|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for C6orf118 |
 Gene summary |
| Gene information | Gene symbol | C6orf118 | Gene ID | 168090 |
| Gene name | chromosome 6 open reading frame 118 | |
| Synonyms | bA85G2.1|dJ416F21.2 | |
| Cytomap | 6q27 | |
| Type of gene | protein-coding | |
| Description | uncharacterized protein C6orf118dJ416F21.2 (novel protein) | |
| Modification date | 20180519 | |
| UniProtAcc | Q5T5N4 | |
| Context | PubMed: C6orf118 [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 |
Top |
Exon skipping events across known transcript of Ensembl for C6orf118 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. |
 |
Top |
Gene isoform structures and expression levels for C6orf118 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for C6orf118 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_463265 | 6 | 165693521:165693599:165694969:165695025:165695128:165695182 | 165694969:165695025 | ENSG00000112539.10 | ENST00000491176.1,ENST00000494696.2 |
| exon_skip_463269 | 6 | 165711465:165711590:165712931:165712991:165713852:165713975 | 165712931:165712991 | ENSG00000112539.10 | ENST00000543069.1,ENST00000230301.8 |
| exon_skip_463270 | 6 | 165713852:165713975:165715057:165715785:165723050:165723096 | 165715057:165715785 | ENSG00000112539.10 | ENST00000230301.8 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for C6orf118 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_463265 | 6 | 165693521:165693599:165694969:165695025:165695128:165695182 | 165694969:165695025 | ENSG00000112539.10 | ENST00000494696.2,ENST00000491176.1 |
| exon_skip_463269 | 6 | 165711465:165711590:165712931:165712991:165713852:165713975 | 165712931:165712991 | ENSG00000112539.10 | ENST00000230301.8,ENST00000543069.1 |
| exon_skip_463270 | 6 | 165713852:165713975:165715057:165715785:165723050:165723096 | 165715057:165715785 | ENSG00000112539.10 | ENST00000230301.8 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for C6orf118 |
| 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 |
| ENST00000230301 | 165715057 | 165715785 | Frame-shift |
| ENST00000230301 | 165712931 | 165712991 | 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 |
| ENST00000230301 | 165715057 | 165715785 | Frame-shift |
| ENST00000230301 | 165712931 | 165712991 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for C6orf118 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000230301 | 1829 | 469 | 165712931 | 165712991 | 898 | 957 | 292 | 312 |
| 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 |
| ENST00000230301 | 1829 | 469 | 165712931 | 165712991 | 898 | 957 | 292 | 312 |
| 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 |
| Q5T5N4 | 292 | 312 | 1 | 469 | Chain | ID=PRO_0000089523;Note=Uncharacterized protein C6orf118 |
| Q5T5N4 | 292 | 312 | 301 | 301 | Natural variant | ID=VAR_050809;Note=T->M;Dbxref=dbSNP:rs540751 |
| 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 |
| Q5T5N4 | 292 | 312 | 1 | 469 | Chain | ID=PRO_0000089523;Note=Uncharacterized protein C6orf118 |
| Q5T5N4 | 292 | 312 | 301 | 301 | Natural variant | ID=VAR_050809;Note=T->M;Dbxref=dbSNP:rs540751 |
Top |
SNVs in the skipped exons for C6orf118 |
| - 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 |
| LUAD | TCGA-55-A48X-01 | exon_skip_463270 | 165715058 | 165715785 | 165715130 | 165715130 | Frame_Shift_Del | G | - | p.A123fs |
| COAD | TCGA-D5-6930-01 | exon_skip_463270 | 165715058 | 165715785 | 165715613 | 165715613 | Frame_Shift_Del | G | - | p.N67fs |
| UCEC | TCGA-AP-A05N-01 | exon_skip_463270 | 165715058 | 165715785 | 165715450 | 165715451 | Frame_Shift_Ins | - | G | p.P120fs |
| LUAD | TCGA-95-7043-01 | exon_skip_463269 | 165712932 | 165712991 | 165712974 | 165712974 | Nonsense_Mutation | G | T | p.Y194* |
| LUAD | TCGA-95-7043-01 | exon_skip_463269 | 165712932 | 165712991 | 165712974 | 165712974 | Nonsense_Mutation | G | T | p.Y298* |
| SKCM | TCGA-DA-A1HV-06 | exon_skip_463270 | 165715058 | 165715785 | 165715408 | 165715408 | Nonsense_Mutation | G | A | p.Q135X |
| SKCM | TCGA-DA-A1HV-06 | exon_skip_463270 | 165715058 | 165715785 | 165715408 | 165715408 | Nonsense_Mutation | G | A | p.Q31* |
| BRCA | TCGA-AO-A0J3-01 | exon_skip_463270 | 165715058 | 165715785 | 165715773 | 165715773 | Nonsense_Mutation | C | T | p.W13* |
| - 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 |
| HCC2450_LUNG | 165712932 | 165712991 | 165712952 | 165712952 | Missense_Mutation | G | T | p.Q306K |
| HCT116_LARGE_INTESTINE | 165712932 | 165712991 | 165712955 | 165712955 | Missense_Mutation | A | G | p.S305P |
| UMUC5_URINARY_TRACT | 165715058 | 165715785 | 165715084 | 165715084 | Missense_Mutation | C | T | p.A243T |
| LU139_LUNG | 165715058 | 165715785 | 165715084 | 165715084 | Missense_Mutation | C | A | p.A243S |
| PLCPRF5_LIVER | 165715058 | 165715785 | 165715086 | 165715086 | Missense_Mutation | G | C | p.A242G |
| C125PM_LARGE_INTESTINE | 165715058 | 165715785 | 165715152 | 165715152 | Missense_Mutation | C | T | p.R220H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165715058 | 165715785 | 165715152 | 165715152 | Missense_Mutation | C | T | p.R220H |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165715058 | 165715785 | 165715177 | 165715177 | Missense_Mutation | C | T | p.A212T |
| SW756_CERVIX | 165715058 | 165715785 | 165715182 | 165715182 | Missense_Mutation | G | A | p.T210I |
| SCC9_UPPER_AERODIGESTIVE_TRACT | 165715058 | 165715785 | 165715188 | 165715188 | Missense_Mutation | C | A | p.G208V |
| CL14_LARGE_INTESTINE | 165715058 | 165715785 | 165715233 | 165715233 | Missense_Mutation | C | A | p.R193I |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 165715058 | 165715785 | 165715342 | 165715342 | Missense_Mutation | C | T | p.E157K |
| NBSUSSR_AUTONOMIC_GANGLIA | 165715058 | 165715785 | 165715342 | 165715342 | Missense_Mutation | C | T | p.E157K |
| MM370_SKIN | 165715058 | 165715785 | 165715378 | 165715378 | Missense_Mutation | C | T | p.D145N |
| HUH28_BILIARY_TRACT | 165715058 | 165715785 | 165715399 | 165715399 | Missense_Mutation | G | C | p.L138V |
| SW1710_URINARY_TRACT | 165715058 | 165715785 | 165715399 | 165715399 | Missense_Mutation | G | C | p.L138V |
| IGR1_SKIN | 165715058 | 165715785 | 165715453 | 165715453 | Missense_Mutation | G | A | p.P120S |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 165715058 | 165715785 | 165715467 | 165715467 | Missense_Mutation | T | A | p.H115L |
| SW1271_LUNG | 165715058 | 165715785 | 165715512 | 165715512 | Missense_Mutation | C | A | p.G100V |
| SNU1040_LARGE_INTESTINE | 165715058 | 165715785 | 165715516 | 165715516 | Missense_Mutation | C | T | p.A99T |
| MDAMB231_BREAST | 165715058 | 165715785 | 165715521 | 165715521 | Missense_Mutation | G | T | p.P97Q |
| SNGM_ENDOMETRIUM | 165715058 | 165715785 | 165715540 | 165715540 | Missense_Mutation | C | T | p.A91T |
| CP67MEL_SKIN | 165715058 | 165715785 | 165715581 | 165715581 | Missense_Mutation | A | G | p.L77S |
| SJSA1_BONE | 165715058 | 165715785 | 165715597 | 165715597 | Missense_Mutation | G | T | p.P72T |
| SW480_LARGE_INTESTINE | 165715058 | 165715785 | 165715624 | 165715624 | Missense_Mutation | G | A | p.H63Y |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 165715058 | 165715785 | 165715644 | 165715644 | Missense_Mutation | A | T | p.V56D |
| MKN1_STOMACH | 165715058 | 165715785 | 165715672 | 165715672 | Missense_Mutation | G | A | p.R47W |
| NCIH2342_LUNG | 165715058 | 165715785 | 165715740 | 165715740 | Missense_Mutation | A | C | p.L24R |
| NCIH716_LARGE_INTESTINE | 165715058 | 165715785 | 165715750 | 165715750 | Missense_Mutation | C | T | p.V21M |
| NCIH1339_LUNG | 165715058 | 165715785 | 165715546 | 165715546 | Nonsense_Mutation | C | A | p.E89* |
| SNU81_LARGE_INTESTINE | 165715058 | 165715785 | 165715711 | 165715711 | Nonsense_Mutation | C | A | p.G34* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C6orf118 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C6orf118 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C6orf118 |
Top |
RelatedDrugs for C6orf118 |
| 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 |
Top |
RelatedDiseases for C6orf118 |
| 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)
|