|
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | 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 ZNF750 |
Gene summary |
| Gene information | Gene symbol | ZNF750 | Gene ID | 79755 |
| Gene name | zinc finger protein 750 | |
| Synonyms | ZFP750 | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein 750protein ZNF750 | |
| Modification date | 20180519 | |
| UniProtAcc | Q32MQ0 | |
| Context | PubMed: ZNF750 [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 |
| ZNF750 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22364861 |
Top |
Exon skipping events across known transcript of Ensembl for ZNF750 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 ZNF750 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for ZNF750 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_295230 | 17 | 80787804:80788753:80788894:80789362:80797802:80797898 | 80788894:80789362 | ENSG00000141579.6 | ENST00000572562.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for ZNF750 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_295230 | 17 | 80787804:80788753:80788894:80789362:80797802:80797898 | 80788894:80789362 | ENSG00000141579.6 | ENST00000572562.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ZNF750 |
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 |
Top |
Infer the effects of exon skipping event on protein functional features for ZNF750 |
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 |
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 |
Top |
SNVs in the skipped exons for ZNF750 |
- 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 |
| BLCA | TCGA-FD-A3SL-01 | exon_skip_295230 | 80788895 | 80789362 | 80789041 | 80789042 | Frame_Shift_Ins | - | A | p.L430fs |
| HNSC | TCGA-CV-A45Z-01 | exon_skip_295230 | 80788895 | 80789362 | 80789123 | 80789124 | Frame_Shift_Ins | - | G | p.R403fs |
| LUSC | TCGA-66-2782-01 | exon_skip_295230 | 80788895 | 80789362 | 80789004 | 80789004 | Nonsense_Mutation | C | A | p.G443* |
| BLCA | TCGA-XF-AAN0-01 | exon_skip_295230 | 80788895 | 80789362 | 80789145 | 80789145 | Nonsense_Mutation | C | A | p.E396* |
| STAD | TCGA-HU-A4G8-01 | exon_skip_295230 | 80788895 | 80789362 | 80789298 | 80789298 | Nonsense_Mutation | G | A | p.Q345* |
| STAD | TCGA-HU-A4G8-01 | exon_skip_295230 | 80788895 | 80789362 | 80789298 | 80789298 | Nonsense_Mutation | G | A | p.Q345X |
- 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 |
| SNU1079_BILIARY_TRACT | 80788895 | 80789362 | 80788962 | 80788962 | Missense_Mutation | G | C | p.P457A |
| TCCPAN2_PANCREAS | 80788895 | 80789362 | 80788962 | 80788962 | Missense_Mutation | G | C | p.P457A |
| HUO9_BONE | 80788895 | 80789362 | 80788962 | 80788962 | Missense_Mutation | G | C | p.P457A |
| SNU738_CENTRAL_NERVOUS_SYSTEM | 80788895 | 80789362 | 80788995 | 80788995 | Missense_Mutation | A | T | p.Y446N |
| NCIH2882_LUNG | 80788895 | 80789362 | 80789105 | 80789105 | Missense_Mutation | G | A | p.T409M |
| JHUEM7_ENDOMETRIUM | 80788895 | 80789362 | 80788895 | 80788895 | Splice_Site | C | T | p.S479N |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF750 |
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 ZNF750 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF750 |
Top |
RelatedDrugs for ZNF750 |
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 ZNF750 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |