|
||||||
|
 | |
| |
| |
| |
| 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 TMEM127 |
 Gene summary |
| Gene information | Gene symbol | TMEM127 | Gene ID | 55654 |
| Gene name | transmembrane protein 127 | |
| Synonyms | - | |
| Cytomap | 2q11.2 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 127 | |
| Modification date | 20180519 | |
| UniProtAcc | O75204 | |
| Context | PubMed: TMEM127 [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 TMEM127 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 TMEM127 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TMEM127 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_341756 | 2 | 96920570:96920735:96930875:96931227:96931606:96931732 | 96930875:96931227 | ENSG00000135956.4 | ENST00000432959.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TMEM127 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_341756 | 2 | 96920570:96920735:96930875:96931227:96931606:96931732 | 96930875:96931227 | ENSG00000135956.4 | ENST00000432959.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TMEM127 |
| 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 |
| ENST00000432959 | 96930875 | 96931227 | 3UTR-3CDS |
| 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 |
| ENST00000432959 | 96930875 | 96931227 | 3UTR-3CDS |
Top |
Infer the effects of exon skipping event on protein functional features for TMEM127 |
| 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 TMEM127 |
| - 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_341756 | 96930876 | 96931227 | 96930918 | 96930918 | Frame_Shift_Del | C | - | p.V68fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_341756 | 96930876 | 96931227 | 96930918 | 96930918 | Frame_Shift_Del | C | - | p.V68fs |
| - 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 |
| KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96930876 | 96931227 | 96930890 | 96930890 | Missense_Mutation | G | A | p.P77L |
| UACC893_BREAST | 96930876 | 96931227 | 96930927 | 96930927 | Missense_Mutation | C | G | p.E65Q |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96930876 | 96931227 | 96931032 | 96931032 | Missense_Mutation | T | C | p.S30G |
| A101D_SKIN | 96930876 | 96931227 | 96931032 | 96931032 | Missense_Mutation | T | C | p.S30G |
| HS294T_SKIN | 96930876 | 96931227 | 96931032 | 96931032 | Missense_Mutation | T | C | p.S30G |
| NCIH1568_LUNG | 96930876 | 96931227 | 96930927 | 96930927 | Nonsense_Mutation | C | A | p.E65* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM127 |
| 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 TMEM127 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM127 |
Top |
RelatedDrugs for TMEM127 |
| 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 TMEM127 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TMEM127 | C0031511 | Pheochromocytoma | 2 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|