|
||||||
|
 | |
| |
| |
| |
| 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 TAF1 |
 Gene summary |
| Gene information | Gene symbol | TAF1 | Gene ID | 6872 |
| Gene name | TATA-box binding protein associated factor 1 | |
| Synonyms | BA2R|CCG1|CCGS|DYT3|DYT3/TAF1|KAT4|MRXS33|N-TAF1|NSCL2|OF|P250|TAF(II)250|TAF2A|TAFII-250|TAFII250|XDP | |
| Cytomap | Xq13.1 | |
| Type of gene | protein-coding | |
| Description | transcription initiation factor TFIID subunit 1TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDaTBP-associated factor 250 kDacell cycle gene 1 proteincell cycle, G1 phase defectcomplementation of cell cycle block, G1-to | |
| Modification date | 20180523 | |
| UniProtAcc | P21675 | |
| Context | PubMed: TAF1 [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 |
| TAF1 | GO:0000209 | protein polyubiquitination | 20181722 |
| TAF1 | GO:0006468 | protein phosphorylation | 18548200 |
| TAF1 | GO:0006511 | ubiquitin-dependent protein catabolic process | 20181722 |
| TAF1 | GO:0006974 | cellular response to DNA damage stimulus | 24289924 |
| TAF1 | GO:0018105 | peptidyl-serine phosphorylation | 8625415 |
| TAF1 | GO:0018107 | peptidyl-threonine phosphorylation | 15053879|24289924 |
| TAF1 | GO:0032092 | positive regulation of protein binding | 17237821 |
| TAF1 | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 15053879 |
| TAF1 | GO:0034644 | cellular response to UV | 24289924 |
| TAF1 | GO:0036369 | transcription factor catabolic process | 20181722 |
| TAF1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17996705 |
| TAF1 | GO:0046777 | protein autophosphorylation | 8625415|20181722|24289924 |
| TAF1 | GO:0050821 | protein stabilization | 17237821 |
| TAF1 | GO:0071318 | cellular response to ATP | 24289924 |
| TAF1 | GO:1903026 | negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 24289924 |
| TAF1 | GO:1905524 | negative regulation of protein autoubiquitination | 17237821 |
| TAF1 | GO:2000825 | positive regulation of androgen receptor activity | 20181722 |
Top |
Exon skipping events across known transcript of Ensembl for TAF1 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 TAF1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TAF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_511144 | X | 70595016:70595136:70596799:70597041:70597452:70597671 | 70596799:70597041 | ENSG00000147133.11 | ENST00000423759.1,ENST00000276072.3 |
| exon_skip_511145 | X | 70595016:70595136:70596862:70597041:70597452:70597671 | 70596862:70597041 | ENSG00000147133.11 | ENST00000373790.4,ENST00000449580.1 |
| exon_skip_511146 | X | 70608086:70608228:70608587:70608718:70609434:70609480 | 70608587:70608718 | ENSG00000147133.11 | ENST00000373790.4,ENST00000478305.1,ENST00000449580.1,ENST00000423759.1,ENST00000276072.3 |
| exon_skip_511147 | X | 70612724:70612844:70613150:70613326:70613916:70614095 | 70613150:70613326 | ENSG00000147133.11 | ENST00000373790.4,ENST00000449580.1,ENST00000423759.1,ENST00000276072.3 |
| exon_skip_511149 | X | 70613957:70614095:70617102:70617316:70618421:70618587 | 70617102:70617316 | ENSG00000147133.11 | ENST00000373790.4,ENST00000449580.1,ENST00000423759.1,ENST00000276072.3 |
| exon_skip_511150 | X | 70613957:70614095:70617105:70617316:70618421:70618587 | 70617105:70617316 | ENSG00000147133.11 | ENST00000483985.2 |
| exon_skip_511153 | X | 70641158:70641226:70642966:70643089:70643823:70643916 | 70642966:70643089 | ENSG00000147133.11 | ENST00000373790.4,ENST00000437147.3,ENST00000449580.1,ENST00000423759.1,ENST00000276072.3,ENST00000373775.4 |
| exon_skip_511156 | X | 70644003:70644088:70661549:70661571:70674019:70674087 | 70661549:70661571 | ENSG00000147133.11 | ENST00000468167.1 |
| exon_skip_511157 | X | 70644003:70644088:70674019:70674087:70674590:70674707 | 70674019:70674087 | ENSG00000147133.11 | ENST00000373790.4,ENST00000492404.1,ENST00000437147.3,ENST00000449580.1,ENST00000461764.1,ENST00000462588.1,ENST00000423759.1,ENST00000276072.3,ENST00000373775.4,ENST00000485087.1 |
| exon_skip_511159 | X | 70674590:70674707:70674856:70674862:70678090:70678207 | 70674856:70674862 | ENSG00000147133.11 | ENST00000468167.1,ENST00000423759.1,ENST00000373775.4 |
| exon_skip_511160 | X | 70678090:70678207:70678999:70679101:70679401:70679558 | 70678999:70679101 | ENSG00000147133.11 | ENST00000462588.1 |
| exon_skip_511163 | X | 70678122:70678216:70678999:70679101:70679401:70679558 | 70678999:70679101 | ENSG00000147133.11 | ENST00000437147.3,ENST00000449580.1,ENST00000461764.1,ENST00000482544.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TAF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_511144 | X | 70595016:70595136:70596799:70597041:70597452:70597671 | 70596799:70597041 | ENSG00000147133.11 | ENST00000423759.1,ENST00000276072.3 |
| exon_skip_511145 | X | 70595016:70595136:70596862:70597041:70597452:70597671 | 70596862:70597041 | ENSG00000147133.11 | ENST00000373790.4,ENST00000449580.1 |
| exon_skip_511146 | X | 70608086:70608228:70608587:70608718:70609434:70609480 | 70608587:70608718 | ENSG00000147133.11 | ENST00000373790.4,ENST00000449580.1,ENST00000423759.1,ENST00000276072.3,ENST00000478305.1 |
| exon_skip_511147 | X | 70612724:70612844:70613150:70613326:70613916:70614095 | 70613150:70613326 | ENSG00000147133.11 | ENST00000373790.4,ENST00000449580.1,ENST00000423759.1,ENST00000276072.3 |
| exon_skip_511149 | X | 70613957:70614095:70617102:70617316:70618421:70618587 | 70617102:70617316 | ENSG00000147133.11 | ENST00000373790.4,ENST00000449580.1,ENST00000423759.1,ENST00000276072.3 |
| exon_skip_511150 | X | 70613957:70614095:70617105:70617316:70618421:70618587 | 70617105:70617316 | ENSG00000147133.11 | ENST00000483985.2 |
| exon_skip_511153 | X | 70641158:70641226:70642966:70643089:70643823:70643916 | 70642966:70643089 | ENSG00000147133.11 | ENST00000373790.4,ENST00000449580.1,ENST00000423759.1,ENST00000276072.3,ENST00000437147.3,ENST00000373775.4 |
| exon_skip_511156 | X | 70644003:70644088:70661549:70661571:70674019:70674087 | 70661549:70661571 | ENSG00000147133.11 | ENST00000468167.1 |
| exon_skip_511157 | X | 70644003:70644088:70674019:70674087:70674590:70674707 | 70674019:70674087 | ENSG00000147133.11 | ENST00000373790.4,ENST00000449580.1,ENST00000423759.1,ENST00000276072.3,ENST00000437147.3,ENST00000373775.4,ENST00000462588.1,ENST00000485087.1,ENST00000461764.1,ENST00000492404.1 |
| exon_skip_511159 | X | 70674590:70674707:70674856:70674862:70678090:70678207 | 70674856:70674862 | ENSG00000147133.11 | ENST00000423759.1,ENST00000373775.4,ENST00000468167.1 |
| exon_skip_511160 | X | 70678090:70678207:70678999:70679101:70679401:70679558 | 70678999:70679101 | ENSG00000147133.11 | ENST00000462588.1 |
| exon_skip_511163 | X | 70678122:70678216:70678999:70679101:70679401:70679558 | 70678999:70679101 | ENSG00000147133.11 | ENST00000449580.1,ENST00000437147.3,ENST00000461764.1,ENST00000482544.1 |
| exon_skip_511166 | X | 70680475:70680653:70704733:70704843:70748391:70748575 | 70704733:70704843 | ENSG00000147133.11 | ENST00000467309.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TAF1 |
| 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 |
| ENST00000373790 | 70596862 | 70597041 | Frame-shift |
| ENST00000373790 | 70608587 | 70608718 | Frame-shift |
| ENST00000373790 | 70613150 | 70613326 | Frame-shift |
| ENST00000373790 | 70617102 | 70617316 | Frame-shift |
| ENST00000373790 | 70674019 | 70674087 | Frame-shift |
| ENST00000373790 | 70642966 | 70643089 | 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 |
| ENST00000373790 | 70596862 | 70597041 | Frame-shift |
| ENST00000373790 | 70608587 | 70608718 | Frame-shift |
| ENST00000373790 | 70613150 | 70613326 | Frame-shift |
| ENST00000373790 | 70617102 | 70617316 | Frame-shift |
| ENST00000373790 | 70674019 | 70674087 | Frame-shift |
| ENST00000373790 | 70642966 | 70643089 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TAF1 |
| 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 |
| ENST00000373790 | 7646 | 1872 | 70642966 | 70643089 | 4501 | 4623 | 1483 | 1524 |
| 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 |
| ENST00000373790 | 7646 | 1872 | 70642966 | 70643089 | 4501 | 4623 | 1483 | 1524 |
| 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 |
Top |
SNVs in the skipped exons for TAF1 |
| - 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-A1EG-01 | exon_skip_511146 | 70608588 | 70608718 | 70608622 | 70608622 | Frame_Shift_Del | T | - | p.D867fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_511146 | 70608588 | 70608718 | 70608628 | 70608628 | Frame_Shift_Del | T | - | p.R869fs |
| ACC | TCGA-OR-A5JA-01 | exon_skip_511145 | 70596800 | 70597041 | 70596893 | 70596893 | Nonsense_Mutation | C | A | p.S188* |
| ACC | TCGA-OR-A5JA-01 | exon_skip_511145 | 70596800 | 70597041 | 70596893 | 70596893 | Nonsense_Mutation | C | A | p.S188X |
| ACC | TCGA-OR-A5JA-01 | exon_skip_511145 | 70596800 | 70597041 | 70596893 | 70596893 | Nonsense_Mutation | C | A | p.S209X |
| ACC | TCGA-OR-A5JA-01 | exon_skip_511145 | 70596863 | 70597041 | 70596893 | 70596893 | Nonsense_Mutation | C | A | p.S188* |
| ACC | TCGA-OR-A5JA-01 | exon_skip_511145 | 70596863 | 70597041 | 70596893 | 70596893 | Nonsense_Mutation | C | A | p.S188X |
| ACC | TCGA-OR-A5JA-01 | exon_skip_511145 | 70596863 | 70597041 | 70596893 | 70596893 | Nonsense_Mutation | C | A | p.S209X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_511146 | 70608588 | 70608718 | 70608641 | 70608641 | Nonsense_Mutation | G | T | p.E895* |
| LUAD | TCGA-55-7910-01 | exon_skip_511146 | 70608588 | 70608718 | 70608668 | 70608668 | Nonsense_Mutation | G | T | p.E883* |
| - 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 |
| A172_CENTRAL_NERVOUS_SYSTEM | 70596800 | 70597041 | 70596911 | 70596911 | Missense_Mutation | C | T | p.P194L |
| A172_CENTRAL_NERVOUS_SYSTEM | 70596863 | 70597041 | 70596911 | 70596911 | Missense_Mutation | C | T | p.P194L |
| JHUEM7_ENDOMETRIUM | 70596800 | 70597041 | 70596932 | 70596932 | Missense_Mutation | A | C | p.E201A |
| JHUEM7_ENDOMETRIUM | 70596863 | 70597041 | 70596932 | 70596932 | Missense_Mutation | A | C | p.E201A |
| RCCFG2_KIDNEY | 70608588 | 70608718 | 70608602 | 70608602 | Missense_Mutation | T | C | p.W861R |
| EVSAT_BREAST | 70613151 | 70613326 | 70613164 | 70613164 | Missense_Mutation | C | G | p.S1021C |
| KYSE150_OESOPHAGUS | 70613151 | 70613326 | 70613167 | 70613167 | Missense_Mutation | G | A | p.R1022H |
| JHUEM1_ENDOMETRIUM | 70613151 | 70613326 | 70613167 | 70613167 | Missense_Mutation | G | A | p.R1022H |
| SAS_UPPER_AERODIGESTIVE_TRACT | 70613151 | 70613326 | 70613181 | 70613181 | Missense_Mutation | G | C | p.D1027H |
| HEC265_ENDOMETRIUM | 70613151 | 70613326 | 70613272 | 70613272 | Missense_Mutation | A | C | p.E1057A |
| SNU685_ENDOMETRIUM | 70613151 | 70613326 | 70613299 | 70613299 | Missense_Mutation | G | T | p.C1066F |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70613151 | 70613326 | 70613305 | 70613305 | Missense_Mutation | G | A | p.R1068H |
| LNCAPCLONEFGC_PROSTATE | 70617103 | 70617316 | 70617105 | 70617105 | Missense_Mutation | G | A | p.A1136T |
| LNCAPCLONEFGC_PROSTATE | 70617106 | 70617316 | 70617105 | 70617105 | Missense_Mutation | G | A | p.A1136T |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70617103 | 70617316 | 70617139 | 70617139 | Missense_Mutation | A | G | p.D1147G |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70617106 | 70617316 | 70617139 | 70617139 | Missense_Mutation | A | G | p.D1147G |
| NCIH2228_LUNG | 70617103 | 70617316 | 70617145 | 70617145 | Missense_Mutation | A | G | p.D1149G |
| NCIH2228_LUNG | 70617106 | 70617316 | 70617145 | 70617145 | Missense_Mutation | A | G | p.D1149G |
| SNU1040_LARGE_INTESTINE | 70617103 | 70617316 | 70617205 | 70617205 | Missense_Mutation | G | A | p.R1169H |
| SNU1040_LARGE_INTESTINE | 70617106 | 70617316 | 70617205 | 70617205 | Missense_Mutation | G | A | p.R1169H |
| SNUC2A_LARGE_INTESTINE | 70617103 | 70617316 | 70617286 | 70617286 | Missense_Mutation | G | A | p.R1196H |
| SNUC2A_LARGE_INTESTINE | 70617106 | 70617316 | 70617286 | 70617286 | Missense_Mutation | G | A | p.R1196H |
| SNUC2B_LARGE_INTESTINE | 70617103 | 70617316 | 70617286 | 70617286 | Missense_Mutation | G | A | p.R1196H |
| SNUC2B_LARGE_INTESTINE | 70617106 | 70617316 | 70617286 | 70617286 | Missense_Mutation | G | A | p.R1196H |
| TGBC11TKB_STOMACH | 70642967 | 70643089 | 70642986 | 70642986 | Missense_Mutation | G | A | p.R1490H |
| JHH1_LIVER | 70642967 | 70643089 | 70643015 | 70643015 | Missense_Mutation | G | T | p.D1500Y |
| CL34_LARGE_INTESTINE | 70642967 | 70643089 | 70643034 | 70643034 | Missense_Mutation | C | T | p.A1506V |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70642967 | 70643089 | 70643066 | 70643066 | Missense_Mutation | C | G | p.Q1517E |
| HT144_SKIN | 70642967 | 70643089 | 70643074 | 70643074 | Missense_Mutation | G | A | p.M1519I |
| GP5D_LARGE_INTESTINE | 70613151 | 70613326 | 70613208 | 70613208 | Nonsense_Mutation | C | T | p.Q1036* |
| MCC13_SKIN | 70617103 | 70617316 | 70617213 | 70617213 | Nonsense_Mutation | C | T | p.R1172* |
| MCC13_SKIN | 70617106 | 70617316 | 70617213 | 70617213 | Nonsense_Mutation | C | T | p.R1172* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TAF1 |
| 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 TAF1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TAF1 |
Top |
RelatedDrugs for TAF1 |
| 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 TAF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TAF1 | C4225418 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|