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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 SUPT6H |
Gene summary |
Gene information | Gene symbol | SUPT6H | Gene ID | 6830 |
Gene name | SPT6 homolog, histone chaperone | |
Synonyms | SPT6|SPT6H|emb-5 | |
Cytomap | 17q11.2 | |
Type of gene | protein-coding | |
Description | transcription elongation factor SPT6histone chaperone suppressor of Ty6suppressor of Ty 6 homologtat-CT2 proteintat-cotransactivator 2 protein | |
Modification date | 20180523 | |
UniProtAcc | Q7KZ85 | |
Context | PubMed: SUPT6H [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 SUPT6H 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 SUPT6H |
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 SUPT6H |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_150334 | 17 | 26989215:26989360:26999774:26999876:27000388:27000528 | 26999774:26999876 | ENSG00000109111.10 | ENST00000347486.4 |
exon_skip_150338 | 17 | 27004732:27004834:27005093:27005210:27005562:27005652 | 27005093:27005210 | ENSG00000109111.10 | ENST00000347486.4,ENST00000314616.6 |
exon_skip_150339 | 17 | 27005562:27005652:27005838:27005981:27008273:27008422 | 27005838:27005981 | ENSG00000109111.10 | ENST00000347486.4,ENST00000314616.6 |
exon_skip_150341 | 17 | 27009744:27009874:27009959:27010110:27010285:27010440 | 27009959:27010110 | ENSG00000109111.10 | ENST00000347486.4,ENST00000314616.6 |
exon_skip_150343 | 17 | 27011861:27011979:27013356:27013433:27013671:27013807 | 27013356:27013433 | ENSG00000109111.10 | ENST00000347486.4,ENST00000314616.6 |
exon_skip_150344 | 17 | 27014367:27014489:27015108:27015236:27016371:27016445 | 27015108:27015236 | ENSG00000109111.10 | ENST00000347486.4,ENST00000314616.6,ENST00000581908.1 |
exon_skip_150349 | 17 | 27017099:27017247:27017938:27018081:27020713:27020854 | 27017938:27018081 | ENSG00000109111.10 | ENST00000347486.4,ENST00000314616.6 |
exon_skip_150351 | 17 | 27017938:27018081:27020713:27020854:27022369:27022565 | 27020713:27020854 | ENSG00000109111.10 | ENST00000347486.4,ENST00000314616.6 |
exon_skip_150353 | 17 | 27024637:27024751:27024923:27025048:27026798:27026911 | 27024923:27025048 | ENSG00000109111.10 | ENST00000347486.4,ENST00000314616.6 |
exon_skip_150359 | 17 | 27027363:27027530:27027958:27028146:27028456:27028557 | 27027958:27028146 | ENSG00000109111.10 | ENST00000347486.4,ENST00000314616.6 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SUPT6H |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_150334 | 17 | 26989215:26989360:26999774:26999876:27000388:27000528 | 26999774:26999876 | ENSG00000109111.10 | ENST00000347486.4 |
exon_skip_150338 | 17 | 27004732:27004834:27005093:27005210:27005562:27005652 | 27005093:27005210 | ENSG00000109111.10 | ENST00000314616.6,ENST00000347486.4 |
exon_skip_150339 | 17 | 27005562:27005652:27005838:27005981:27008273:27008422 | 27005838:27005981 | ENSG00000109111.10 | ENST00000314616.6,ENST00000347486.4 |
exon_skip_150341 | 17 | 27009744:27009874:27009959:27010110:27010285:27010440 | 27009959:27010110 | ENSG00000109111.10 | ENST00000314616.6,ENST00000347486.4 |
exon_skip_150343 | 17 | 27011861:27011979:27013356:27013433:27013671:27013807 | 27013356:27013433 | ENSG00000109111.10 | ENST00000314616.6,ENST00000347486.4 |
exon_skip_150344 | 17 | 27014367:27014489:27015108:27015236:27016371:27016445 | 27015108:27015236 | ENSG00000109111.10 | ENST00000314616.6,ENST00000347486.4,ENST00000581908.1 |
exon_skip_150349 | 17 | 27017099:27017247:27017938:27018081:27020713:27020854 | 27017938:27018081 | ENSG00000109111.10 | ENST00000314616.6,ENST00000347486.4 |
exon_skip_150351 | 17 | 27017938:27018081:27020713:27020854:27022369:27022565 | 27020713:27020854 | ENSG00000109111.10 | ENST00000314616.6,ENST00000347486.4 |
exon_skip_150353 | 17 | 27024637:27024751:27024923:27025048:27026798:27026911 | 27024923:27025048 | ENSG00000109111.10 | ENST00000314616.6,ENST00000347486.4 |
exon_skip_150359 | 17 | 27027363:27027530:27027958:27028146:27028456:27028557 | 27027958:27028146 | ENSG00000109111.10 | ENST00000314616.6,ENST00000347486.4 |
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 SUPT6H |
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 |
ENST00000347486 | 26999774 | 26999876 | 5UTR-5UTR |
ENST00000314616 | 27005838 | 27005981 | Frame-shift |
ENST00000347486 | 27005838 | 27005981 | Frame-shift |
ENST00000314616 | 27009959 | 27010110 | Frame-shift |
ENST00000347486 | 27009959 | 27010110 | Frame-shift |
ENST00000314616 | 27013356 | 27013433 | Frame-shift |
ENST00000347486 | 27013356 | 27013433 | Frame-shift |
ENST00000314616 | 27015108 | 27015236 | Frame-shift |
ENST00000347486 | 27015108 | 27015236 | Frame-shift |
ENST00000314616 | 27017938 | 27018081 | Frame-shift |
ENST00000347486 | 27017938 | 27018081 | Frame-shift |
ENST00000314616 | 27024923 | 27025048 | Frame-shift |
ENST00000347486 | 27024923 | 27025048 | Frame-shift |
ENST00000314616 | 27027958 | 27028146 | Frame-shift |
ENST00000347486 | 27027958 | 27028146 | Frame-shift |
ENST00000314616 | 27005093 | 27005210 | In-frame |
ENST00000347486 | 27005093 | 27005210 | In-frame |
ENST00000314616 | 27020713 | 27020854 | In-frame |
ENST00000347486 | 27020713 | 27020854 | 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 |
ENST00000347486 | 26999774 | 26999876 | 5UTR-5UTR |
ENST00000314616 | 27005838 | 27005981 | Frame-shift |
ENST00000347486 | 27005838 | 27005981 | Frame-shift |
ENST00000314616 | 27009959 | 27010110 | Frame-shift |
ENST00000347486 | 27009959 | 27010110 | Frame-shift |
ENST00000314616 | 27013356 | 27013433 | Frame-shift |
ENST00000347486 | 27013356 | 27013433 | Frame-shift |
ENST00000314616 | 27015108 | 27015236 | Frame-shift |
ENST00000347486 | 27015108 | 27015236 | Frame-shift |
ENST00000314616 | 27017938 | 27018081 | Frame-shift |
ENST00000347486 | 27017938 | 27018081 | Frame-shift |
ENST00000314616 | 27024923 | 27025048 | Frame-shift |
ENST00000347486 | 27024923 | 27025048 | Frame-shift |
ENST00000314616 | 27027958 | 27028146 | Frame-shift |
ENST00000347486 | 27027958 | 27028146 | Frame-shift |
ENST00000314616 | 27005093 | 27005210 | In-frame |
ENST00000347486 | 27005093 | 27005210 | In-frame |
ENST00000314616 | 27020713 | 27020854 | In-frame |
ENST00000347486 | 27020713 | 27020854 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SUPT6H |
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 |
ENST00000314616 | 6535 | 1726 | 27005093 | 27005210 | 1283 | 1399 | 333 | 372 |
ENST00000347486 | 5586 | 1726 | 27005093 | 27005210 | 1278 | 1394 | 333 | 372 |
ENST00000314616 | 6535 | 1726 | 27020713 | 27020854 | 3917 | 4057 | 1211 | 1258 |
ENST00000347486 | 5586 | 1726 | 27020713 | 27020854 | 3912 | 4052 | 1211 | 1258 |
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 |
ENST00000314616 | 6535 | 1726 | 27005093 | 27005210 | 1283 | 1399 | 333 | 372 |
ENST00000347486 | 5586 | 1726 | 27005093 | 27005210 | 1278 | 1394 | 333 | 372 |
ENST00000314616 | 6535 | 1726 | 27020713 | 27020854 | 3917 | 4057 | 1211 | 1258 |
ENST00000347486 | 5586 | 1726 | 27020713 | 27020854 | 3912 | 4052 | 1211 | 1258 |
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 SUPT6H |
- 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 |
LIHC | TCGA-DD-A3A0-01 | exon_skip_150341 | 27009960 | 27010110 | 27010088 | 27010088 | Frame_Shift_Del | C | - | p.T619fs |
LUAD | TCGA-50-5931-01 | exon_skip_150344 | 27015109 | 27015236 | 27015143 | 27015143 | Frame_Shift_Del | G | - | p.R1014fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_150359 | 27027959 | 27028146 | 27027964 | 27027964 | Frame_Shift_Del | C | - | p.F1604fs |
PAAD | TCGA-HV-AA8X-01 | exon_skip_150359 | 27027959 | 27028146 | 27028143 | 27028144 | Frame_Shift_Ins | - | AA | p.P1664fs |
LGG | TCGA-DU-6392-01 | exon_skip_150351 | 27020714 | 27020854 | 27020846 | 27020846 | Nonsense_Mutation | C | T | p.R1256* |
UCEC | TCGA-DI-A0WH-01 | exon_skip_150359 | 27027959 | 27028146 | 27027980 | 27027980 | Nonsense_Mutation | C | T | p.Q1610* |
KICH | TCGA-KN-8432-01 | exon_skip_150359 | 27027959 | 27028146 | 27028052 | 27028052 | Nonsense_Mutation | C | T | p.Q1634X |
BLCA | TCGA-FD-A3B6-01 | exon_skip_150359 | 27027959 | 27028146 | 27028139 | 27028139 | Nonsense_Mutation | C | T | p.Q1663* |
- 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 |
OC316_OVARY | 27005094 | 27005210 | 27005133 | 27005133 | Missense_Mutation | A | G | p.S347G |
OC314_OVARY | 27005094 | 27005210 | 27005133 | 27005133 | Missense_Mutation | A | G | p.S347G |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27005094 | 27005210 | 27005179 | 27005179 | Missense_Mutation | C | T | p.A362V |
UACC812_BREAST | 27005094 | 27005210 | 27005182 | 27005182 | Missense_Mutation | T | A | p.L363Q |
C4I_CERVIX | 27005094 | 27005210 | 27005208 | 27005208 | Missense_Mutation | G | C | p.E372Q |
NCIH596_LUNG | 27005839 | 27005981 | 27005884 | 27005884 | Missense_Mutation | G | C | p.E418Q |
NCIH378_LUNG | 27005839 | 27005981 | 27005918 | 27005918 | Missense_Mutation | C | T | p.S429F |
NCIH596_LUNG | 27005839 | 27005981 | 27005971 | 27005971 | Missense_Mutation | G | A | p.D447N |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27009960 | 27010110 | 27009985 | 27009985 | Missense_Mutation | C | A | p.L585I |
NCIH522_LUNG | 27009960 | 27010110 | 27010033 | 27010033 | Missense_Mutation | C | T | p.L601F |
MERO84_LUNG | 27009960 | 27010110 | 27010091 | 27010091 | Missense_Mutation | C | T | p.P620L |
TE9_OESOPHAGUS | 27013357 | 27013433 | 27013426 | 27013426 | Missense_Mutation | G | A | p.E853K |
LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27015109 | 27015236 | 27015154 | 27015154 | Missense_Mutation | G | C | p.V1018L |
SNU175_LARGE_INTESTINE | 27017939 | 27018081 | 27017981 | 27017981 | Missense_Mutation | G | A | p.R1178H |
2313287_STOMACH | 27017939 | 27018081 | 27018014 | 27018014 | Missense_Mutation | G | A | p.R1189H |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27020714 | 27020854 | 27020739 | 27020739 | Missense_Mutation | C | T | p.S1220L |
TGBC11TKB_STOMACH | 27020714 | 27020854 | 27020747 | 27020747 | Missense_Mutation | G | T | p.G1223C |
647V_URINARY_TRACT | 27024924 | 27025048 | 27025009 | 27025009 | Missense_Mutation | G | A | p.G1470D |
HCC1833_LUNG | 27027959 | 27028146 | 27028060 | 27028060 | Missense_Mutation | C | A | p.H1636Q |
SNU1040_LARGE_INTESTINE | 27027959 | 27028146 | 27028125 | 27028125 | Missense_Mutation | G | A | p.R1658Q |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27020714 | 27020854 | 27020853 | 27020853 | Splice_Site | A | G | p.K1258R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SUPT6H |
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 SUPT6H |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SUPT6H |
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RelatedDrugs for SUPT6H |
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 SUPT6H |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |