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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 TMBIM1 |
 Gene summary |
| Gene information | Gene symbol | TMBIM1 | Gene ID | 64114 |
| Gene name | transmembrane BAX inhibitor motif containing 1 | |
| Synonyms | LFG3|MST100|MSTP100|PP1201|RECS1 | |
| Cytomap | 2q35 | |
| Type of gene | protein-coding | |
| Description | protein lifeguard 3transmembrane BAX inhibitor motif-containing protein 1 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R472, A0A1D5RMQ2, B3KSM0, | |
| 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 TMBIM1 |
| 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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ENSG00000135926
| 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 |
| DLPFC | DOWN | ENST00000429501.5 | TMBIM1-207:protein_coding:TMBIM1 | 4.191572e+00 | -9.595789e-01 | 6.733308e-04 | 2.595682e-02 |
| PCC | DOWN | ENST00000429501.5 | TMBIM1-207:protein_coding:TMBIM1 | 7.578812e+00 | -1.100466e+00 | 3.522056e-04 | 1.319233e-02 |
| PG | UP | ENST00000396809.6 | TMBIM1-202:protein_coding:TMBIM1 | 1.435781e+01 | 2.262439e+00 | 1.571404e-03 | 2.013745e-02 |
| TC | UP | ENST00000445635.5 | TMBIM1-215:protein_coding:TMBIM1 | 3.572442e+01 | 1.732260e+00 | 3.630893e-04 | 4.470161e-03 |
| 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 TMBIM1 |
| 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_107805 | chr2 | 218277935:218277974:218278515:218278565:218279038:218279091 | 218278515:218278565 |
| exon_skip_114583 | chr2 | 218282118:218282181:218284039:218284266:218292466:218292503 | 218284039:218284266 |
| exon_skip_11918 | chr2 | 218282118:218282181:218285763:218285938:218292466:218292503 | 218285763:218285938 |
| exon_skip_120955 | chr2 | 218277633:218277670:218277935:218277974:218278515:218278565 | 218277935:218277974 |
| exon_skip_132736 | chr2 | 218282118:218282181:218285763:218285938:218289966:218289994 | 218285763:218285938 |
| exon_skip_147281 | chr2 | 218277004:218277099:218277366:218277453:218277633:218277670 | 218277366:218277453 |
| exon_skip_154111 | chr2 | 218279039:218279091:218279289:218279353:218280026:218280126 | 218279289:218279353 |
| exon_skip_162550 | chr2 | 218282118:218282181:218284039:218284136:218292466:218292534 | 218284039:218284136 |
| exon_skip_222719 | chr2 | 218279038:218279091:218279289:218279353:218280026:218280126 | 218279289:218279353 |
| exon_skip_238255 | chr2 | 218284039:218284136:218285763:218285938:218292466:218292503 | 218285763:218285938 |
| exon_skip_25433 | chr2 | 218282118:218282181:218284039:218284136:218292466:218292503 | 218284039:218284136 |
| exon_skip_273745 | chr2 | 218282118:218282181:218285763:218285934:218292466:218292503 | 218285763:218285934 |
| exon_skip_281697 | chr2 | 218282118:218282181:218284039:218284136:218285763:218285934 | 218284039:218284136 |
| exon_skip_291963 | chr2 | 218275432:218275621:218276026:218276079:218277004:218277099 | 218276026:218276079 |
| exon_skip_33240 | chr2 | 218280026:218280126:218281940:218282181:218292466:218292513 | 218281940:218282181 |
| exon_skip_33989 | chr2 | 218282118:218282181:218284039:218284160:218292466:218292513 | 218284039:218284160 |
| exon_skip_35740 | chr2 | 218278536:218278565:218279038:218279091:218279289:218279353 | 218279038:218279091 |
| exon_skip_4116 | chr2 | 218282118:218282181:218284039:218284160:218292466:218292503 | 218284039:218284160 |
| exon_skip_62482 | chr2 | 218282118:218282181:218285763:218285934:218292466:218292535 | 218285763:218285934 |
| exon_skip_62718 | chr2 | 218282118:218282181:218285763:218285938:218287207:218287291 | 218285763:218285938 |
| exon_skip_79366 | chr2 | 218282118:218282181:218284039:218284136:218285763:218285938 | 218284039:218284136 |
| 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 TMBIM1 |
| 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 |
| ENST00000258412 | 218277366 | 218277453 | Frame-shift |
| ENST00000396809 | 218277366 | 218277453 | Frame-shift |
| ENST00000444881 | 218277366 | 218277453 | Frame-shift |
| ENST00000258412 | 218277935 | 218277974 | Frame-shift |
| ENST00000396809 | 218277935 | 218277974 | Frame-shift |
| ENST00000444881 | 218277935 | 218277974 | Frame-shift |
| ENST00000258412 | 218279289 | 218279353 | Frame-shift |
| ENST00000396809 | 218279289 | 218279353 | Frame-shift |
| ENST00000444881 | 218279289 | 218279353 | Frame-shift |
| ENST00000258412 | 218276026 | 218276079 | In-frame |
| ENST00000396809 | 218276026 | 218276079 | In-frame |
| ENST00000444881 | 218276026 | 218276079 | In-frame |
| ENST00000258412 | 218278515 | 218278565 | In-frame |
| ENST00000396809 | 218278515 | 218278565 | In-frame |
| ENST00000444881 | 218278515 | 218278565 | 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 |
| ENST00000258412 | 218277366 | 218277453 | Frame-shift |
| ENST00000396809 | 218277366 | 218277453 | Frame-shift |
| ENST00000444881 | 218277366 | 218277453 | Frame-shift |
| ENST00000258412 | 218277935 | 218277974 | Frame-shift |
| ENST00000396809 | 218277935 | 218277974 | Frame-shift |
| ENST00000444881 | 218277935 | 218277974 | 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 |
| ENST00000258412 | 218277366 | 218277453 | Frame-shift |
| ENST00000396809 | 218277366 | 218277453 | Frame-shift |
| ENST00000444881 | 218277366 | 218277453 | Frame-shift |
| ENST00000258412 | 218277935 | 218277974 | Frame-shift |
| ENST00000396809 | 218277935 | 218277974 | Frame-shift |
| ENST00000444881 | 218277935 | 218277974 | Frame-shift |
| ENST00000258412 | 218279289 | 218279353 | Frame-shift |
| ENST00000396809 | 218279289 | 218279353 | Frame-shift |
| ENST00000444881 | 218279289 | 218279353 | Frame-shift |
| ENST00000258412 | 218279038 | 218279091 | In-frame |
| ENST00000396809 | 218279038 | 218279091 | In-frame |
| ENST00000444881 | 218279038 | 218279091 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMBIM1 |
p-ENSG00000135926_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 |
| ENST00000258412 | 2388 | 311 | 218278515 | 218278565 | 575 | 624 | 141 | 157 |
| ENST00000396809 | 2439 | 311 | 218278515 | 218278565 | 635 | 684 | 141 | 157 |
| ENST00000444881 | 2953 | 311 | 218278515 | 218278565 | 1149 | 1198 | 141 | 157 |
| ENST00000258412 | 2388 | 311 | 218276026 | 218276079 | 888 | 940 | 245 | 262 |
| ENST00000396809 | 2439 | 311 | 218276026 | 218276079 | 948 | 1000 | 245 | 262 |
| ENST00000444881 | 2953 | 311 | 218276026 | 218276079 | 1462 | 1514 | 245 | 262 |
| 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 |
| ENST00000258412 | 2388 | 311 | 218279038 | 218279091 | 521 | 573 | 123 | 140 |
| ENST00000396809 | 2439 | 311 | 218279038 | 218279091 | 581 | 633 | 123 | 140 |
| ENST00000444881 | 2953 | 311 | 218279038 | 218279091 | 1095 | 1147 | 123 | 140 |
| 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 |
| Q969X1 | 141 | 157 | 1 | 311 | Chain | ID=PRO_0000179090;Note=Protein lifeguard 3 |
| Q969X1 | 141 | 157 | 1 | 311 | Chain | ID=PRO_0000179090;Note=Protein lifeguard 3 |
| Q969X1 | 141 | 157 | 1 | 311 | Chain | ID=PRO_0000179090;Note=Protein lifeguard 3 |
| Q969X1 | 141 | 157 | 134 | 154 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 141 | 157 | 134 | 154 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 141 | 157 | 134 | 154 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 245 | 262 | 1 | 311 | Chain | ID=PRO_0000179090;Note=Protein lifeguard 3 |
| Q969X1 | 245 | 262 | 1 | 311 | Chain | ID=PRO_0000179090;Note=Protein lifeguard 3 |
| Q969X1 | 245 | 262 | 1 | 311 | Chain | ID=PRO_0000179090;Note=Protein lifeguard 3 |
| Q969X1 | 245 | 262 | 246 | 266 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 245 | 262 | 246 | 266 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 245 | 262 | 246 | 266 | 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 |
| Q969X1 | 123 | 140 | 1 | 311 | Chain | ID=PRO_0000179090;Note=Protein lifeguard 3 |
| Q969X1 | 123 | 140 | 1 | 311 | Chain | ID=PRO_0000179090;Note=Protein lifeguard 3 |
| Q969X1 | 123 | 140 | 1 | 311 | Chain | ID=PRO_0000179090;Note=Protein lifeguard 3 |
| Q969X1 | 123 | 140 | 110 | 130 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 123 | 140 | 110 | 130 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 123 | 140 | 110 | 130 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 123 | 140 | 134 | 154 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 123 | 140 | 134 | 154 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969X1 | 123 | 140 | 134 | 154 | 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 TMBIM1 |
| 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 |
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SNVs in the skipped exons for TMBIM1 |
| - 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 TMBIM1 |
| 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 TMBIM1 |
| 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 TMBIM1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for TMBIM1 |
| 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 TMBIM1 |
| 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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