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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 C6orf132 |
 Gene summary |
| Gene information | Gene symbol | C6orf132 | Gene ID | 647024 |
| Gene name | chromosome 6 open reading frame 132 | |
| Synonyms | bA7K24.2 | |
| Cytomap | 6p21.1 | |
| Type of gene | protein-coding | |
| Description | uncharacterized protein C6orf132 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5T0Z8 | |
| Context | PubMed: C6orf132 [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 C6orf132 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 C6orf132 |
| 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 C6orf132 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459562 | 6 | 42068855:42071616:42072200:42075321:42077953:42078029 | 42072200:42075321 | ENSG00000188112.4 | ENST00000341865.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C6orf132 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459562 | 6 | 42068855:42071616:42072200:42075321:42077953:42078029 | 42072200:42075321 | ENSG00000188112.4 | ENST00000341865.4 |
| 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 C6orf132 |
| 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 |
| ENST00000341865 | 42072200 | 42075321 | 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 |
| ENST00000341865 | 42072200 | 42075321 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for C6orf132 |
| 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 C6orf132 |
| - 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 |
| ESCA | TCGA-L5-A8NR-01 | exon_skip_459562 | 42072201 | 42075321 | 42072477 | 42072477 | Frame_Shift_Del | C | - | p.G1058fs |
| ESCA | TCGA-L5-A4OE-01 | exon_skip_459562 | 42072201 | 42075321 | 42074752 | 42074752 | Frame_Shift_Del | G | - | p.R300fs |
| CHOL | TCGA-W5-AA38-01 | exon_skip_459562 | 42072201 | 42075321 | 42074970 | 42074970 | Frame_Shift_Del | G | - | p.P230fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_459562 | 42072201 | 42075321 | 42075170 | 42075170 | Frame_Shift_Del | C | - | p.G160fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_459562 | 42072201 | 42075321 | 42075198 | 42075198 | Frame_Shift_Del | G | - | p.P151fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_459562 | 42072201 | 42075321 | 42075219 | 42075219 | Frame_Shift_Del | G | - | p.P144fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_459562 | 42072201 | 42075321 | 42074305 | 42074306 | Frame_Shift_Ins | - | G | p.S448fs |
| THYM | TCGA-XU-AAY0-01 | exon_skip_459562 | 42072201 | 42075321 | 42074969 | 42074970 | Frame_Shift_Ins | - | G | p.P227fs |
| THYM | TCGA-XU-AAY0-01 | exon_skip_459562 | 42072201 | 42075321 | 42074969 | 42074970 | Frame_Shift_Ins | - | G | p.P228fs |
| COAD | TCGA-CM-6674-01 | exon_skip_459562 | 42072201 | 42075321 | 42075292 | 42075292 | Nonsense_Mutation | G | A | p.R120X |
| - 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 |
| DANG_PANCREAS | 42072201 | 42075321 | 42073591 | 42073592 | Frame_Shift_Del | AT | - | p.S687fs |
| D341MED_CENTRAL_NERVOUS_SYSTEM | 42072201 | 42075321 | 42074306 | 42074306 | Frame_Shift_Del | G | - | p.P448fs |
| JHUEM1_ENDOMETRIUM | 42072201 | 42075321 | 42074306 | 42074306 | Frame_Shift_Del | G | - | p.P448fs |
| CL34_LARGE_INTESTINE | 42072201 | 42075321 | 42074306 | 42074306 | Frame_Shift_Del | G | - | p.P448fs |
| C33A_CERVIX | 42072201 | 42075321 | 42074970 | 42074970 | Frame_Shift_Del | G | - | p.P230fs |
| MM426_SKIN | 42072201 | 42075321 | 42074970 | 42074970 | Frame_Shift_Del | G | - | p.P230fs |
| HS706T_BONE | 42072201 | 42075321 | 42074024 | 42074038 | In_Frame_Del | AGCCTCTGTCTCTGT | - | p.TETEA538del |
| KM12_LARGE_INTESTINE | 42072201 | 42075321 | 42072420 | 42072420 | Missense_Mutation | A | G | p.L1077P |
| NCIH2106_LUNG | 42072201 | 42075321 | 42072450 | 42072450 | Missense_Mutation | T | C | p.Y1067C |
| GB1_CENTRAL_NERVOUS_SYSTEM | 42072201 | 42075321 | 42072520 | 42072520 | Missense_Mutation | G | A | p.R1044C |
| DU145_PROSTATE | 42072201 | 42075321 | 42072631 | 42072631 | Missense_Mutation | C | T | p.G1007S |
| PC9_LUNG | 42072201 | 42075321 | 42072684 | 42072684 | Missense_Mutation | G | A | p.P989L |
| PC14_LUNG | 42072201 | 42075321 | 42072684 | 42072684 | Missense_Mutation | G | A | p.P989L |
| NCIH2405_LUNG | 42072201 | 42075321 | 42072724 | 42072724 | Missense_Mutation | C | T | p.E976K |
| SNU349_KIDNEY | 42072201 | 42075321 | 42072992 | 42072992 | Missense_Mutation | C | A | p.Q886H |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 42072201 | 42075321 | 42073035 | 42073035 | Missense_Mutation | C | T | p.S872N |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 42072201 | 42075321 | 42073100 | 42073100 | Missense_Mutation | C | G | p.Q850H |
| SNU175_LARGE_INTESTINE | 42072201 | 42075321 | 42073147 | 42073147 | Missense_Mutation | G | A | p.R835W |
| LS411N_LARGE_INTESTINE | 42072201 | 42075321 | 42073332 | 42073332 | Missense_Mutation | C | T | p.C773Y |
| MM426_SKIN | 42072201 | 42075321 | 42073476 | 42073476 | Missense_Mutation | A | G | p.V725A |
| NCIH1836_LUNG | 42072201 | 42075321 | 42073861 | 42073861 | Missense_Mutation | C | G | p.G597R |
| HEC151_ENDOMETRIUM | 42072201 | 42075321 | 42073915 | 42073915 | Missense_Mutation | C | T | p.E579K |
| SNU324_PANCREAS | 42072201 | 42075321 | 42073960 | 42073960 | Missense_Mutation | G | A | p.R564W |
| GP2D_LARGE_INTESTINE | 42072201 | 42075321 | 42073993 | 42073993 | Missense_Mutation | A | G | p.Y553H |
| RKO_LARGE_INTESTINE | 42072201 | 42075321 | 42074047 | 42074047 | Missense_Mutation | T | C | p.S535G |
| TE6_OESOPHAGUS | 42072201 | 42075321 | 42074047 | 42074047 | Missense_Mutation | T | C | p.S535G |
| TTC442_SOFT_TISSUE | 42072201 | 42075321 | 42074358 | 42074358 | Missense_Mutation | G | A | p.T431I |
| HEC151_ENDOMETRIUM | 42072201 | 42075321 | 42074394 | 42074394 | Missense_Mutation | C | T | p.C419Y |
| SNU1040_LARGE_INTESTINE | 42072201 | 42075321 | 42074410 | 42074410 | Missense_Mutation | C | T | p.A414T |
| C33A_CERVIX | 42072201 | 42075321 | 42074443 | 42074443 | Missense_Mutation | G | T | p.L403I |
| HUCCT1_BILIARY_TRACT | 42072201 | 42075321 | 42074554 | 42074554 | Missense_Mutation | G | A | p.L366F |
| KYSE270_OESOPHAGUS | 42072201 | 42075321 | 42074590 | 42074590 | Missense_Mutation | G | A | p.P354S |
| RL952_ENDOMETRIUM | 42072201 | 42075321 | 42074605 | 42074605 | Missense_Mutation | C | T | p.A349T |
| SNU1040_LARGE_INTESTINE | 42072201 | 42075321 | 42074617 | 42074617 | Missense_Mutation | G | A | p.H345Y |
| HEC6_ENDOMETRIUM | 42072201 | 42075321 | 42074662 | 42074662 | Missense_Mutation | C | T | p.A330T |
| JHUEM7_ENDOMETRIUM | 42072201 | 42075321 | 42074712 | 42074712 | Missense_Mutation | G | A | p.S313L |
| 8305C_THYROID | 42072201 | 42075321 | 42074836 | 42074836 | Missense_Mutation | T | C | p.T272A |
| MM370_SKIN | 42072201 | 42075321 | 42074898 | 42074898 | Missense_Mutation | G | A | p.P251L |
| IGROV1_OVARY | 42072201 | 42075321 | 42074944 | 42074944 | Missense_Mutation | G | A | p.P236S |
| CORL23_LUNG | 42072201 | 42075321 | 42074950 | 42074950 | Missense_Mutation | G | A | p.P234S |
| MM370_SKIN | 42072201 | 42075321 | 42075132 | 42075132 | Missense_Mutation | G | A | p.P173L |
| HDQP1_BREAST | 42072201 | 42075321 | 42075175 | 42075175 | Missense_Mutation | C | G | p.G159R |
| NCIH146_LUNG | 42072201 | 42075321 | 42075190 | 42075190 | Missense_Mutation | T | C | p.I154V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C6orf132 |
| 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 C6orf132 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C6orf132 |
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RelatedDrugs for C6orf132 |
| 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 C6orf132 |
| 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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