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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for NSDHL |
Gene summary |
Gene information | Gene symbol | NSDHL | Gene ID | 50814 |
Gene name | NAD(P) dependent steroid dehydrogenase-like | |
Synonyms | H105E3|SDR31E1|XAP104 | |
Cytomap | Xq28 | |
Type of gene | protein-coding | |
Description | sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylatingprotein H105e3short chain dehydrogenase/reductase family 31E, member 1 | |
Modification date | 20180523 | |
UniProtAcc | Q15738 | |
Context | PubMed: NSDHL [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 NSDHL 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 NSDHL |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NSDHL |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_512770 | X | 151999540:151999661:152000177:152000244:152014825:152014976 | 152000177:152000244 | ENSG00000147383.6 | ENST00000432467.1,ENST00000440023.1 |
exon_skip_512778 | X | 152014825:152014976:152018808:152018967:152027313:152027460 | 152018808:152018967 | ENSG00000147383.6 | ENST00000370274.3,ENST00000432467.1,ENST00000440023.1 |
exon_skip_512779 | X | 152018808:152018967:152027313:152027460:152031139:152031268 | 152027313:152027460 | ENSG00000147383.6 | ENST00000370274.3,ENST00000432467.1,ENST00000440023.1 |
exon_skip_512780 | X | 152034362:152034505:152036114:152036217:152037327:152037907 | 152036114:152036217 | ENSG00000147383.6 | ENST00000370274.3,ENST00000440023.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NSDHL |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_512770 | X | 151999540:151999661:152000177:152000244:152014825:152014976 | 152000177:152000244 | ENSG00000147383.6 | ENST00000440023.1,ENST00000432467.1 |
exon_skip_512778 | X | 152014825:152014976:152018808:152018967:152027313:152027460 | 152018808:152018967 | ENSG00000147383.6 | ENST00000370274.3,ENST00000440023.1,ENST00000432467.1 |
exon_skip_512779 | X | 152018808:152018967:152027313:152027460:152031139:152031268 | 152027313:152027460 | ENSG00000147383.6 | ENST00000370274.3,ENST00000440023.1,ENST00000432467.1 |
exon_skip_512780 | X | 152034362:152034505:152036114:152036217:152037327:152037907 | 152036114:152036217 | ENSG00000147383.6 | ENST00000370274.3,ENST00000440023.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NSDHL |
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 |
ENST00000440023 | 152000177 | 152000244 | 5UTR-5UTR |
ENST00000370274 | 152036114 | 152036217 | Frame-shift |
ENST00000440023 | 152036114 | 152036217 | Frame-shift |
ENST00000370274 | 152018808 | 152018967 | In-frame |
ENST00000440023 | 152018808 | 152018967 | In-frame |
ENST00000370274 | 152027313 | 152027460 | In-frame |
ENST00000440023 | 152027313 | 152027460 | 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 |
ENST00000440023 | 152000177 | 152000244 | 5UTR-5UTR |
ENST00000370274 | 152036114 | 152036217 | Frame-shift |
ENST00000440023 | 152036114 | 152036217 | Frame-shift |
ENST00000370274 | 152018808 | 152018967 | In-frame |
ENST00000440023 | 152018808 | 152018967 | In-frame |
ENST00000370274 | 152027313 | 152027460 | In-frame |
ENST00000440023 | 152027313 | 152027460 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NSDHL |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000370274 | 1946 | 373 | 152018808 | 152018967 | 303 | 461 | 36 | 89 |
ENST00000440023 | 1647 | 373 | 152018808 | 152018967 | 370 | 528 | 36 | 89 |
ENST00000370274 | 1946 | 373 | 152027313 | 152027460 | 462 | 608 | 89 | 138 |
ENST00000440023 | 1647 | 373 | 152027313 | 152027460 | 529 | 675 | 89 | 138 |
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 |
ENST00000370274 | 1946 | 373 | 152018808 | 152018967 | 303 | 461 | 36 | 89 |
ENST00000440023 | 1647 | 373 | 152018808 | 152018967 | 370 | 528 | 36 | 89 |
ENST00000370274 | 1946 | 373 | 152027313 | 152027460 | 462 | 608 | 89 | 138 |
ENST00000440023 | 1647 | 373 | 152027313 | 152027460 | 529 | 675 | 89 | 138 |
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 |
Q15738 | 36 | 89 | 1 | 373 | Chain | ID=PRO_0000087799;Note=Sterol-4-alpha-carboxylate 3-dehydrogenase%2C decarboxylating |
Q15738 | 36 | 89 | 1 | 373 | Chain | ID=PRO_0000087799;Note=Sterol-4-alpha-carboxylate 3-dehydrogenase%2C decarboxylating |
Q15738 | 89 | 138 | 1 | 373 | Chain | ID=PRO_0000087799;Note=Sterol-4-alpha-carboxylate 3-dehydrogenase%2C decarboxylating |
Q15738 | 89 | 138 | 1 | 373 | Chain | ID=PRO_0000087799;Note=Sterol-4-alpha-carboxylate 3-dehydrogenase%2C decarboxylating |
Q15738 | 89 | 138 | 105 | 105 | Natural variant | ID=VAR_010207;Note=In CHILD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10710235;Dbxref=dbSNP:rs104894909,PMID:10710235 |
Q15738 | 89 | 138 | 105 | 105 | Natural variant | ID=VAR_010207;Note=In CHILD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10710235;Dbxref=dbSNP:rs104894909,PMID:10710235 |
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 |
Q15738 | 36 | 89 | 1 | 373 | Chain | ID=PRO_0000087799;Note=Sterol-4-alpha-carboxylate 3-dehydrogenase%2C decarboxylating |
Q15738 | 36 | 89 | 1 | 373 | Chain | ID=PRO_0000087799;Note=Sterol-4-alpha-carboxylate 3-dehydrogenase%2C decarboxylating |
Q15738 | 89 | 138 | 1 | 373 | Chain | ID=PRO_0000087799;Note=Sterol-4-alpha-carboxylate 3-dehydrogenase%2C decarboxylating |
Q15738 | 89 | 138 | 1 | 373 | Chain | ID=PRO_0000087799;Note=Sterol-4-alpha-carboxylate 3-dehydrogenase%2C decarboxylating |
Q15738 | 89 | 138 | 105 | 105 | Natural variant | ID=VAR_010207;Note=In CHILD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10710235;Dbxref=dbSNP:rs104894909,PMID:10710235 |
Q15738 | 89 | 138 | 105 | 105 | Natural variant | ID=VAR_010207;Note=In CHILD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10710235;Dbxref=dbSNP:rs104894909,PMID:10710235 |
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SNVs in the skipped exons for NSDHL |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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-A1EG-01 | exon_skip_512778 | 152018809 | 152018967 | 152018832 | 152018832 | Frame_Shift_Del | T | - | p.G45fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_512778 | 152018809 | 152018967 | 152018946 | 152018946 | Frame_Shift_Del | G | - | p.L82fs |
BRCA | TCGA-B6-A0I9-01 | exon_skip_512780 | 152036115 | 152036217 | 152036194 | 152036194 | Nonsense_Mutation | C | T | p.R256* |
- 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 |
EN_ENDOMETRIUM | 152018809 | 152018967 | 152018865 | 152018865 | Missense_Mutation | G | T | p.E55D |
JHUEM7_ENDOMETRIUM | 152018809 | 152018967 | 152018940 | 152018940 | Missense_Mutation | C | A | p.F80L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NSDHL |
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 NSDHL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NSDHL |
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RelatedDrugs for NSDHL |
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 NSDHL |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
NSDHL | C0265267 | Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | 3 | CTD_human;ORPHANET;UNIPROT |
NSDHL | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |