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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 TMCC2 |
 Gene summary |
| Gene information | Gene symbol | TMCC2 | Gene ID | 9911 |
| Gene name | transmembrane and coiled-coil domain family 2 | |
| Synonyms | HUCEP11 | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | transmembrane and coiled-coil domains protein 2cerebral protein 11 | |
| Modification date | 20180523 | |
| UniProtAcc | O75069 | |
| Context | PubMed: TMCC2 [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 |
| TMCC2 | GO:0042982 | amyloid precursor protein metabolic process | 21593558 |
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Exon skipping events across known transcript of Ensembl for TMCC2 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 TMCC2 |
| 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 TMCC2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_17105 | 1 | 205210641:205211172:205238077:205239012:205240247:205240383 | 205238077:205239012 | ENSG00000133069.10 | ENST00000358024.3,ENST00000545499.1,ENST00000495538.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMCC2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_17105 | 1 | 205210641:205211172:205238077:205239012:205240247:205240383 | 205238077:205239012 | ENSG00000133069.10 | ENST00000358024.3,ENST00000545499.1,ENST00000495538.1 |
| exon_skip_17107 | 1 | 205225328:205225544:205238077:205239012:205240247:205240383 | 205238077:205239012 | ENSG00000133069.10 | ENST00000329800.7 |
| 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 TMCC2 |
| 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 |
| ENST00000358024 | 205238077 | 205239012 | Frame-shift |
| 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 |
| ENST00000358024 | 205238077 | 205239012 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TMCC2 |
| 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 |
| 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 |
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SNVs in the skipped exons for TMCC2 |
| - 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-DD-A3A0-01 | exon_skip_17105 | 205238078 | 205239012 | 205238607 | 205238607 | Frame_Shift_Del | G | - | p.R426fs |
| PRAD | TCGA-G9-6371-01 | exon_skip_17105 | 205238078 | 205239012 | 205238670 | 205238670 | Frame_Shift_Del | A | - | p.D447fs |
| KIRC | TCGA-B0-5098-01 | exon_skip_17105 | 205238078 | 205239012 | 205238671 | 205238671 | Frame_Shift_Del | C | - | p.D447fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_17105 | 205238078 | 205239012 | 205238687 | 205238687 | Frame_Shift_Del | C | - | p.P453fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_17105 | 205238078 | 205239012 | 205238740 | 205238740 | Frame_Shift_Del | C | - | p.S470fs |
| HNSC | TCGA-CV-7250-01 | exon_skip_17105 | 205238078 | 205239012 | 205238351 | 205238351 | Nonsense_Mutation | C | T | p.Q341* |
| - 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 |
| HEC59_ENDOMETRIUM | 205238078 | 205239012 | 205238173 | 205238173 | Frame_Shift_Del | C | - | p.D281fs |
| ESO51_OESOPHAGUS | 205238078 | 205239012 | 205238708 | 205238709 | In_Frame_Ins | - | CAC | p.460_461insP |
| MCC13_SKIN | 205238078 | 205239012 | 205238135 | 205238135 | Missense_Mutation | G | A | p.G269S |
| CAL148_BREAST | 205238078 | 205239012 | 205238159 | 205238159 | Missense_Mutation | G | A | p.D277N |
| MFE319_ENDOMETRIUM | 205238078 | 205239012 | 205238349 | 205238349 | Missense_Mutation | A | G | p.N340S |
| IGROV1_OVARY | 205238078 | 205239012 | 205238408 | 205238408 | Missense_Mutation | C | T | p.R360C |
| SNU349_KIDNEY | 205238078 | 205239012 | 205238462 | 205238462 | Missense_Mutation | C | T | p.R378W |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 205238078 | 205239012 | 205238553 | 205238553 | Missense_Mutation | G | A | p.G408D |
| SNU1040_LARGE_INTESTINE | 205238078 | 205239012 | 205238556 | 205238556 | Missense_Mutation | G | C | p.S409T |
| DOTC24510_CERVIX | 205238078 | 205239012 | 205238642 | 205238642 | Missense_Mutation | A | T | p.S438C |
| BHY_UPPER_AERODIGESTIVE_TRACT | 205238078 | 205239012 | 205238660 | 205238660 | Missense_Mutation | C | A | p.H444N |
| NB14_AUTONOMIC_GANGLIA | 205238078 | 205239012 | 205238702 | 205238702 | Missense_Mutation | G | T | p.A458S |
| SNUC2A_LARGE_INTESTINE | 205238078 | 205239012 | 205238706 | 205238706 | Missense_Mutation | G | A | p.R459Q |
| SW948_LARGE_INTESTINE | 205238078 | 205239012 | 205238706 | 205238706 | Missense_Mutation | G | A | p.R459Q |
| SNUC2B_LARGE_INTESTINE | 205238078 | 205239012 | 205238706 | 205238706 | Missense_Mutation | G | A | p.R459Q |
| NCIH630_LARGE_INTESTINE | 205238078 | 205239012 | 205238759 | 205238759 | Missense_Mutation | G | C | p.D477H |
| LOVO_LARGE_INTESTINE | 205238078 | 205239012 | 205238819 | 205238819 | Missense_Mutation | C | G | p.P497A |
| 59M_OVARY | 205238078 | 205239012 | 205238826 | 205238826 | Missense_Mutation | G | A | p.G499E |
| CHLA32_BONE | 205238078 | 205239012 | 205238916 | 205238916 | Missense_Mutation | G | A | p.G529E |
| TE5_OESOPHAGUS | 205238078 | 205239012 | 205238933 | 205238933 | Missense_Mutation | G | A | p.D535N |
| A431_SKIN | 205238078 | 205239012 | 205238965 | 205238965 | Missense_Mutation | G | C | p.Q545H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMCC2 |
| 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 TMCC2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMCC2 |
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RelatedDrugs for TMCC2 |
| 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 TMCC2 |
| 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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