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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 SAMD9L |
Gene summary |
Gene information | Gene symbol | SAMD9L | Gene ID | 219285 |
Gene name | sterile alpha motif domain containing 9 like | |
Synonyms | ATXPC|C7orf6|DRIF2|UEF1 | |
Cytomap | 7q21.2 | |
Type of gene | protein-coding | |
Description | sterile alpha motif domain-containing protein 9-likeSAM domain-containing protein 9-like | |
Modification date | 20180523 | |
UniProtAcc | Q8IVG5 | |
Context | PubMed: SAMD9L [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 SAMD9L 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 SAMD9L |
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 SAMD9L |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_477143 | 7 | 92774044:92774146:92774697:92774845:92775221:92775353 | 92774697:92774845 | ENSG00000177409.7 | ENST00000446959.1,ENST00000437805.1,ENST00000411955.1 |
exon_skip_477144 | 7 | 92774044:92774146:92774697:92774845:92777506:92777658 | 92774697:92774845 | ENSG00000177409.7 | ENST00000439952.1 |
exon_skip_477157 | 7 | 92774697:92774845:92775221:92775353:92776195:92776459 | 92775221:92775353 | ENSG00000177409.7 | ENST00000437805.1 |
exon_skip_477158 | 7 | 92774697:92774845:92775221:92775353:92776400:92776459 | 92775221:92775353 | ENSG00000177409.7 | ENST00000411955.1 |
exon_skip_477159 | 7 | 92774697:92774845:92775221:92775353:92777506:92777658 | 92775221:92775353 | ENSG00000177409.7 | ENST00000446959.1 |
exon_skip_477172 | 7 | 92775237:92775353:92776195:92776459:92777506:92777658 | 92776195:92776459 | ENSG00000177409.7 | ENST00000437805.1 |
exon_skip_477174 | 7 | 92775237:92775353:92776400:92776459:92777506:92777658 | 92776400:92776459 | ENSG00000177409.7 | ENST00000446033.1,ENST00000411955.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SAMD9L |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_477143 | 7 | 92774044:92774146:92774697:92774845:92775221:92775353 | 92774697:92774845 | ENSG00000177409.7 | ENST00000411955.1,ENST00000437805.1,ENST00000446959.1 |
exon_skip_477144 | 7 | 92774044:92774146:92774697:92774845:92777506:92777658 | 92774697:92774845 | ENSG00000177409.7 | ENST00000439952.1 |
exon_skip_477157 | 7 | 92774697:92774845:92775221:92775353:92776195:92776459 | 92775221:92775353 | ENSG00000177409.7 | ENST00000437805.1 |
exon_skip_477159 | 7 | 92774697:92774845:92775221:92775353:92777506:92777658 | 92775221:92775353 | ENSG00000177409.7 | ENST00000446959.1 |
exon_skip_477172 | 7 | 92775237:92775353:92776195:92776459:92777506:92777658 | 92776195:92776459 | ENSG00000177409.7 | ENST00000437805.1 |
exon_skip_477174 | 7 | 92775237:92775353:92776400:92776459:92777506:92777658 | 92776400:92776459 | ENSG00000177409.7 | ENST00000411955.1,ENST00000446033.1 |
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 SAMD9L |
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 |
ENST00000411955 | 92774697 | 92774845 | 3UTR-3UTR |
ENST00000437805 | 92774697 | 92774845 | 3UTR-3UTR |
ENST00000411955 | 92775221 | 92775353 | 3UTR-3UTR |
ENST00000437805 | 92775221 | 92775353 | 3UTR-3UTR |
ENST00000437805 | 92776195 | 92776459 | 3UTR-3UTR |
ENST00000411955 | 92776400 | 92776459 | 3UTR-3UTR |
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 |
ENST00000411955 | 92774697 | 92774845 | 3UTR-3UTR |
ENST00000437805 | 92774697 | 92774845 | 3UTR-3UTR |
ENST00000437805 | 92775221 | 92775353 | 3UTR-3UTR |
ENST00000437805 | 92776195 | 92776459 | 3UTR-3UTR |
ENST00000411955 | 92776400 | 92776459 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for SAMD9L |
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 |
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 SAMD9L |
- 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 |
- 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAMD9L |
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 SAMD9L |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAMD9L |
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RelatedDrugs for SAMD9L |
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 SAMD9L |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
SAMD9L | C1327919 | Myelocerebellar Disorder | 1 | ORPHANET;UNIPROT |