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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 TMEM245 |
Gene summary |
| Gene information | Gene symbol | TMEM245 | Gene ID | 23731 |
| Gene name | transmembrane protein 245 | |
| Synonyms | C9orf5|CG-2|CG2 | |
| Cytomap | 9q31.3 | |
| Type of gene | protein-coding | |
| Description | transmembrane protein 245protein CG-2transmembrane protein C9orf5 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H330 | |
| Context | PubMed: TMEM245 [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 TMEM245 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 TMEM245 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TMEM245 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_505551 | 9 | 111782367:111782785:111795586:111795781:111798485:111798660 | 111795586:111795781 | ENSG00000106771.8 | ENST00000374586.3,ENST00000472207.1,ENST00000491854.1,ENST00000413712.2 |
| exon_skip_505553 | 9 | 111798485:111798660:111800296:111800397:111812562:111812708 | 111800296:111800397 | ENSG00000106771.8 | ENST00000374586.3,ENST00000491854.1,ENST00000413712.2 |
| exon_skip_505554 | 9 | 111812849:111812972:111819470:111819602:111822633:111822732 | 111819470:111819602 | ENSG00000106771.8 | ENST00000374586.3,ENST00000491854.1,ENST00000413712.2 |
| exon_skip_505555 | 9 | 111819470:111819602:111822633:111822732:111826756:111826847 | 111822633:111822732 | ENSG00000106771.8 | ENST00000374586.3,ENST00000491854.1,ENST00000413712.2 |
| exon_skip_505556 | 9 | 111826756:111826847:111835527:111835718:111843118:111843223 | 111835527:111835718 | ENSG00000106771.8 | ENST00000491854.1 |
| exon_skip_505557 | 9 | 111826756:111826847:111835635:111835718:111843118:111843223 | 111835635:111835718 | ENSG00000106771.8 | ENST00000374586.3,ENST00000413712.2 |
| exon_skip_505558 | 9 | 111835635:111835718:111843118:111843223:111848276:111848300 | 111843118:111843223 | ENSG00000106771.8 | ENST00000374586.3 |
| exon_skip_505559 | 9 | 111835635:111835718:111843118:111843223:111849452:111849573 | 111843118:111843223 | ENSG00000106771.8 | ENST00000491854.1,ENST00000413712.2 |
| exon_skip_505563 | 9 | 111843118:111843223:111848276:111848300:111849452:111849573 | 111848276:111848300 | ENSG00000106771.8 | ENST00000374586.3 |
| exon_skip_505572 | 9 | 111849452:111849622:111853201:111853435:111855754:111855865 | 111853201:111853435 | ENSG00000106771.8 | ENST00000374586.3,ENST00000491854.1 |
| exon_skip_505579 | 9 | 111853201:111853435:111855754:111855871:111868787:111868889 | 111855754:111855871 | ENSG00000106771.8 | ENST00000374586.3,ENST00000491854.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMEM245 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_505551 | 9 | 111782367:111782785:111795586:111795781:111798485:111798660 | 111795586:111795781 | ENSG00000106771.8 | ENST00000374586.3,ENST00000472207.1,ENST00000413712.2,ENST00000491854.1 |
| exon_skip_505553 | 9 | 111798485:111798660:111800296:111800397:111812562:111812708 | 111800296:111800397 | ENSG00000106771.8 | ENST00000374586.3,ENST00000413712.2,ENST00000491854.1 |
| exon_skip_505554 | 9 | 111812849:111812972:111819470:111819602:111822633:111822732 | 111819470:111819602 | ENSG00000106771.8 | ENST00000374586.3,ENST00000413712.2,ENST00000491854.1 |
| exon_skip_505555 | 9 | 111819470:111819602:111822633:111822732:111826756:111826847 | 111822633:111822732 | ENSG00000106771.8 | ENST00000374586.3,ENST00000413712.2,ENST00000491854.1 |
| exon_skip_505556 | 9 | 111826756:111826847:111835527:111835718:111843118:111843223 | 111835527:111835718 | ENSG00000106771.8 | ENST00000491854.1 |
| exon_skip_505557 | 9 | 111826756:111826847:111835635:111835718:111843118:111843223 | 111835635:111835718 | ENSG00000106771.8 | ENST00000374586.3,ENST00000413712.2 |
| exon_skip_505558 | 9 | 111835635:111835718:111843118:111843223:111848276:111848300 | 111843118:111843223 | ENSG00000106771.8 | ENST00000374586.3 |
| exon_skip_505559 | 9 | 111835635:111835718:111843118:111843223:111849452:111849573 | 111843118:111843223 | ENSG00000106771.8 | ENST00000413712.2,ENST00000491854.1 |
| exon_skip_505563 | 9 | 111843118:111843223:111848276:111848300:111849452:111849573 | 111848276:111848300 | ENSG00000106771.8 | ENST00000374586.3 |
| exon_skip_505572 | 9 | 111849452:111849622:111853201:111853435:111855754:111855865 | 111853201:111853435 | ENSG00000106771.8 | ENST00000374586.3,ENST00000491854.1 |
| exon_skip_505579 | 9 | 111853201:111853435:111855754:111855871:111868787:111868889 | 111855754:111855871 | ENSG00000106771.8 | ENST00000374586.3,ENST00000491854.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TMEM245 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for TMEM245 |
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 TMEM245 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| COAD | TCGA-AM-5820-01 | exon_skip_505553 | 111800297 | 111800397 | 111800329 | 111800330 | Frame_Shift_Del | AT | - | p.731_731del |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_505555 | 111822634 | 111822732 | 111822690 | 111822690 | Frame_Shift_Del | T | - | p.I556fs |
| BLCA | TCGA-LT-A5Z6-01 | exon_skip_505551 | 111795587 | 111795781 | 111795591 | 111795591 | Nonsense_Mutation | G | A | p.Q864* |
| GBM | TCGA-41-6646-01 | exon_skip_505555 | 111822634 | 111822732 | 111822726 | 111822726 | Nonsense_Mutation | T | A | p.K544* |
| KIRP | TCGA-IZ-8195-01 | exon_skip_505572 | 111853202 | 111853435 | 111853340 | 111853340 | Nonsense_Mutation | G | A | p.R338* |
| KIRP | TCGA-IZ-8195-01 | exon_skip_505572 | 111853202 | 111853435 | 111853340 | 111853340 | Nonsense_Mutation | G | A | p.R338X |
| LIHC | TCGA-CC-A5UD-01 | exon_skip_505572 | 111853202 | 111853435 | 111853343 | 111853343 | Nonsense_Mutation | T | A | p.R337* |
| LIHC | TCGA-CC-A5UD-01 | exon_skip_505572 | 111853202 | 111853435 | 111853343 | 111853343 | Nonsense_Mutation | T | A | p.R337X |
- 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 |
| BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111843119 | 111843223 | 111843141 | 111843141 | Frame_Shift_Del | A | - | p.L476fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111795587 | 111795781 | 111795659 | 111795659 | Missense_Mutation | C | T | p.S841N |
| MFE319_ENDOMETRIUM | 111795587 | 111795781 | 111795686 | 111795686 | Missense_Mutation | A | G | p.I832T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 111800297 | 111800397 | 111800328 | 111800328 | Missense_Mutation | C | T | p.M731I |
| HEC108_ENDOMETRIUM | 111800297 | 111800397 | 111800395 | 111800395 | Missense_Mutation | C | A | p.G709V |
| SNU407_LARGE_INTESTINE | 111819471 | 111819602 | 111819553 | 111819553 | Missense_Mutation | C | T | p.R591H |
| SNGM_ENDOMETRIUM | 111819471 | 111819602 | 111819587 | 111819587 | Missense_Mutation | C | T | p.G580R |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111819471 | 111819602 | 111819589 | 111819589 | Missense_Mutation | G | C | p.S579C |
| NCIH128_LUNG | 111819471 | 111819602 | 111819600 | 111819600 | Missense_Mutation | A | C | p.N575K |
| PACADD135_PANCREAS | 111822634 | 111822732 | 111822669 | 111822669 | Missense_Mutation | G | A | p.L563F |
| MDAMB361_BREAST | 111843119 | 111843223 | 111843148 | 111843148 | Missense_Mutation | G | A | p.L474F |
| JHUEM7_ENDOMETRIUM | 111853202 | 111853435 | 111853303 | 111853303 | Missense_Mutation | T | G | p.K350T |
| MFE319_ENDOMETRIUM | 111853202 | 111853435 | 111853405 | 111853405 | Missense_Mutation | G | T | p.T316K |
| LNCAPCLONEFGC_PROSTATE | 111853202 | 111853435 | 111853430 | 111853430 | Missense_Mutation | C | T | p.V308M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM245 |
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 TMEM245 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM245 |
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RelatedDrugs for TMEM245 |
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 TMEM245 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TMEM245 | C0036341 | Schizophrenia | 1 | PSYGENET |