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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 DAXX |
 Gene summary |
| Gene information | Gene symbol | DAXX | Gene ID | 1616 |
| Gene name | death domain associated protein | |
| Synonyms | BING2|DAP6|EAP1 | |
| Cytomap | 6p21.32 | |
| Type of gene | protein-coding | |
| Description | death domain-associated protein 6CENP-C binding proteinETS1-associated protein 1Fas-binding proteindeath-associated protein 6fas death domain-associated protein | |
| Modification date | 20180522 | |
| UniProtAcc | Q9UER7 | |
| Context | PubMed: DAXX [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 |
| DAXX | GO:0006334 | nucleosome assembly | 20504901|20651253 |
| DAXX | GO:0006338 | chromatin remodeling | 20651253 |
| DAXX | GO:0006355 | regulation of transcription, DNA-templated | 15878163 |
| DAXX | GO:0030521 | androgen receptor signaling pathway | 15572661 |
| DAXX | GO:0031396 | regulation of protein ubiquitination | 18566590 |
| DAXX | GO:0034605 | cellular response to heat | 15016915 |
| DAXX | GO:0034620 | cellular response to unfolded protein | 15016915 |
| DAXX | GO:0045892 | negative regulation of transcription, DNA-templated | 12140263|15572661 |
| DAXX | GO:0071276 | cellular response to cadmium ion | 15016915 |
| DAXX | GO:0071280 | cellular response to copper ion | 15016915 |
| DAXX | GO:0072738 | cellular response to diamide | 15016915 |
| DAXX | GO:1903936 | cellular response to sodium arsenite | 15016915 |
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Exon skipping events across known transcript of Ensembl for DAXX 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 DAXX |
| 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 DAXX |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_458617 | 6 | 33288161:33288368:33288512:33289344:33289495:33289646 | 33288512:33289344 | ENSG00000204209.6 | ENST00000266000.6,ENST00000374542.5 |
| exon_skip_458618 | 6 | 33288161:33288368:33288512:33289344:33290638:33290695 | 33288512:33289344 | ENSG00000204209.6 | ENST00000414083.2 |
| exon_skip_458630 | 6 | 33289162:33289344:33289495:33289754:33290638:33290695 | 33289495:33289754 | ENSG00000204209.6 | ENST00000374542.5 |
| exon_skip_458631 | 6 | 33289162:33289344:33289495:33289785:33290638:33290722 | 33289495:33289785 | ENSG00000204209.6 | ENST00000446403.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DAXX |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_458617 | 6 | 33288161:33288368:33288512:33289344:33289495:33289646 | 33288512:33289344 | ENSG00000204209.6 | ENST00000266000.6,ENST00000374542.5 |
| exon_skip_458618 | 6 | 33288161:33288368:33288512:33289344:33290638:33290695 | 33288512:33289344 | ENSG00000204209.6 | ENST00000414083.2 |
| exon_skip_458630 | 6 | 33289162:33289344:33289495:33289754:33290638:33290695 | 33289495:33289754 | ENSG00000204209.6 | ENST00000374542.5 |
| exon_skip_458631 | 6 | 33289162:33289344:33289495:33289785:33290638:33290722 | 33289495:33289785 | ENSG00000204209.6 | ENST00000446403.1 |
| 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 DAXX |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for DAXX |
| 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 DAXX |
| - 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 |
| ACC | TCGA-OR-A5JE-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33288834 | 33288835 | Frame_Shift_Del | AT | - | p.165_165del |
| ACC | TCGA-OR-A5JE-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33288834 | 33288835 | Frame_Shift_Del | AT | - | p.252_252del |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33289130 | 33289130 | Frame_Shift_Del | T | - | p.K142fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33289253 | 33289253 | Frame_Shift_Del | A | - | p.L100fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33288600 | 33288600 | Nonsense_Mutation | G | A | p.R318* |
| STAD | TCGA-D7-A4YV-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33288600 | 33288600 | Nonsense_Mutation | G | A | p.R330X |
| ACC | TCGA-OR-A5K8-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33288624 | 33288624 | Nonsense_Mutation | G | A | p.Q235X |
| ACC | TCGA-OR-A5K8-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33288624 | 33288624 | Nonsense_Mutation | G | A | p.Q310* |
| ACC | TCGA-OR-A5K8-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33288624 | 33288624 | Nonsense_Mutation | G | A | p.Q322X |
| STAD | TCGA-HU-A4GX-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33288840 | 33288840 | Nonsense_Mutation | G | A | p.R238* |
| STAD | TCGA-HU-A4GX-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33288840 | 33288840 | Nonsense_Mutation | G | A | p.R250X |
| ESCA | TCGA-2H-A9GK-01 | exon_skip_458618 exon_skip_458617 | 33288513 | 33289344 | 33289323 | 33289323 | Nonsense_Mutation | G | A | p.Q77* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_458617 | |
| Skipped exon start: 33288513 | |
| Skipped exon end: 33289344 | |
| Mutation start: 33288840 | |
| Mutation end: 33288840 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R250X | |
| Sample: TCGA-HU-A4GX-01 |
| Cancer type: STAD | |
| ESID: exon_skip_458617 | |
| Skipped exon start: 33288513 | |
| Skipped exon end: 33289344 | |
| Mutation start: 33288840 | |
| Mutation end: 33288840 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R238* | |
exon_skip_314019_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_3151_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_339350_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_339351_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_339352_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_353916_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_376639_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_377238_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_42171_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_425815_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_432212_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_4414_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_458618_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_459316_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_91143_STAD_TCGA-HU-A4GX-01.png | |
exon_skip_95945_STAD_TCGA-HU-A4GX-01.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 |
| C33A_CERVIX | 33288513 | 33289344 | 33288805 | 33288805 | Frame_Shift_Del | G | - | p.T249fs |
| SISO_CERVIX | 33288513 | 33289344 | 33288635 | 33288636 | Frame_Shift_Ins | - | G | p.R306fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33288513 | 33289344 | 33288635 | 33288636 | Frame_Shift_Ins | - | G | p.R306fs |
| NCIH1651_LUNG | 33289496 | 33289785 | 33289506 | 33289507 | Frame_Shift_Ins | - | G | p.L66fs |
| NCIH1651_LUNG | 33289496 | 33289754 | 33289506 | 33289507 | Frame_Shift_Ins | - | G | p.L66fs |
| GP5D_LARGE_INTESTINE | 33288513 | 33289344 | 33288584 | 33288584 | Missense_Mutation | C | T | p.R323K |
| HARA_LUNG | 33288513 | 33289344 | 33288635 | 33288635 | Missense_Mutation | C | A | p.R306L |
| JL1_PLEURA | 33288513 | 33289344 | 33288656 | 33288656 | Missense_Mutation | C | T | p.R299Q |
| HEC50B_ENDOMETRIUM | 33288513 | 33289344 | 33288735 | 33288735 | Missense_Mutation | G | A | p.R273W |
| OVK18_OVARY | 33288513 | 33289344 | 33288764 | 33288764 | Missense_Mutation | C | T | p.R263H |
| SHP77_LUNG | 33288513 | 33289344 | 33288875 | 33288875 | Missense_Mutation | G | C | p.A226G |
| MEWO_SKIN | 33288513 | 33289344 | 33288893 | 33288893 | Missense_Mutation | G | A | p.S220F |
| CORL95_LUNG | 33288513 | 33289344 | 33288915 | 33288915 | Missense_Mutation | A | G | p.S213P |
| KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33288513 | 33289344 | 33289007 | 33289007 | Missense_Mutation | C | T | p.R182H |
| MFE319_ENDOMETRIUM | 33288513 | 33289344 | 33289026 | 33289026 | Missense_Mutation | A | C | p.S176A |
| SNU324_PANCREAS | 33288513 | 33289344 | 33289038 | 33289038 | Missense_Mutation | C | T | p.E172K |
| HCC1599_BREAST | 33288513 | 33289344 | 33289067 | 33289067 | Missense_Mutation | G | A | p.T162I |
| HCC1599_MATCHED_NORMAL_TISSUE | 33288513 | 33289344 | 33289067 | 33289067 | Missense_Mutation | G | A | p.T162I |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33288513 | 33289344 | 33289089 | 33289089 | Missense_Mutation | G | T | p.P155T |
| PANC0813_PANCREAS | 33288513 | 33289344 | 33289094 | 33289094 | Missense_Mutation | T | C | p.N153S |
| JHUEM1_ENDOMETRIUM | 33288513 | 33289344 | 33289140 | 33289140 | Missense_Mutation | A | G | p.S138P |
| CP50EBV_MATCHED_NORMAL_TISSUE | 33288513 | 33289344 | 33289143 | 33289143 | Missense_Mutation | G | A | p.H137Y |
| CP50MELB_SKIN | 33288513 | 33289344 | 33289143 | 33289143 | Missense_Mutation | G | A | p.H137Y |
| NCIBL1770_MATCHED_NORMAL_TISSUE | 33288513 | 33289344 | 33289169 | 33289169 | Missense_Mutation | T | C | p.N128S |
| NCIH1770_LUNG | 33288513 | 33289344 | 33289169 | 33289169 | Missense_Mutation | T | C | p.N128S |
| NCIH2106_LUNG | 33288513 | 33289344 | 33289169 | 33289169 | Missense_Mutation | T | C | p.N128S |
| HEC265_ENDOMETRIUM | 33288513 | 33289344 | 33289244 | 33289244 | Missense_Mutation | G | A | p.A103V |
| MDAPCA2B_PROSTATE | 33288513 | 33289344 | 33289271 | 33289271 | Missense_Mutation | C | T | p.R94H |
| HEC251_ENDOMETRIUM | 33289496 | 33289785 | 33289545 | 33289545 | Missense_Mutation | G | A | p.S53L |
| HEC251_ENDOMETRIUM | 33289496 | 33289754 | 33289545 | 33289545 | Missense_Mutation | G | A | p.S53L |
| IPC298_SKIN | 33289496 | 33289785 | 33289545 | 33289545 | Missense_Mutation | G | A | p.S53L |
| IPC298_SKIN | 33289496 | 33289754 | 33289545 | 33289545 | Missense_Mutation | G | A | p.S53L |
| SNU1040_LARGE_INTESTINE | 33289496 | 33289785 | 33289609 | 33289609 | Missense_Mutation | C | T | p.A32T |
| SNU1040_LARGE_INTESTINE | 33289496 | 33289754 | 33289609 | 33289609 | Missense_Mutation | C | T | p.A32T |
| SARC9371_BONE | 33289496 | 33289785 | 33289617 | 33289617 | Missense_Mutation | G | A | p.P29L |
| SARC9371_BONE | 33289496 | 33289754 | 33289617 | 33289617 | Missense_Mutation | G | A | p.P29L |
| SARC9371_BONE | 33289496 | 33289785 | 33289618 | 33289618 | Missense_Mutation | G | A | p.P29S |
| SARC9371_BONE | 33289496 | 33289754 | 33289618 | 33289618 | Missense_Mutation | G | A | p.P29S |
| CHP126_AUTONOMIC_GANGLIA | 33289496 | 33289785 | 33289645 | 33289645 | Missense_Mutation | C | T | p.A20T |
| CHP126_AUTONOMIC_GANGLIA | 33289496 | 33289754 | 33289645 | 33289645 | Missense_Mutation | C | T | p.A20T |
| HCT15_LARGE_INTESTINE | 33289496 | 33289785 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| HCT15_LARGE_INTESTINE | 33289496 | 33289754 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| HEC1A_ENDOMETRIUM | 33289496 | 33289785 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| HEC1A_ENDOMETRIUM | 33289496 | 33289754 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| HEC1_ENDOMETRIUM | 33289496 | 33289785 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| HEC1_ENDOMETRIUM | 33289496 | 33289754 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| HEC1B_ENDOMETRIUM | 33289496 | 33289785 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| HEC1B_ENDOMETRIUM | 33289496 | 33289754 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| HRT18_LARGE_INTESTINE | 33289496 | 33289785 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| HRT18_LARGE_INTESTINE | 33289496 | 33289754 | 33289693 | 33289693 | Missense_Mutation | C | T | p.A4T |
| SNU1040_LARGE_INTESTINE | 33288513 | 33289344 | 33288600 | 33288600 | Nonsense_Mutation | G | A | p.R318* |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33288513 | 33289344 | 33288840 | 33288840 | Nonsense_Mutation | G | A | p.R238* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DAXX |
| 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 DAXX |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DAXX |
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RelatedDrugs for DAXX |
| 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 DAXX |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DAXX | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| DAXX | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| DAXX | C0206754 | Neuroendocrine Tumors | 1 | CTD_human |
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