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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for TMEM68 |
 Gene summary |
| Gene information | Gene symbol | TMEM68 | Gene ID | 137695 |
| Gene name | transmembrane protein 68 | |
| Synonyms | - | |
| Cytomap | 8q12.1 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 68 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for TMEM68 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000167904
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000517576.5 | TMEM68-203:nonsense_mediated_decay:TMEM68 | 9.247508e+00 | 8.431165e-01 | 7.610693e-05 | 5.884684e-04 |
| CB | UP | ENST00000522090.5 | TMEM68-211:protein_coding:TMEM68 | 1.073104e+01 | 1.164115e+00 | 1.492611e-02 | 4.808732e-02 |
| TC | DOWN | ENST00000519460.1 | TMEM68-204:retained_intron:TMEM68 | 1.358825e+01 | -8.200818e-01 | 1.270477e-03 | 1.186032e-02 |
| TC | DOWN | ENST00000617782.4 | TMEM68-218:protein_coding:TMEM68 | 9.325467e+01 | -9.322170e-01 | 4.190677e-03 | 2.932706e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TMEM68 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_100302 | chr8 | 55756244:55756411:55762635:55763028:55763936:55763980 | 55762635:55763028 |
| exon_skip_114105 | chr8 | 55740172:55740218:55743481:55743620:55745061:55745121 | 55743481:55743620 |
| exon_skip_145884 | chr8 | 55743481:55743620:55745061:55745121:55750964:55751134 | 55745061:55745121 |
| exon_skip_14734 | chr8 | 55762954:55763028:55763936:55763980:55773269:55773307 | 55763936:55763980 |
| exon_skip_149924 | chr8 | 55740172:55740218:55745061:55745121:55750964:55751134 | 55745061:55745121 |
| exon_skip_158019 | chr8 | 55756244:55756411:55763936:55763980:55773269:55773334 | 55763936:55763980 |
| exon_skip_178728 | chr8 | 55762954:55763028:55763422:55763701:55763936:55763980 | 55763422:55763701 |
| exon_skip_185209 | chr8 | 55756358:55756411:55762635:55763028:55763936:55763980 | 55762635:55763028 |
| exon_skip_186789 | chr8 | 55756395:55756411:55763936:55763980:55773269:55773334 | 55763936:55763980 |
| exon_skip_211851 | chr8 | 55762954:55763028:55763637:55763701:55763936:55763980 | 55763637:55763701 |
| exon_skip_228277 | chr8 | 55740172:55740218:55743481:55743620:55750964:55751157 | 55743481:55743620 |
| exon_skip_23258 | chr8 | 55740172:55740218:55743481:55743620:55750964:55751134 | 55743481:55743620 |
| exon_skip_258940 | chr8 | 55751051:55751157:55756244:55756411:55762635:55762734 | 55756244:55756411 |
| exon_skip_40823 | chr8 | 55739701:55740218:55743481:55743620:55750964:55751157 | 55743481:55743620 |
| exon_skip_68321 | chr8 | 55743481:55743620:55745061:55745121:55750964:55751157 | 55745061:55745121 |
| exon_skip_83151 | chr8 | 55751051:55751157:55756244:55756411:55762635:55763008 | 55756244:55756411 |
| exon_skip_90648 | chr8 | 55756395:55756411:55762635:55763028:55763936:55763980 | 55762635:55763028 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for TMEM68 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000434581 | 55762635 | 55763028 | 3UTR-3CDS |
| ENST00000617782 | 55762635 | 55763028 | 3UTR-3CDS |
| ENST00000434581 | 55743481 | 55743620 | Frame-shift |
| ENST00000617782 | 55743481 | 55743620 | Frame-shift |
| ENST00000434581 | 55745061 | 55745121 | Frame-shift |
| ENST00000617782 | 55745061 | 55745121 | Frame-shift |
| ENST00000434581 | 55756244 | 55756411 | In-frame |
| ENST00000617782 | 55756244 | 55756411 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000434581 | 55762635 | 55763028 | 3UTR-3CDS |
| ENST00000617782 | 55762635 | 55763028 | 3UTR-3CDS |
| ENST00000434581 | 55743481 | 55743620 | Frame-shift |
| ENST00000617782 | 55743481 | 55743620 | Frame-shift |
| ENST00000434581 | 55745061 | 55745121 | Frame-shift |
| ENST00000617782 | 55745061 | 55745121 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000434581 | 55762635 | 55763028 | 3UTR-3CDS |
| ENST00000617782 | 55762635 | 55763028 | 3UTR-3CDS |
| ENST00000434581 | 55763936 | 55763980 | 3UTR-3UTR |
| ENST00000434581 | 55743481 | 55743620 | Frame-shift |
| ENST00000617782 | 55743481 | 55743620 | Frame-shift |
| ENST00000434581 | 55745061 | 55745121 | Frame-shift |
| ENST00000617782 | 55745061 | 55745121 | Frame-shift |
| ENST00000434581 | 55756244 | 55756411 | In-frame |
| ENST00000617782 | 55756244 | 55756411 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMEM68 |
p-ENSG00000167904_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000434581 | 2566 | 324 | 55756244 | 55756411 | 526 | 692 | 108 | 164 |
| ENST00000617782 | 2494 | 324 | 55756244 | 55756411 | 440 | 606 | 108 | 164 |
| Loci of skipped exons in MSBB 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 Mayo 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 |
| ENST00000434581 | 2566 | 324 | 55756244 | 55756411 | 526 | 692 | 108 | 164 |
| ENST00000617782 | 2494 | 324 | 55756244 | 55756411 | 440 | 606 | 108 | 164 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q96MH6 | 108 | 164 | 110 | 135 | Alternative sequence | ID=VSP_021244;Note=In isoform 3. YEVHGMEKIPEDGPALIIFYHGAIPI->KQGYFHLCVAIHVCCIGTVLPFHFID;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96MH6 | 108 | 164 | 110 | 135 | Alternative sequence | ID=VSP_021244;Note=In isoform 3. YEVHGMEKIPEDGPALIIFYHGAIPI->KQGYFHLCVAIHVCCIGTVLPFHFID;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96MH6 | 108 | 164 | 136 | 324 | Alternative sequence | ID=VSP_021245;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96MH6 | 108 | 164 | 136 | 324 | Alternative sequence | ID=VSP_021245;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96MH6 | 108 | 164 | 1 | 324 | Chain | ID=PRO_0000254592;Note=Transmembrane protein 68 |
| Q96MH6 | 108 | 164 | 1 | 324 | Chain | ID=PRO_0000254592;Note=Transmembrane protein 68 |
| Q96MH6 | 108 | 164 | 126 | 146 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96MH6 | 108 | 164 | 126 | 146 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| Q96MH6 | 108 | 164 | 110 | 135 | Alternative sequence | ID=VSP_021244;Note=In isoform 3. YEVHGMEKIPEDGPALIIFYHGAIPI->KQGYFHLCVAIHVCCIGTVLPFHFID;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96MH6 | 108 | 164 | 110 | 135 | Alternative sequence | ID=VSP_021244;Note=In isoform 3. YEVHGMEKIPEDGPALIIFYHGAIPI->KQGYFHLCVAIHVCCIGTVLPFHFID;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96MH6 | 108 | 164 | 136 | 324 | Alternative sequence | ID=VSP_021245;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96MH6 | 108 | 164 | 136 | 324 | Alternative sequence | ID=VSP_021245;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96MH6 | 108 | 164 | 1 | 324 | Chain | ID=PRO_0000254592;Note=Transmembrane protein 68 |
| Q96MH6 | 108 | 164 | 1 | 324 | Chain | ID=PRO_0000254592;Note=Transmembrane protein 68 |
| Q96MH6 | 108 | 164 | 126 | 146 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96MH6 | 108 | 164 | 126 | 146 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TMEM68 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000434581 | 55763936 | 55763980 | hsa-miR-1302 | chr8:55763956-55763963 | 8mer-1a | chr8:55763943-55763964 | 160.00 | -23.53 |
| Mayo | ENST00000434581 | 55763936 | 55763980 | hsa-miR-3122 | chr8:55763957-55763964 | 8mer-1a | chr8:55763943-55763964 | 160.00 | -23.53 |
| Mayo | ENST00000434581 | 55763936 | 55763980 | hsa-miR-4298 | chr8:55763956-55763963 | 8mer-1a | chr8:55763943-55763964 | 160.00 | -23.53 |
| Mayo | ENST00000434581 | 55763936 | 55763980 | hsa-miR-3913-5p | chr8:55763957-55763964 | 8mer-1a | chr8:55763943-55763964 | 160.00 | -23.53 |
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SNVs in the skipped exons for TMEM68 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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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AD stage-associated exon skippint events for TMEM68 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM68 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for TMEM68 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | FUBP1 | exon_skip_145884 | -4.006052e-01 | 4.961150e-07 |
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RelatedDrugs for TMEM68 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TMEM68 |
| 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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