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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 SUPT3H |
 Gene summary |
| Gene information | Gene symbol | SUPT3H | Gene ID | 8464 |
| Gene name | SPT3 homolog, SAGA and STAGA complex component | |
| Synonyms | SPT3|SPT3L | |
| Cytomap | 6p21.1 | |
| Type of gene | protein-coding | |
| Description | transcription initiation protein SPT3 homologSPT3-like proteinsuppressor of Ty 3 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | O75486 | |
| Context | PubMed: SUPT3H [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 |
| SUPT3H | GO:0016578 | histone deubiquitination | 18206972 |
| SUPT3H | GO:0043966 | histone H3 acetylation | 11564863 |
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Exon skipping events across known transcript of Ensembl for SUPT3H 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 SUPT3H |
| 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 SUPT3H |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459890 | 6 | 44777053:44777238:44797500:44797594:44900389:44900500 | 44797500:44797594 | ENSG00000196284.9 | ENST00000475057.1 |
| exon_skip_459893 | 6 | 44797552:44797594:44900389:44900500:44921046:44921154 | 44900389:44900500 | ENSG00000196284.9 | ENST00000475057.1,ENST00000306867.5,ENST00000371459.1,ENST00000371460.1,ENST00000371461.2 |
| exon_skip_459898 | 6 | 44921046:44921154:44922231:44922344:44929489:44929565 | 44922231:44922344 | ENSG00000196284.9 | ENST00000475057.1,ENST00000306867.5,ENST00000371459.1,ENST00000371460.1,ENST00000371461.2 |
| exon_skip_459900 | 6 | 44971389:44971529:44982537:44982628:44988282:44988363 | 44982537:44982628 | ENSG00000196284.9 | ENST00000475057.1,ENST00000306867.5,ENST00000371459.1,ENST00000371460.1,ENST00000371461.2 |
| exon_skip_459902 | 6 | 44988282:44988369:45073658:45073743:45332937:45333038 | 45073658:45073743 | ENSG00000196284.9 | ENST00000475057.1,ENST00000306867.5,ENST00000371459.1 |
| exon_skip_459903 | 6 | 45073658:45073743:45289532:45289628:45290615:45290653 | 45289532:45289628 | ENSG00000196284.9 | ENST00000371460.1,ENST00000371461.2 |
| exon_skip_459906 | 6 | 45073658:45073743:45332937:45333038:45345504:45345670 | 45332937:45333038 | ENSG00000196284.9 | ENST00000371459.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SUPT3H |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459890 | 6 | 44777053:44777238:44797500:44797594:44900389:44900500 | 44797500:44797594 | ENSG00000196284.9 | ENST00000475057.1 |
| exon_skip_459893 | 6 | 44797552:44797594:44900389:44900500:44921046:44921154 | 44900389:44900500 | ENSG00000196284.9 | ENST00000475057.1,ENST00000371460.1,ENST00000371459.1,ENST00000306867.5,ENST00000371461.2 |
| exon_skip_459898 | 6 | 44921046:44921154:44922231:44922344:44929489:44929565 | 44922231:44922344 | ENSG00000196284.9 | ENST00000475057.1,ENST00000371460.1,ENST00000371459.1,ENST00000306867.5,ENST00000371461.2 |
| exon_skip_459900 | 6 | 44971389:44971529:44982537:44982628:44988282:44988363 | 44982537:44982628 | ENSG00000196284.9 | ENST00000475057.1,ENST00000371460.1,ENST00000371459.1,ENST00000306867.5,ENST00000371461.2 |
| exon_skip_459902 | 6 | 44988282:44988369:45073658:45073743:45332937:45333038 | 45073658:45073743 | ENSG00000196284.9 | ENST00000475057.1,ENST00000371459.1,ENST00000306867.5 |
| exon_skip_459903 | 6 | 45073658:45073743:45289532:45289628:45290615:45290653 | 45289532:45289628 | ENSG00000196284.9 | ENST00000371460.1,ENST00000371461.2 |
| exon_skip_459906 | 6 | 45073658:45073743:45332937:45333038:45345504:45345670 | 45332937:45333038 | ENSG00000196284.9 | ENST00000371459.1 |
| 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 SUPT3H |
| 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 |
| ENST00000371459 | 44922231 | 44922344 | Frame-shift |
| ENST00000371459 | 44982537 | 44982628 | Frame-shift |
| ENST00000371459 | 45073658 | 45073743 | Frame-shift |
| ENST00000371459 | 44900389 | 44900500 | In-frame |
| ENST00000371459 | 45332937 | 45333038 | 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 |
| ENST00000371459 | 44922231 | 44922344 | Frame-shift |
| ENST00000371459 | 44982537 | 44982628 | Frame-shift |
| ENST00000371459 | 45073658 | 45073743 | Frame-shift |
| ENST00000371459 | 44900389 | 44900500 | In-frame |
| ENST00000371459 | 45332937 | 45333038 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SUPT3H |
| 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 |
| ENST00000371459 | 2108 | 317 | 45332937 | 45333038 | 167 | 267 | 0 | 33 |
| ENST00000371459 | 2108 | 317 | 44900389 | 44900500 | 968 | 1078 | 267 | 304 |
| 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 |
| ENST00000371459 | 2108 | 317 | 45332937 | 45333038 | 167 | 267 | 0 | 33 |
| ENST00000371459 | 2108 | 317 | 44900389 | 44900500 | 968 | 1078 | 267 | 304 |
| 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 |
| O75486 | 0 | 33 | 1 | 34 | Alternative sequence | ID=VSP_059496;Note=In isoform 2. MNNTAASPMSTATSSSGRSTGKSISFATELQSMM->MVVFGTTFFNFDSFIGKTDSIEIIGKSVFPYCYHNILPLLNDSGR |
| O75486 | 0 | 33 | 1 | 317 | Chain | ID=PRO_0000072313;Note=Transcription initiation protein SPT3 homolog |
| O75486 | 0 | 33 | 1 | 1 | Modified residue | Note=N-acetylmethionine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 |
| O75486 | 267 | 304 | 1 | 317 | Chain | ID=PRO_0000072313;Note=Transcription initiation protein SPT3 homolog |
| 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 |
| O75486 | 0 | 33 | 1 | 34 | Alternative sequence | ID=VSP_059496;Note=In isoform 2. MNNTAASPMSTATSSSGRSTGKSISFATELQSMM->MVVFGTTFFNFDSFIGKTDSIEIIGKSVFPYCYHNILPLLNDSGR |
| O75486 | 0 | 33 | 1 | 317 | Chain | ID=PRO_0000072313;Note=Transcription initiation protein SPT3 homolog |
| O75486 | 0 | 33 | 1 | 1 | Modified residue | Note=N-acetylmethionine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 |
| O75486 | 267 | 304 | 1 | 317 | Chain | ID=PRO_0000072313;Note=Transcription initiation protein SPT3 homolog |
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SNVs in the skipped exons for SUPT3H |
| - 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. |
SUPT3H_SKCM_exon_skip_459890_psi_boxplot.png |
| - 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_459898 | 44922232 | 44922344 | 44922325 | 44922325 | Frame_Shift_Del | A | - | p.F211fs |
| STAD | TCGA-F1-A448-01 | exon_skip_459898 | 44922232 | 44922344 | 44922337 | 44922337 | Frame_Shift_Del | T | - | p.A197fs |
| STAD | TCGA-F1-A448-01 | exon_skip_459898 | 44922232 | 44922344 | 44922337 | 44922337 | Frame_Shift_Del | T | - | p.A208fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_459900 | 44982538 | 44982628 | 44982572 | 44982572 | Frame_Shift_Del | A | - | p.I121fs |
| LGG | TCGA-QH-A6X8-01 | exon_skip_459903 | 45289533 | 45289628 | 45289563 | 45289563 | Frame_Shift_Del | T | - | p.N35fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_459900 | 44982538 | 44982628 | 44982604 | 44982605 | Frame_Shift_Ins | - | T | p.H111fs |
| SKCM | TCGA-EE-A2GM-06 | exon_skip_459890 | 44797501 | 44797594 | 44797595 | 44797595 | Splice_Site | C | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A2GM-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_459890 | |
| Skipped exon start: 44797501 | |
| Skipped exon end: 44797594 | |
| Mutation start: 44797595 | |
| Mutation end: 44797595 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_287167_SKCM_TCGA-EE-A2GM-06.png | |
exon_skip_459890_SKCM_TCGA-EE-A2GM-06.png | |
exon_skip_471343_SKCM_TCGA-EE-A2GM-06.png | |
exon_skip_472831_SKCM_TCGA-EE-A2GM-06.png | |
| - 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 |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 44797501 | 44797594 | 44797569 | 44797569 | Missense_Mutation | G | A | p.A313V |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44797501 | 44797594 | 44797584 | 44797584 | Missense_Mutation | C | A | p.R308L |
| HEC151_ENDOMETRIUM | 44797501 | 44797594 | 44797585 | 44797585 | Missense_Mutation | G | A | p.R308C |
| EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44900390 | 44900500 | 44900428 | 44900428 | Missense_Mutation | G | A | p.R292C |
| HOP62_LUNG | 44900390 | 44900500 | 44900451 | 44900451 | Missense_Mutation | C | A | p.C284F |
| KYSE450_OESOPHAGUS | 44900390 | 44900500 | 44900455 | 44900455 | Missense_Mutation | G | A | p.P283S |
| SCLC22H_LUNG | 44900390 | 44900500 | 44900467 | 44900467 | Missense_Mutation | C | A | p.D279Y |
| SCLC21H_LUNG | 44900390 | 44900500 | 44900467 | 44900467 | Missense_Mutation | C | A | p.D279Y |
| HCT15_LARGE_INTESTINE | 44900390 | 44900500 | 44900470 | 44900470 | Missense_Mutation | T | C | p.S278G |
| COLO794_SKIN | 44922232 | 44922344 | 44922246 | 44922246 | Missense_Mutation | C | T | p.E227K |
| COLO800_SKIN | 44922232 | 44922344 | 44922246 | 44922246 | Missense_Mutation | C | T | p.E227K |
| CCK81_LARGE_INTESTINE | 44982538 | 44982628 | 44982541 | 44982541 | Missense_Mutation | C | T | p.E121K |
| HEC251_ENDOMETRIUM | 45073659 | 45073743 | 45073668 | 45073668 | Missense_Mutation | T | G | p.L59F |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45289533 | 45289628 | 45289575 | 45289575 | Missense_Mutation | T | C | p.Y31C |
| SCS214_SOFT_TISSUE | 45289533 | 45289628 | 45289599 | 45289599 | Missense_Mutation | A | G | p.I23T |
| ESS1_ENDOMETRIUM | 44982538 | 44982628 | 44982592 | 44982592 | Nonsense_Mutation | G | A | p.R104* |
| DU4475_BREAST | 44982538 | 44982628 | 44982592 | 44982592 | Nonsense_Mutation | G | A | p.R104* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SUPT3H |
| 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 SUPT3H |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SUPT3H |
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RelatedDrugs for SUPT3H |
| 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 SUPT3H |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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