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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 TMEM41A |
 Gene summary |
| Gene information | Gene symbol | TMEM41A | Gene ID | 90407 |
| Gene name | transmembrane protein 41A | |
| Synonyms | 2900010K02Rik | |
| Cytomap | 3q27.2 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 41A | |
| Modification date | 20180519 | |
| UniProtAcc | Q96HV5 | |
| Context | PubMed: TMEM41A [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 TMEM41A 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 TMEM41A |
| 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 TMEM41A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390596 | 3 | 185200458:185200928:185201092:185201188:185206732:185206804 | 185201092:185201188 | ENSG00000163900.6 | ENST00000484062.1 |
| exon_skip_390604 | 3 | 185208784:185209545:185212410:185212549:185212941:185213103 | 185212410:185212549 | ENSG00000163900.6 | ENST00000421852.1 |
| exon_skip_390607 | 3 | 185212410:185212549:185212941:185213103:185214615:185214769 | 185212941:185213103 | ENSG00000163900.6 | ENST00000421852.1,ENST00000475480.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMEM41A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_390596 | 3 | 185200458:185200928:185201092:185201188:185206732:185206804 | 185201092:185201188 | ENSG00000163900.6 | ENST00000484062.1 |
| exon_skip_390604 | 3 | 185208784:185209545:185212410:185212549:185212941:185213103 | 185212410:185212549 | ENSG00000163900.6 | ENST00000421852.1 |
| exon_skip_390607 | 3 | 185212410:185212549:185212941:185213103:185214615:185214769 | 185212941:185213103 | ENSG00000163900.6 | ENST00000475480.1,ENST00000421852.1 |
| 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 TMEM41A |
| 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 |
| ENST00000421852 | 185212410 | 185212549 | Frame-shift |
| ENST00000421852 | 185212941 | 185213103 | 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 |
| ENST00000421852 | 185212410 | 185212549 | Frame-shift |
| ENST00000421852 | 185212941 | 185213103 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMEM41A |
| 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 |
| ENST00000421852 | 2844 | 264 | 185212941 | 185213103 | 370 | 531 | 91 | 145 |
| 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 |
| ENST00000421852 | 2844 | 264 | 185212941 | 185213103 | 370 | 531 | 91 | 145 |
| 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 |
| Q96HV5 | 91 | 145 | 18 | 264 | Chain | ID=PRO_0000271775;Note=Transmembrane protein 41A |
| Q96HV5 | 91 | 145 | 96 | 207 | Region | Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:30093494;Dbxref=PMID:30093494 |
| Q96HV5 | 91 | 145 | 100 | 122 | 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 |
| Q96HV5 | 91 | 145 | 18 | 264 | Chain | ID=PRO_0000271775;Note=Transmembrane protein 41A |
| Q96HV5 | 91 | 145 | 96 | 207 | Region | Note=VTT domain;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:30093494;Dbxref=PMID:30093494 |
| Q96HV5 | 91 | 145 | 100 | 122 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for TMEM41A |
| - 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 |
| STAD | TCGA-BR-6452-01 | exon_skip_390604 | 185212411 | 185212549 | 185212518 | 185212518 | Frame_Shift_Del | A | - | p.F156fs |
| STAD | TCGA-BR-8078-01 | exon_skip_390604 | 185212411 | 185212549 | 185212518 | 185212518 | Frame_Shift_Del | A | - | p.F156fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_390604 | 185212411 | 185212549 | 185212518 | 185212518 | Frame_Shift_Del | A | - | p.F156fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_390604 | 185212411 | 185212549 | 185212518 | 185212518 | Frame_Shift_Del | A | - | p.F156fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_390604 | 185212411 | 185212549 | 185212518 | 185212518 | Frame_Shift_Del | A | - | p.F156fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_390604 | 185212411 | 185212549 | 185212518 | 185212518 | Frame_Shift_Del | A | - | p.F156fs |
| HNSC | TCGA-CV-7103-01 | exon_skip_390604 | 185212411 | 185212549 | 185212517 | 185212518 | Frame_Shift_Ins | - | A | p.F156fs |
| LGG | TCGA-R8-A6MK-01 | exon_skip_390604 | 185212411 | 185212549 | 185212517 | 185212518 | Frame_Shift_Ins | - | A | p.F156fs |
| UCEC | TCGA-A5-A0GA-01 | exon_skip_390604 | 185212411 | 185212549 | 185212517 | 185212518 | Frame_Shift_Ins | - | A | p.F156fs |
| STAD | TCGA-BR-8487-01 | exon_skip_390604 | 185212411 | 185212549 | 185212518 | 185212519 | Frame_Shift_Ins | - | A | p.F156fs |
| STAD | TCGA-CG-5726-01 | exon_skip_390604 | 185212411 | 185212549 | 185212518 | 185212519 | Frame_Shift_Ins | - | A | p.F156fs |
| - 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 |
| PATU8988T_PANCREAS | 185212411 | 185212549 | 185212517 | 185212518 | Frame_Shift_Ins | - | A | p.F156fs |
| PATU8988S_PANCREAS | 185212411 | 185212549 | 185212517 | 185212518 | Frame_Shift_Ins | - | A | p.F156fs |
| ESS1_ENDOMETRIUM | 185212411 | 185212549 | 185212430 | 185212430 | Missense_Mutation | G | T | p.F185L |
| KM12_LARGE_INTESTINE | 185212411 | 185212549 | 185212525 | 185212525 | Missense_Mutation | A | C | p.F154V |
| NCIH524_LUNG | 185212942 | 185213103 | 185212948 | 185212948 | Missense_Mutation | C | A | p.Q143H |
| RH30_SOFT_TISSUE | 185212942 | 185213103 | 185212970 | 185212970 | Missense_Mutation | G | C | p.P136R |
| TE11_OESOPHAGUS | 185212942 | 185213103 | 185213031 | 185213031 | Missense_Mutation | C | A | p.A116S |
| NCIH835_LUNG | 185212942 | 185213103 | 185213083 | 185213083 | Missense_Mutation | C | A | p.L98F |
| CCFSTTG1_CENTRAL_NERVOUS_SYSTEM | 185212942 | 185213103 | 185213088 | 185213088 | Missense_Mutation | C | T | p.A97T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM41A |
| 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 TMEM41A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM41A |
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RelatedDrugs for TMEM41A |
| 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 TMEM41A |
| 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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