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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 CHD6 |
 Gene summary |
| Gene information | Gene symbol | CHD6 | Gene ID | 84181 |
| Gene name | chromodomain helicase DNA binding protein 6 | |
| Synonyms | CHD-6|CHD5|RIGB | |
| Cytomap | 20q12 | |
| Type of gene | protein-coding | |
| Description | chromodomain-helicase-DNA-binding protein 6ATP-dependent helicase CHD6helicase C-terminal domain- and SNF2 N-terminal domain-containing proteinradiation-induced gene B protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q8TD26 | |
| Context | PubMed: CHD6 [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 CHD6 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 CHD6 |
| 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 CHD6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_357114 | 20 | 40049147:40050719:40052131:40052340:40053817:40054029 | 40052131:40052340 | ENSG00000124177.10 | ENST00000373233.3 |
| exon_skip_357119 | 20 | 40085903:40086068:40101961:40102157:40111948:40112153 | 40101961:40102157 | ENSG00000124177.10 | ENST00000373233.3 |
| exon_skip_357125 | 20 | 40112991:40113247:40116304:40116448:40117067:40117244 | 40116304:40116448 | ENSG00000124177.10 | ENST00000373233.3 |
| exon_skip_357127 | 20 | 40126807:40126866:40127934:40127997:40141484:40141634 | 40127934:40127997 | ENSG00000124177.10 | ENST00000470470.1,ENST00000373233.3,ENST00000309279.7,ENST00000373222.3 |
| exon_skip_357128 | 20 | 40127934:40127997:40141484:40141634:40143443:40143591 | 40141484:40141634 | ENSG00000124177.10 | ENST00000470470.1,ENST00000373233.3,ENST00000309279.7,ENST00000373222.3 |
| exon_skip_357132 | 20 | 40141484:40141634:40143443:40143591:40161688:40161924 | 40143443:40143591 | ENSG00000124177.10 | ENST00000470470.1,ENST00000373233.3,ENST00000309279.7,ENST00000373222.3 |
| exon_skip_357135 | 20 | 40143558:40143591:40161688:40162209:40179943:40179999 | 40161688:40162209 | ENSG00000124177.10 | ENST00000373233.3,ENST00000309279.7 |
| exon_skip_357136 | 20 | 40143558:40143591:40161688:40162209:40246978:40247014 | 40161688:40162209 | ENSG00000124177.10 | ENST00000482596.1 |
| exon_skip_357142 | 20 | 40161794:40162209:40179943:40179999:40246978:40247014 | 40179943:40179999 | ENSG00000124177.10 | ENST00000309279.7 |
| exon_skip_357143 | 20 | 40161794:40162209:40192649:40192790:40246978:40247014 | 40192649:40192790 | ENSG00000124177.10 | ENST00000373222.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHD6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_357114 | 20 | 40049147:40050719:40052131:40052340:40053817:40054029 | 40052131:40052340 | ENSG00000124177.10 | ENST00000373233.3 |
| exon_skip_357119 | 20 | 40085903:40086068:40101961:40102157:40111948:40112153 | 40101961:40102157 | ENSG00000124177.10 | ENST00000373233.3 |
| exon_skip_357125 | 20 | 40112991:40113247:40116304:40116448:40117067:40117244 | 40116304:40116448 | ENSG00000124177.10 | ENST00000373233.3 |
| exon_skip_357127 | 20 | 40126807:40126866:40127934:40127997:40141484:40141634 | 40127934:40127997 | ENSG00000124177.10 | ENST00000373233.3,ENST00000309279.7,ENST00000470470.1,ENST00000373222.3 |
| exon_skip_357128 | 20 | 40127934:40127997:40141484:40141634:40143443:40143591 | 40141484:40141634 | ENSG00000124177.10 | ENST00000373233.3,ENST00000309279.7,ENST00000470470.1,ENST00000373222.3 |
| exon_skip_357132 | 20 | 40141484:40141634:40143443:40143591:40161688:40161924 | 40143443:40143591 | ENSG00000124177.10 | ENST00000373233.3,ENST00000309279.7,ENST00000470470.1,ENST00000373222.3 |
| exon_skip_357135 | 20 | 40143558:40143591:40161688:40162209:40179943:40179999 | 40161688:40162209 | ENSG00000124177.10 | ENST00000373233.3,ENST00000309279.7 |
| exon_skip_357136 | 20 | 40143558:40143591:40161688:40162209:40246978:40247014 | 40161688:40162209 | ENSG00000124177.10 | ENST00000482596.1 |
| exon_skip_357142 | 20 | 40161794:40162209:40179943:40179999:40246978:40247014 | 40179943:40179999 | ENSG00000124177.10 | ENST00000309279.7 |
| exon_skip_357143 | 20 | 40161794:40162209:40192649:40192790:40246978:40247014 | 40192649:40192790 | ENSG00000124177.10 | ENST00000373222.3 |
| 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 CHD6 |
| 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 |
| ENST00000373233 | 40052131 | 40052340 | Frame-shift |
| ENST00000373233 | 40101961 | 40102157 | Frame-shift |
| ENST00000373233 | 40143443 | 40143591 | Frame-shift |
| ENST00000373233 | 40161688 | 40162209 | Frame-shift |
| ENST00000373233 | 40116304 | 40116448 | In-frame |
| ENST00000373233 | 40127934 | 40127997 | In-frame |
| ENST00000373233 | 40141484 | 40141634 | 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 |
| ENST00000373233 | 40052131 | 40052340 | Frame-shift |
| ENST00000373233 | 40101961 | 40102157 | Frame-shift |
| ENST00000373233 | 40143443 | 40143591 | Frame-shift |
| ENST00000373233 | 40161688 | 40162209 | Frame-shift |
| ENST00000373233 | 40116304 | 40116448 | In-frame |
| ENST00000373233 | 40127934 | 40127997 | In-frame |
| ENST00000373233 | 40141484 | 40141634 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHD6 |
| 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 |
| ENST00000373233 | 10835 | 2715 | 40141484 | 40141634 | 881 | 1030 | 234 | 284 |
| ENST00000373233 | 10835 | 2715 | 40127934 | 40127997 | 1031 | 1093 | 284 | 305 |
| ENST00000373233 | 10835 | 2715 | 40116304 | 40116448 | 2036 | 2179 | 619 | 667 |
| 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 |
| ENST00000373233 | 10835 | 2715 | 40141484 | 40141634 | 881 | 1030 | 234 | 284 |
| ENST00000373233 | 10835 | 2715 | 40127934 | 40127997 | 1031 | 1093 | 284 | 305 |
| ENST00000373233 | 10835 | 2715 | 40116304 | 40116448 | 2036 | 2179 | 619 | 667 |
| 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 CHD6 |
| - 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-A1EG-01 | exon_skip_357114 | 40052132 | 40052340 | 40052189 | 40052189 | Frame_Shift_Del | A | - | p.Y1500fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_357114 | 40052132 | 40052340 | 40052264 | 40052264 | Frame_Shift_Del | T | - | p.T1475fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_357114 | 40052132 | 40052340 | 40052269 | 40052269 | Frame_Shift_Del | T | - | p.K1474fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_357125 | 40116305 | 40116448 | 40116316 | 40116316 | Frame_Shift_Del | T | - | p.T664fs |
| BRCA | TCGA-E2-A109-01 | exon_skip_357127 | 40127935 | 40127997 | 40127957 | 40127957 | Frame_Shift_Del | A | - | p.L298fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_357132 | 40143444 | 40143591 | 40143533 | 40143533 | Frame_Shift_Del | T | - | p.T206fs |
| UCEC | TCGA-D1-A0ZZ-01 | exon_skip_357136 exon_skip_357135 | 40161689 | 40162209 | 40161945 | 40161945 | Frame_Shift_Del | C | - | p.E100fs |
| UCEC | TCGA-D1-A0ZZ-01 | exon_skip_357136 exon_skip_357135 | 40161689 | 40162209 | 40161954 | 40161955 | Frame_Shift_Del | TC | - | p.R96fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_357143 | 40192650 | 40192790 | 40192676 | 40192676 | Frame_Shift_Del | G | - | p.Q38fs |
| BLCA | TCGA-2F-A9KT-01 | exon_skip_357114 | 40052132 | 40052340 | 40052253 | 40052253 | Nonsense_Mutation | C | T | p.W1478* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_357119 | 40101962 | 40102157 | 40102132 | 40102132 | Nonsense_Mutation | G | A | p.R832* |
| LUAD | TCGA-73-4670-01 | exon_skip_357125 | 40116305 | 40116448 | 40116400 | 40116400 | Nonsense_Mutation | C | A | p.E636* |
| LUAD | TCGA-95-7043-01 | exon_skip_357125 | 40116305 | 40116448 | 40116427 | 40116427 | Nonsense_Mutation | C | A | p.G627* |
| ESCA | TCGA-ZR-A9CJ-01 | exon_skip_357128 | 40141485 | 40141634 | 40141513 | 40141513 | Nonsense_Mutation | G | T | p.S275X |
| LUAD | TCGA-49-6761-01 | exon_skip_357136 exon_skip_357135 | 40161689 | 40162209 | 40161984 | 40161984 | Nonsense_Mutation | C | A | p.G87* |
| - 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 | 40101962 | 40102157 | 40102126 | 40102126 | Frame_Shift_Del | G | - | p.R834fs |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40052132 | 40052340 | 40052200 | 40052200 | Missense_Mutation | T | A | p.E1496V |
| SNU520_STOMACH | 40052132 | 40052340 | 40052316 | 40052316 | Missense_Mutation | G | T | p.D1457E |
| SNU61_LARGE_INTESTINE | 40101962 | 40102157 | 40102006 | 40102006 | Missense_Mutation | A | T | p.C874S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40101962 | 40102157 | 40102032 | 40102032 | Missense_Mutation | C | A | p.G865V |
| HEC1A_ENDOMETRIUM | 40101962 | 40102157 | 40102096 | 40102096 | Missense_Mutation | G | A | p.R844W |
| OE33_OESOPHAGUS | 40101962 | 40102157 | 40102122 | 40102122 | Missense_Mutation | C | T | p.G835E |
| NBSUSSR_AUTONOMIC_GANGLIA | 40116305 | 40116448 | 40116346 | 40116346 | Missense_Mutation | C | T | p.A654T |
| SW684_SOFT_TISSUE | 40116305 | 40116448 | 40116358 | 40116358 | Missense_Mutation | G | A | p.P650S |
| CP67MEL_SKIN | 40116305 | 40116448 | 40116438 | 40116438 | Missense_Mutation | A | G | p.V623A |
| CASKI_CERVIX | 40127935 | 40127997 | 40127943 | 40127943 | Missense_Mutation | C | G | p.V303L |
| PECAPJ49_UPPER_AERODIGESTIVE_TRACT | 40127935 | 40127997 | 40127982 | 40127982 | Missense_Mutation | C | T | p.D290N |
| SNU1040_LARGE_INTESTINE | 40141485 | 40141634 | 40141528 | 40141528 | Missense_Mutation | C | T | p.R270Q |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40141485 | 40141634 | 40141606 | 40141606 | Missense_Mutation | C | T | p.R244H |
| SKMEL31_SKIN | 40143444 | 40143591 | 40143475 | 40143475 | Missense_Mutation | G | A | p.P224L |
| HEC108_ENDOMETRIUM | 40143444 | 40143591 | 40143482 | 40143482 | Missense_Mutation | G | A | p.R222W |
| HSC39_STOMACH | 40143444 | 40143591 | 40143496 | 40143496 | Missense_Mutation | G | A | p.T217M |
| KYSE270_OESOPHAGUS | 40143444 | 40143591 | 40143496 | 40143496 | Missense_Mutation | G | A | p.T217M |
| CAMA1_BREAST | 40143444 | 40143591 | 40143566 | 40143566 | Missense_Mutation | C | G | p.E194Q |
| SNU1040_LARGE_INTESTINE | 40161689 | 40162209 | 40161707 | 40161707 | Missense_Mutation | G | A | p.T179M |
| SNUC2A_LARGE_INTESTINE | 40161689 | 40162209 | 40161713 | 40161713 | Missense_Mutation | G | A | p.A177V |
| SNU1040_LARGE_INTESTINE | 40161689 | 40162209 | 40161723 | 40161723 | Missense_Mutation | C | T | p.D174N |
| NCIH630_LARGE_INTESTINE | 40161689 | 40162209 | 40161751 | 40161751 | Missense_Mutation | C | A | p.K164N |
| LN319_CENTRAL_NERVOUS_SYSTEM | 40161689 | 40162209 | 40161953 | 40161953 | Missense_Mutation | T | C | p.K97R |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40161689 | 40162209 | 40161975 | 40161975 | Missense_Mutation | T | C | p.T90A |
| RD_SOFT_TISSUE | 40161689 | 40162209 | 40161975 | 40161975 | Missense_Mutation | T | C | p.T90A |
| BEN_LUNG | 40161689 | 40162209 | 40162031 | 40162031 | Missense_Mutation | A | T | p.L71H |
| NUGC3_STOMACH | 40161689 | 40162209 | 40162037 | 40162037 | Missense_Mutation | G | A | p.A69V |
| SNU1040_LARGE_INTESTINE | 40161689 | 40162209 | 40162122 | 40162122 | Missense_Mutation | T | C | p.S41G |
| SNU1040_LARGE_INTESTINE | 40161689 | 40162209 | 40162140 | 40162140 | Missense_Mutation | G | A | p.P35S |
| LIM1215_LARGE_INTESTINE | 40161689 | 40162209 | 40162178 | 40162178 | Missense_Mutation | G | A | p.P22L |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40143444 | 40143591 | 40143524 | 40143524 | Nonsense_Mutation | C | A | p.E208* |
| TT_OESOPHAGUS | 40161689 | 40162209 | 40162113 | 40162113 | Nonsense_Mutation | G | A | p.Q44* |
| SW403_LARGE_INTESTINE | 40127935 | 40127997 | 40127935 | 40127935 | Splice_Site | C | A | p.E305D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHD6 |
| 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 CHD6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHD6 |
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RelatedDrugs for CHD6 |
| 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 CHD6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CHD6 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| CHD6 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| CHD6 | C0027819 | Neuroblastoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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