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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 TMEM184B |
 Gene summary |
| Gene information | Gene symbol | TMEM184B | Gene ID | 25829 |
| Gene name | transmembrane protein 184B | |
| Synonyms | C22orf5|FM08|HS5O6A|HSPC256 | |
| Cytomap | 22q13.1 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 184Bputative MAPK-activating protein FM08 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y519 | |
| Context | PubMed: TMEM184B [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 TMEM184B 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 TMEM184B |
| 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 TMEM184B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_369428 | 22 | 38615330:38617717:38620791:38620986:38621430:38621600 | 38620791:38620986 | ENSG00000198792.8 | ENST00000361684.4,ENST00000436674.1,ENST00000361906.3 |
| exon_skip_369433 | 22 | 38620791:38620986:38621430:38621600:38622785:38622877 | 38621430:38621600 | ENSG00000198792.8 | ENST00000361684.4,ENST00000436674.1,ENST00000361906.3 |
| exon_skip_369437 | 22 | 38621526:38621600:38622785:38622877:38626674:38626750 | 38622785:38622877 | ENSG00000198792.8 | ENST00000361684.4,ENST00000436674.1,ENST00000464059.1,ENST00000361906.3 |
| exon_skip_369439 | 22 | 38622810:38622877:38626674:38626750:38627249:38627324 | 38626674:38626750 | ENSG00000198792.8 | ENST00000474416.1,ENST00000403210.1,ENST00000361684.4,ENST00000436674.1,ENST00000464059.1,ENST00000361906.3 |
| exon_skip_369440 | 22 | 38627249:38627340:38641940:38642106:38643775:38644025 | 38641940:38642106 | ENSG00000198792.8 | ENST00000361684.4,ENST00000361906.3 |
| exon_skip_369445 | 22 | 38641940:38642106:38642790:38642891:38643775:38644025 | 38642790:38642891 | ENSG00000198792.8 | ENST00000436674.1 |
| exon_skip_369446 | 22 | 38641940:38642106:38642811:38642891:38643775:38644025 | 38642811:38642891 | ENSG00000198792.8 | ENST00000411679.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMEM184B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_369428 | 22 | 38615330:38617717:38620791:38620986:38621430:38621600 | 38620791:38620986 | ENSG00000198792.8 | ENST00000361906.3,ENST00000436674.1,ENST00000361684.4 |
| exon_skip_369433 | 22 | 38620791:38620986:38621430:38621600:38622785:38622877 | 38621430:38621600 | ENSG00000198792.8 | ENST00000361906.3,ENST00000436674.1,ENST00000361684.4 |
| exon_skip_369437 | 22 | 38621526:38621600:38622785:38622877:38626674:38626750 | 38622785:38622877 | ENSG00000198792.8 | ENST00000361906.3,ENST00000436674.1,ENST00000361684.4,ENST00000464059.1 |
| exon_skip_369439 | 22 | 38622810:38622877:38626674:38626750:38627249:38627324 | 38626674:38626750 | ENSG00000198792.8 | ENST00000361906.3,ENST00000436674.1,ENST00000361684.4,ENST00000464059.1,ENST00000474416.1,ENST00000403210.1 |
| exon_skip_369440 | 22 | 38627249:38627340:38641940:38642106:38643775:38644025 | 38641940:38642106 | ENSG00000198792.8 | ENST00000361906.3,ENST00000361684.4 |
| exon_skip_369445 | 22 | 38641940:38642106:38642790:38642891:38643775:38644025 | 38642790:38642891 | ENSG00000198792.8 | ENST00000436674.1 |
| exon_skip_369446 | 22 | 38641940:38642106:38642811:38642891:38643775:38644025 | 38642811:38642891 | ENSG00000198792.8 | ENST00000411679.1 |
| 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 TMEM184B |
| 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 |
| ENST00000361684 | 38621430 | 38621600 | Frame-shift |
| ENST00000361906 | 38621430 | 38621600 | Frame-shift |
| ENST00000361684 | 38622785 | 38622877 | Frame-shift |
| ENST00000361906 | 38622785 | 38622877 | Frame-shift |
| ENST00000361684 | 38626674 | 38626750 | Frame-shift |
| ENST00000361906 | 38626674 | 38626750 | Frame-shift |
| ENST00000361684 | 38641940 | 38642106 | Frame-shift |
| ENST00000361906 | 38641940 | 38642106 | Frame-shift |
| ENST00000361684 | 38620791 | 38620986 | In-frame |
| ENST00000361906 | 38620791 | 38620986 | 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 |
| ENST00000361684 | 38621430 | 38621600 | Frame-shift |
| ENST00000361906 | 38621430 | 38621600 | Frame-shift |
| ENST00000361684 | 38622785 | 38622877 | Frame-shift |
| ENST00000361906 | 38622785 | 38622877 | Frame-shift |
| ENST00000361684 | 38626674 | 38626750 | Frame-shift |
| ENST00000361906 | 38626674 | 38626750 | Frame-shift |
| ENST00000361684 | 38641940 | 38642106 | Frame-shift |
| ENST00000361906 | 38641940 | 38642106 | Frame-shift |
| ENST00000361684 | 38620791 | 38620986 | In-frame |
| ENST00000361906 | 38620791 | 38620986 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMEM184B |
| 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 |
| ENST00000361684 | 3610 | 407 | 38620791 | 38620986 | 1012 | 1206 | 262 | 327 |
| ENST00000361906 | 3628 | 407 | 38620791 | 38620986 | 997 | 1191 | 262 | 327 |
| 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 |
| ENST00000361684 | 3610 | 407 | 38620791 | 38620986 | 1012 | 1206 | 262 | 327 |
| ENST00000361906 | 3628 | 407 | 38620791 | 38620986 | 997 | 1191 | 262 | 327 |
| 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 |
| Q9Y519 | 262 | 327 | 1 | 407 | Chain | ID=PRO_0000211555;Note=Transmembrane protein 184B |
| Q9Y519 | 262 | 327 | 1 | 407 | Chain | ID=PRO_0000211555;Note=Transmembrane protein 184B |
| Q9Y519 | 262 | 327 | 249 | 269 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y519 | 262 | 327 | 249 | 269 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y519 | 262 | 327 | 290 | 310 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y519 | 262 | 327 | 290 | 310 | 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 |
| Q9Y519 | 262 | 327 | 1 | 407 | Chain | ID=PRO_0000211555;Note=Transmembrane protein 184B |
| Q9Y519 | 262 | 327 | 1 | 407 | Chain | ID=PRO_0000211555;Note=Transmembrane protein 184B |
| Q9Y519 | 262 | 327 | 249 | 269 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y519 | 262 | 327 | 249 | 269 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y519 | 262 | 327 | 290 | 310 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y519 | 262 | 327 | 290 | 310 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for TMEM184B |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_369428 | 38620792 | 38620986 | 38620822 | 38620822 | Frame_Shift_Del | C | - | p.V318fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_369428 | 38620792 | 38620986 | 38620841 | 38620841 | Frame_Shift_Del | C | - | p.R311fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_369428 | 38620792 | 38620986 | 38620884 | 38620884 | Frame_Shift_Del | A | - | p.F297fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_369433 | 38621431 | 38621600 | 38621483 | 38621483 | Frame_Shift_Del | G | - | p.P245fs |
| SKCM | TCGA-XV-A9W5-01 | exon_skip_369437 | 38622786 | 38622877 | 38622793 | 38622793 | Frame_Shift_Del | C | - | p.D204fs |
| BLCA | TCGA-BT-A20W-01 | exon_skip_369439 | 38626675 | 38626750 | 38626692 | 38626692 | Frame_Shift_Del | G | - | p.L170fs |
| - 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 |
| COLO678_LARGE_INTESTINE | 38620792 | 38620986 | 38620892 | 38620893 | Frame_Shift_Ins | - | T | p.Y294fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38620792 | 38620986 | 38620798 | 38620798 | Missense_Mutation | C | T | p.A326T |
| HEC6_ENDOMETRIUM | 38620792 | 38620986 | 38620816 | 38620816 | Missense_Mutation | C | T | p.A320T |
| SLR23_KIDNEY | 38620792 | 38620986 | 38620947 | 38620947 | Missense_Mutation | G | A | p.P276L |
| IM95_STOMACH | 38621431 | 38621600 | 38621467 | 38621467 | Missense_Mutation | T | C | p.M251V |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38626675 | 38626750 | 38626687 | 38626687 | Missense_Mutation | C | A | p.R171S |
| RL952_ENDOMETRIUM | 38641941 | 38642106 | 38642087 | 38642087 | Missense_Mutation | C | T | p.C71Y |
| GOTO_AUTONOMIC_GANGLIA | 38641941 | 38642106 | 38642090 | 38642090 | Missense_Mutation | C | T | p.R70H |
| NB69_AUTONOMIC_GANGLIA | 38641941 | 38642106 | 38642095 | 38642095 | Missense_Mutation | G | T | p.H68Q |
| BT483_BREAST | 38620792 | 38620986 | 38620966 | 38620966 | Nonsense_Mutation | C | A | p.E270* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM184B |
| 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 TMEM184B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM184B |
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RelatedDrugs for TMEM184B |
| 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 TMEM184B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TMEM184B | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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