|
||||||
|
 | |
| |
| |
| |
| 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 SPAG11B |
 Gene summary |
| Gene information | Gene symbol | SPAG11B | Gene ID | 10407 |
| Gene name | sperm associated antigen 11B | |
| Synonyms | EDDM2B|EP2|EP2C|EP2D|HE2|HE2C|SPAG11 | |
| Cytomap | 8p23.1 | |
| Type of gene | protein-coding | |
| Description | sperm-associated antigen 11Bepididymal protein 2Bhuman epididymis-specific protein 2sperm antigen HE2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q08648 | |
| Context | PubMed: SPAG11B [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 |
Top |
Exon skipping events across known transcript of Ensembl for SPAG11B 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. |
 |
Top |
Gene isoform structures and expression levels for SPAG11B |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for SPAG11B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_487995 | 8 | 7305274:7305571:7308344:7308422:7320228:7320381 | 7308344:7308422 | ENSG00000164871.13 | ENST00000359758.5 |
| exon_skip_487996 | 8 | 7308085:7308422:7308645:7308721:7309780:7309887 | 7308645:7308721 | ENSG00000164871.13 | ENST00000528168.1 |
| exon_skip_487997 | 8 | 7308344:7308422:7308645:7308721:7320228:7320379 | 7308645:7308721 | ENSG00000164871.13 | ENST00000297498.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for SPAG11B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SPAG11B |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for SPAG11B |
| 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 |
Top |
SNVs in the skipped exons for SPAG11B |
| - 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_487996 exon_skip_487997 | 7308646 | 7308721 | 7308660 | 7308660 | Frame_Shift_Del | C | - | p.G92fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_487996 exon_skip_487997 | 7308646 | 7308721 | 7308690 | 7308690 | Frame_Shift_Del | G | - | p.P82fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_487996 exon_skip_487997 | 7308646 | 7308721 | 7308689 | 7308690 | Frame_Shift_Ins | - | G | p.I83fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_487996 exon_skip_487997 | 7308646 | 7308721 | 7308689 | 7308690 | Frame_Shift_Ins | - | G | p.S83fs |
| LUAD | TCGA-55-7907-01 | exon_skip_487996 exon_skip_487997 | 7308646 | 7308721 | 7308656 | 7308656 | Nonsense_Mutation | T | A | p.R94* |
| SKCM | TCGA-YG-AA3N-01 | exon_skip_487996 exon_skip_487997 | 7308646 | 7308721 | 7308698 | 7308698 | Nonsense_Mutation | G | A | p.R80* |
| - 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 |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7308646 | 7308721 | 7308655 | 7308655 | Missense_Mutation | C | G | p.R94T |
| NCIH1963_LUNG | 7308646 | 7308721 | 7308658 | 7308658 | Missense_Mutation | G | T | p.P93H |
| RKO_LARGE_INTESTINE | 7308646 | 7308721 | 7308673 | 7308673 | Missense_Mutation | A | G | p.V88A |
| SAOS2_BONE | 7308646 | 7308721 | 7308682 | 7308682 | Missense_Mutation | C | T | p.R85K |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPAG11B |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPAG11B |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPAG11B |
Top |
RelatedDrugs for SPAG11B |
| 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 |
Top |
RelatedDiseases for SPAG11B |
| 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)
|