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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 SPAG11A |
 Gene summary |
| Gene information | Gene symbol | SPAG11A | Gene ID | 653423 |
| Gene name | sperm associated antigen 11A | |
| Synonyms | EDDM2A|HE2 | |
| Cytomap | 8p23.1 | |
| Type of gene | protein-coding | |
| Description | sperm-associated antigen 11Aepididymal protein 2Ahuman epididymis-specific protein 2sperm antigen HE2 | |
| Modification date | 20180529 | |
| UniProtAcc | Q6PDA7 | |
| Context | PubMed: SPAG11A [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 SPAG11A 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 SPAG11A |
| 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 SPAG11A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_481048 | 8 | 7706214:7706365:7717868:7717944:7718167:7718245 | 7717868:7717944 | ENSG00000178287.13 | ENST00000434307.2 |
| exon_skip_481049 | 8 | 7706212:7706365:7718167:7718245:7721022:7721319 | 7718167:7718245 | ENSG00000178287.13 | ENST00000326558.5 |
| exon_skip_481050 | 8 | 7716699:7716807:7717868:7717944:7718167:7718504 | 7717868:7717944 | ENSG00000178287.13 | ENST00000454911.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SPAG11A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_481048 | 8 | 7706214:7706365:7717868:7717944:7718167:7718245 | 7717868:7717944 | ENSG00000178287.13 | ENST00000434307.2 |
| 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 SPAG11A |
| 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 SPAG11A |
| 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 SPAG11A |
| - 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-A39Y-01 | exon_skip_481050 exon_skip_481048 | 7717869 | 7717944 | 7717922 | 7717922 | Frame_Shift_Del | T | - | p.F90fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_481049 | 7718168 | 7718245 | 7718228 | 7718228 | Frame_Shift_Del | T | - | p.L92fs |
| STAD | TCGA-BR-4368-01 | exon_skip_481049 | 7718168 | 7718245 | 7718228 | 7718228 | Frame_Shift_Del | T | - | p.L92fs |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_481050 exon_skip_481048 | 7717869 | 7717944 | 7717892 | 7717892 | Nonsense_Mutation | C | T | p.R80* |
| BRCA | TCGA-BH-A1FR-01 | exon_skip_481049 | 7718168 | 7718245 | 7718209 | 7718209 | Nonsense_Mutation | C | T | p.Q86* |
| - 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 |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7718168 | 7718245 | 7718228 | 7718228 | Frame_Shift_Del | T | - | p.L92fs |
| GMEL_SKIN | 7717869 | 7717944 | 7717896 | 7717896 | Missense_Mutation | G | T | p.G81V |
| SNU61_LARGE_INTESTINE | 7718168 | 7718245 | 7718176 | 7718176 | Missense_Mutation | C | T | p.S100F |
| MEWO_SKIN | 7718168 | 7718245 | 7718182 | 7718182 | Missense_Mutation | G | A | p.G102E |
| NCIH520_LUNG | 7718168 | 7718245 | 7718186 | 7718186 | Missense_Mutation | T | A | p.N103K |
| SW684_SOFT_TISSUE | 7718168 | 7718245 | 7718190 | 7718190 | Missense_Mutation | A | C | p.R79S |
| SNU1040_LARGE_INTESTINE | 7718168 | 7718245 | 7718195 | 7718195 | Missense_Mutation | C | T | p.T81I |
| HCC78_LUNG | 7718168 | 7718245 | 7718206 | 7718206 | Missense_Mutation | A | G | p.M85V |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7718168 | 7718245 | 7718222 | 7718222 | Missense_Mutation | G | T | p.C90F |
| MG63_BONE | 7717869 | 7717944 | 7717895 | 7717895 | Nonsense_Mutation | G | T | p.G81* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPAG11A |
| 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 SPAG11A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPAG11A |
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RelatedDrugs for SPAG11A |
| 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 SPAG11A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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