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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 SAMD8 |
 Gene summary |
| Gene information | Gene symbol | SAMD8 | Gene ID | 142891 |
| Gene name | sterile alpha motif domain containing 8 | |
| Synonyms | HEL-177|SMSr | |
| Cytomap | 10q22.2 | |
| Type of gene | protein-coding | |
| Description | sphingomyelin synthase-related protein 1CPE synthaseHEL-S-181mPSAM domain-containing protein 8ceramide phosphoethanolamine synthaseepididymis luminal protein 177epididymis secretory sperm binding protein Li 181mPsphingomyelin synthase relatedsteri | |
| Modification date | 20180523 | |
| UniProtAcc | Q96LT4 | |
| Context | PubMed: SAMD8 [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 |
| SAMD8 | GO:0046513 | ceramide biosynthetic process | 19506037 |
| SAMD8 | GO:2000303 | regulation of ceramide biosynthetic process | 19506037 |
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Exon skipping events across known transcript of Ensembl for SAMD8 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 SAMD8 |
| 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 SAMD8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_42668 | 10 | 76910271:76910864:76924402:76924498:76928298:76928385 | 76924402:76924498 | ENSG00000156671.8 | ENST00000372690.3,ENST00000447533.1,ENST00000542569.1,ENST00000372687.4 |
| exon_skip_42671 | 10 | 76924402:76924498:76928298:76928416:76935823:76935974 | 76928298:76928416 | ENSG00000156671.8 | ENST00000372690.3,ENST00000542569.1,ENST00000372687.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SAMD8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_42668 | 10 | 76910271:76910864:76924402:76924498:76928298:76928385 | 76924402:76924498 | ENSG00000156671.8 | ENST00000447533.1,ENST00000372690.3,ENST00000542569.1,ENST00000372687.4 |
| exon_skip_42671 | 10 | 76924402:76924498:76928298:76928416:76935823:76935974 | 76928298:76928416 | ENSG00000156671.8 | ENST00000372690.3,ENST00000542569.1,ENST00000372687.4 |
| 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 SAMD8 |
| 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 |
| ENST00000542569 | 76928298 | 76928416 | Frame-shift |
| ENST00000542569 | 76924402 | 76924498 | 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 |
| ENST00000542569 | 76928298 | 76928416 | Frame-shift |
| ENST00000542569 | 76924402 | 76924498 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SAMD8 |
| 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 |
| ENST00000542569 | 6799 | 415 | 76924402 | 76924498 | 682 | 777 | 193 | 224 |
| 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 |
| ENST00000542569 | 6799 | 415 | 76924402 | 76924498 | 682 | 777 | 193 | 224 |
| 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 |
| Q96LT4 | 193 | 224 | 1 | 415 | Chain | ID=PRO_0000221080;Note=Sphingomyelin synthase-related protein 1 |
| Q96LT4 | 193 | 224 | 201 | 221 | Transmembrane | Note=Helical;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 |
| Q96LT4 | 193 | 224 | 1 | 415 | Chain | ID=PRO_0000221080;Note=Sphingomyelin synthase-related protein 1 |
| Q96LT4 | 193 | 224 | 201 | 221 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SAMD8 |
| - 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-A1EG-01 | exon_skip_42671 | 76928299 | 76928416 | 76928366 | 76928366 | Frame_Shift_Del | T | - | p.F248fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_42671 | 76928299 | 76928416 | 76928312 | 76928312 | Nonsense_Mutation | C | T | p.R230* |
| PAAD | TCGA-IB-7651-01 | exon_skip_42671 | 76928299 | 76928416 | 76928312 | 76928312 | Nonsense_Mutation | C | T | p.R230X |
| - 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 |
| 22RV1_PROSTATE | 76924403 | 76924498 | 76924416 | 76924416 | Missense_Mutation | C | T | p.P198S |
| HEC59_ENDOMETRIUM | 76924403 | 76924498 | 76924480 | 76924480 | Missense_Mutation | T | C | p.L219P |
| HEC108_ENDOMETRIUM | 76928299 | 76928416 | 76928354 | 76928354 | Missense_Mutation | T | A | p.C244S |
| HEC1A_ENDOMETRIUM | 76924403 | 76924498 | 76924445 | 76924445 | Nonsense_Mutation | T | A | p.C207* |
| HEC1_ENDOMETRIUM | 76924403 | 76924498 | 76924445 | 76924445 | Nonsense_Mutation | T | A | p.C207* |
| HEC1B_ENDOMETRIUM | 76924403 | 76924498 | 76924445 | 76924445 | Nonsense_Mutation | T | A | p.C207* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAMD8 |
| 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 SAMD8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAMD8 |
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RelatedDrugs for SAMD8 |
| 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 SAMD8 |
| 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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