51065261:51065480:51065593:51065834:51066373:51066598 | 51065593:51065834 | ENSG00000100299.13 | ENST00000453344.2 |
| exon_skip_370952 | 22 | 51065593:51065834:51065983:51066220:51066325:51066583 | 51065983:51066220 | ENSG00000100299.13 | ENST00000395621.3,ENST00000547805.1 |
| exon_skip_370953 | 22 | 51065688:51065834:51065983:51066220:51066373:51066598 | 51065983:51066220 | ENSG00000100299.13 | ENST00000356098.5 |
| exon_skip_370954 | 22 | 51065688:51065834:51065983:51066220:51066418:51066587 | 51065983:51066220 | ENSG00000100299.13 | ENST00000395619.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARSA |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_370909 | 22 | 51061181:51061455:51062201:51062323:51063790:51063892 | 51062201:51062323 | ENSG00000100299.13 | ENST00000608497.1 |
| exon_skip_370919 | 22 | 51063790:51063892:51064006:51064109:51064363:51064491 | 51064006:51064109 | ENSG00000100299.13 | ENST00000356098.5,ENST00000216124.5,ENST00000547307.1,ENST00000547805.1,ENST00000395621.3,ENST00000453344.2,ENST00000395619.3 |
| exon_skip_370925 | 22 | 51064363:51064491:51064581:51064706:51065018:51065170 | 51064581:51064706 | ENSG00000100299.13 | ENST00000356098.5,ENST00000216124.5,ENST00000547307.1,ENST00000547805.1,ENST00000395621.3,ENST00000453344.2,ENST00000395619.3 |
| exon_skip_370933 | 22 | 51064581:51064706:51065018:51065188:51065261:51065417 | 51065018:51065188 | ENSG00000100299.13 | ENST00000356098.5,ENST00000216124.5,ENST00000547307.1,ENST00000547805.1,ENST00000395621.3,ENST00000453344.2,ENST00000395619.3 |
| exon_skip_370946 | 22 | 51065018:51065188:51065261:51065480:51065593:51065834 | 51065261:51065480 | ENSG00000100299.13 | ENST00000356098.5,ENST00000216124.5,ENST00000547307.1,ENST00000547805.1,ENST00000395621.3,ENST00000453344.2,ENST00000395619.3 |
| exon_skip_370950 | 22 | 51065261:51065480:51065593:51065834:51066373:51066598 | 51065593:51065834 | ENSG00000100299.13 | ENST00000453344.2 |
| exon_skip_370952 | 22 | 51065593:51065834:51065983:51066220:51066325:51066583 | 51065983:51066220 | ENSG00000100299.13 | ENST00000547805.1,ENST00000395621.3 |
| exon_skip_370953 | 22 | 51065688:51065834:51065983:51066220:51066373:51066598 | 51065983:51066220 | ENSG00000100299.13 | ENST00000356098.5 |
| exon_skip_370954 | 22 | 51065688:51065834:51065983:51066220:51066418:51066587 | 51065983:51066220 | ENSG00000100299.13 | ENST00000395619.3 |
| 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 ARSA |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ARSA |
| 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 |
| 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 |
| 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 ARSA |
| - 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. |
ARSA_ESCA_exon_skip_370946_psi_boxplot.png |
| - 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_370919 | 51064007 | 51064109 | 51064081 | 51064081 | Frame_Shift_Del | G | - | p.P377fs |
| STAD | TCGA-HU-A4GU-01 | exon_skip_370950 | 51065594 | 51065834 | 51065640 | 51065641 | Frame_Shift_Ins | - | G | p.H140fs |
| STAD | TCGA-HU-A4GU-01 | exon_skip_370950 | 51065594 | 51065834 | 51065641 | 51065642 | Frame_Shift_Ins | - | G | p.H54fs |
| KIRC | TCGA-A3-3380-01 | exon_skip_370950 | 51065594 | 51065834 | 51065756 | 51065757 | Frame_Shift_Ins | - | C | p.A99fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_370950 | 51065594 | 51065834 | 51065756 | 51065757 | Frame_Shift_Ins | - | C | p.A99fs |
| ESCA | TCGA-JY-A6FH-01 | exon_skip_370946 | 51065262 | 51065480 | 51065261 | 51065261 | Splice_Site | C | T | . |
| ESCA | TCGA-JY-A6FH-01 | exon_skip_370946 | 51065262 | 51065480 | 51065261 | 51065261 | Splice_Site | C | T | e3+1 |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_370946 | 51065262 | 51065480 | 51065261 | 51065261 | Splice_Site | C | T | e3+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-JY-A6FH-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_370946 | |
| Skipped exon start: 51065262 | |
| Skipped exon end: 51065480 | |
| Mutation start: 51065261 | |
| Mutation end: 51065261 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
| Sample: TCGA-JY-A6FH-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_370946 | |
| Skipped exon start: 51065262 | |
| Skipped exon end: 51065480 | |
| Mutation start: 51065261 | |
| Mutation end: 51065261 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: e3+1 | |
exon_skip_136502_ESCA_TCGA-JY-A6FH-01.png | |
exon_skip_370946_ESCA_TCGA-JY-A6FH-01.png | |
exon_skip_506535_ESCA_TCGA-JY-A6FH-01.png | |
 | Sample: TCGA-A5-A0GB-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_370946 | |
| Skipped exon start: 51065262 | |
| Skipped exon end: 51065480 | |
| Mutation start: 51065261 | |
| Mutation end: 51065261 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: e3+1 | |
exon_skip_370946_UCEC_TCGA-A5-A0GB-01.png | |
exon_skip_433949_UCEC_TCGA-A5-A0GB-01.png | |
exon_skip_452233_UCEC_TCGA-A5-A0GB-01.png | |
exon_skip_474328_UCEC_TCGA-A5-A0GB-01.png | |
| - 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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51065262 | 51065480 | 51065364 | 51065364 | Frame_Shift_Del | G | - | p.P192fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 51065594 | 51065834 | 51065641 | 51065641 | Frame_Shift_Del | G | - | p.H138fs |
| DV90_LUNG | 51065594 | 51065834 | 51065757 | 51065757 | Frame_Shift_Del | C | - | p.G99fs |
| HCT116_LARGE_INTESTINE | 51065594 | 51065834 | 51065757 | 51065757 | Frame_Shift_Del | C | - | p.G99fs |
| SF126_CENTRAL_NERVOUS_SYSTEM | 51065984 | 51066220 | 51066051 | 51066051 | Frame_Shift_Del | G | - | p.Q51fs |
| HCT116_LARGE_INTESTINE | 51065594 | 51065834 | 51065640 | 51065641 | Frame_Shift_Ins | - | G | p.H138fs |
| LS180_LARGE_INTESTINE | 51065594 | 51065834 | 51065640 | 51065641 | Frame_Shift_Ins | - | G | p.H138fs |
| EN_ENDOMETRIUM | 51065594 | 51065834 | 51065756 | 51065757 | Frame_Shift_Ins | - | C | p.G99fs |
| HEC6_ENDOMETRIUM | 51064582 | 51064706 | 51064659 | 51064659 | Missense_Mutation | C | T | p.R299Q |
| SNU1_STOMACH | 51064582 | 51064706 | 51064693 | 51064693 | Missense_Mutation | G | A | p.R288C |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51065019 | 51065188 | 51065050 | 51065050 | Missense_Mutation | C | T | p.E273K |
| ES2_OVARY | 51065019 | 51065188 | 51065055 | 51065055 | Missense_Mutation | A | G | p.L271P |
| KM12_LARGE_INTESTINE | 51065019 | 51065188 | 51065070 | 51065070 | Missense_Mutation | C | A | p.G266V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51065019 | 51065188 | 51065073 | 51065073 | Missense_Mutation | A | G | p.I265T |
| NCIH1573_LUNG | 51065019 | 51065188 | 51065171 | 51065171 | Missense_Mutation | C | A | p.Q232H |
| RL952_ENDOMETRIUM | 51065262 | 51065480 | 51065288 | 51065288 | Missense_Mutation | G | A | p.P218S |
| RL952_ENDOMETRIUM | 51065262 | 51065480 | 51065291 | 51065291 | Missense_Mutation | G | A | p.R217C |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51065262 | 51065480 | 51065383 | 51065383 | Missense_Mutation | G | A | p.S186F |
| SNU1040_LARGE_INTESTINE | 51065262 | 51065480 | 51065393 | 51065393 | Missense_Mutation | C | T | p.A183T |
| YD15_SALIVARY_GLAND | 51065262 | 51065480 | 51065432 | 51065432 | Missense_Mutation | C | A | p.G170C |
| SNU503_LARGE_INTESTINE | 51065594 | 51065834 | 51065655 | 51065655 | Missense_Mutation | G | T | p.A133D |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51065594 | 51065834 | 51065673 | 51065673 | Missense_Mutation | C | A | p.G127V |
| PK59_PANCREAS | 51065594 | 51065834 | 51065761 | 51065761 | Missense_Mutation | C | T | p.G98R |
| HCT15_LARGE_INTESTINE | 51065984 | 51066220 | 51066075 | 51066075 | Missense_Mutation | T | A | p.S43C |
| M980513_SKIN | 51065262 | 51065480 | 51065262 | 51065262 | Splice_Site | G | A | p.H226H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARSA |
| 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 ARSA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARSA |
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RelatedDrugs for ARSA |
| 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 ARSA |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ARSA | C0023522 | Leukodystrophy, Metachromatic | 29 | CTD_human;UNIPROT |
| ARSA | C0001973 | Alcoholic Intoxication, Chronic | 4 | PSYGENET |
| ARSA | C0041696 | Unipolar Depression | 1 | PSYGENET |
| ARSA | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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