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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 SOX10 |
 Gene summary |
| Gene information | Gene symbol | SOX10 | Gene ID | 6663 |
| Gene name | SRY-box 10 | |
| Synonyms | DOM|PCWH|WS2E|WS4|WS4C | |
| Cytomap | 22q13.1 | |
| Type of gene | protein-coding | |
| Description | transcription factor SOX-10SRY (sex determining region Y)-box 10SRY-related HMG-box gene 10dominant megacolon, mouse, human homolog of | |
| Modification date | 20180523 | |
| UniProtAcc | P56693 | |
| Context | PubMed: SOX10 [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 SOX10 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 SOX10 |
| 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 SOX10 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_369337 | 22 | 38366692:38367305:38370050:38370205:38373873:38374142 | 38370050:38370205 | ENSG00000100146.12 | ENST00000446929.1 |
| exon_skip_369340 | 22 | 38370050:38370205:38373873:38374142:38379363:38379421 | 38373873:38374142 | ENSG00000100146.12 | ENST00000396884.2,ENST00000360880.2 |
| exon_skip_369343 | 22 | 38374088:38374142:38379363:38379875:38380345:38380415 | 38379363:38379875 | ENSG00000100146.12 | ENST00000396884.2,ENST00000360880.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SOX10 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_369337 | 22 | 38366692:38367305:38370050:38370205:38373873:38374142 | 38370050:38370205 | ENSG00000100146.12 | ENST00000446929.1 |
| exon_skip_369340 | 22 | 38370050:38370205:38373873:38374142:38379363:38379421 | 38373873:38374142 | ENSG00000100146.12 | ENST00000396884.2,ENST00000360880.2 |
| exon_skip_369343 | 22 | 38374088:38374142:38379363:38379875:38380345:38380415 | 38379363:38379875 | ENSG00000100146.12 | ENST00000396884.2,ENST00000360880.2 |
| 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 SOX10 |
| 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 |
| ENST00000360880 | 38379363 | 38379875 | 3UTR-3CDS |
| ENST00000396884 | 38379363 | 38379875 | 3UTR-3CDS |
| ENST00000360880 | 38373873 | 38374142 | Frame-shift |
| ENST00000396884 | 38373873 | 38374142 | Frame-shift |
| 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 |
| ENST00000360880 | 38379363 | 38379875 | 3UTR-3CDS |
| ENST00000396884 | 38379363 | 38379875 | 3UTR-3CDS |
| ENST00000360880 | 38373873 | 38374142 | Frame-shift |
| ENST00000396884 | 38373873 | 38374142 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SOX10 |
| 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 SOX10 |
| - 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. |
SOX10_SKCM_exon_skip_369340_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 |
| BLCA | TCGA-GC-A3RC-01 | exon_skip_369340 | 38373874 | 38374142 | 38374040 | 38374040 | Frame_Shift_Del | C | - | p.R177fs |
| BLCA | TCGA-GC-A3RC-01 | exon_skip_369340 | 38373874 | 38374142 | 38374040 | 38374040 | Frame_Shift_Del | C | - | p.R178fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_369343 | 38379364 | 38379875 | 38379376 | 38379376 | Frame_Shift_Del | C | - | p.G139fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_369343 | 38379364 | 38379875 | 38379585 | 38379585 | Frame_Shift_Del | G | - | p.P69fs |
| BRCA | TCGA-A8-A0A1-01 | exon_skip_369340 | 38373874 | 38374142 | 38373898 | 38373899 | Frame_Shift_Ins | - | A | p.D224fs |
| SKCM | TCGA-D3-A51J-06 | exon_skip_369343 | 38379364 | 38379875 | 38379617 | 38379617 | Nonsense_Mutation | G | A | p.Q59* |
| SKCM | TCGA-EB-A430-01 | exon_skip_369340 | 38373874 | 38374142 | 38373873 | 38373873 | Splice_Site | C | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EB-A430-01 |
| Cancer type: SKCM | |
| ESID: exon_skip_369340 | |
| Skipped exon start: 38373874 | |
| Skipped exon end: 38374142 | |
| Mutation start: 38373873 | |
| Mutation end: 38373873 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_369340_SKCM_TCGA-EB-A430-01.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 |
| BIN67_OVARY | 38379364 | 38379875 | 38379675 | 38379676 | In_Frame_Ins | - | CCG | p.39_39G>GG |
| HEC6_ENDOMETRIUM | 38370051 | 38370205 | 38370193 | 38370193 | Missense_Mutation | C | T | p.G237D |
| LS411N_LARGE_INTESTINE | 38373874 | 38374142 | 38373925 | 38373925 | Missense_Mutation | G | A | p.H216Y |
| BB30HNC_UPPER_AERODIGESTIVE_TRACT | 38373874 | 38374142 | 38373970 | 38373970 | Missense_Mutation | C | T | p.A201T |
| BB30PBL_MATCHED_NORMAL_TISSUE | 38373874 | 38374142 | 38373970 | 38373970 | Missense_Mutation | C | T | p.A201T |
| HT3_CERVIX | 38373874 | 38374142 | 38373978 | 38373978 | Missense_Mutation | C | T | p.G198D |
| MFE319_ENDOMETRIUM | 38373874 | 38374142 | 38374012 | 38374012 | Missense_Mutation | C | T | p.E187K |
| DV90_LUNG | 38373874 | 38374142 | 38374042 | 38374042 | Missense_Mutation | G | A | p.R177W |
| LS411N_LARGE_INTESTINE | 38373874 | 38374142 | 38374120 | 38374120 | Missense_Mutation | G | A | p.R151C |
| HCT15_LARGE_INTESTINE | 38379364 | 38379875 | 38379542 | 38379542 | Missense_Mutation | C | T | p.D84N |
| LS411N_LARGE_INTESTINE | 38379364 | 38379875 | 38379550 | 38379550 | Missense_Mutation | C | T | p.S81N |
| SW684_SOFT_TISSUE | 38379364 | 38379875 | 38379569 | 38379570 | Missense_Mutation | CC | TT | p.A75T |
| HEC151_ENDOMETRIUM | 38379364 | 38379875 | 38379575 | 38379575 | Missense_Mutation | G | A | p.R73C |
| LS180_LARGE_INTESTINE | 38379364 | 38379875 | 38379599 | 38379599 | Missense_Mutation | C | T | p.D65N |
| HKA1_SKIN | 38379364 | 38379875 | 38379623 | 38379623 | Missense_Mutation | C | T | p.E57K |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38379364 | 38379875 | 38379655 | 38379655 | Missense_Mutation | G | A | p.P46L |
| EFO27_OVARY | 38379364 | 38379875 | 38379787 | 38379787 | Missense_Mutation | G | A | p.A2V |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38373874 | 38374142 | 38374141 | 38374141 | Splice_Site | G | T | p.L144M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SOX10 |
| 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 SOX10 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SOX10 |
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RelatedDrugs for SOX10 |
| 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 SOX10 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SOX10 | C0036341 | Schizophrenia | 5 | PSYGENET |
| SOX10 | C1836727 | Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease | 2 | CTD_human;ORPHANET;UNIPROT |
| SOX10 | C2700405 | WAARDENBURG SYNDROME, TYPE IIE | 2 | UNIPROT |
| SOX10 | C2750452 | Waardenburg Syndrome, Type 4c | 2 | CTD_human;UNIPROT |
| SOX10 | C1656427 | early onset schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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