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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 SFRP4 |
Gene summary |
Gene information | Gene symbol | SFRP4 | Gene ID | 6424 |
Gene name | secreted frizzled related protein 4 | |
Synonyms | FRP-4|FRPHE|FRZB-2|PYL|sFRP-4 | |
Cytomap | 7p14.1 | |
Type of gene | protein-coding | |
Description | secreted frizzled-related protein 4frizzled protein, human endometriumsecreted frizzled-related protein 4; secreted frizzled-related protein 4 | |
Modification date | 20180523 | |
UniProtAcc | Q6FHJ7 | |
Context | PubMed: SFRP4 [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 |
SFRP4 | GO:0002092 | positive regulation of receptor internalization | 16151791 |
SFRP4 | GO:0010628 | positive regulation of gene expression | 18938133 |
SFRP4 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 18945944 |
SFRP4 | GO:0045606 | positive regulation of epidermal cell differentiation | 18938133 |
SFRP4 | GO:0055062 | phosphate ion homeostasis | 12952927|16151791 |
SFRP4 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 18945944 |
SFRP4 | GO:1902174 | positive regulation of keratinocyte apoptotic process | 18938133 |
SFRP4 | GO:2000119 | negative regulation of sodium-dependent phosphate transport | 12952927|16151791 |
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Exon skipping events across known transcript of Ensembl for SFRP4 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 SFRP4 |
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 SFRP4 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_474763 | 7 | 37951720:37951919:37953814:37953880:37953974:37954055 | 37953814:37953880 | ENSG00000106483.7 | ENST00000436072.2,ENST00000447200.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SFRP4 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_474763 | 7 | 37951720:37951919:37953814:37953880:37953974:37954055 | 37953814:37953880 | ENSG00000106483.7 | ENST00000436072.2,ENST00000447200.2 |
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 SFRP4 |
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 |
ENST00000436072 | 37953814 | 37953880 | 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 |
ENST00000436072 | 37953814 | 37953880 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SFRP4 |
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 |
ENST00000436072 | 2974 | 346 | 37953814 | 37953880 | 905 | 970 | 175 | 197 |
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 |
ENST00000436072 | 2974 | 346 | 37953814 | 37953880 | 905 | 970 | 175 | 197 |
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 |
Q6FHJ7 | 175 | 197 | 19 | 346 | Chain | ID=PRO_0000032550;Note=Secreted frizzled-related protein 4 |
Q6FHJ7 | 175 | 197 | 178 | 307 | Domain | Note=NTR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00295 |
Q6FHJ7 | 175 | 197 | 194 | 194 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q6FHJ7 | 175 | 197 | 19 | 346 | Chain | ID=PRO_0000032550;Note=Secreted frizzled-related protein 4 |
Q6FHJ7 | 175 | 197 | 178 | 307 | Domain | Note=NTR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00295 |
Q6FHJ7 | 175 | 197 | 194 | 194 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SFRP4 |
- 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-A39Y-01 | exon_skip_474763 | 37953815 | 37953880 | 37953847 | 37953847 | Frame_Shift_Del | A | - | p.L187fs |
- 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 |
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 37953815 | 37953880 | 37953842 | 37953842 | Missense_Mutation | T | C | p.T189A |
CORL88_LUNG | 37953815 | 37953880 | 37953822 | 37953822 | Nonsense_Mutation | G | C | p.Y195* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SFRP4 |
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 SFRP4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SFRP4 |
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RelatedDrugs for SFRP4 |
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 |
Q6FHJ7 | DB00606 | Cyclothiazide | Secreted frizzled-related protein 4 | small molecule | approved | |
Q6FHJ7 | DB00790 | Perindopril | Secreted frizzled-related protein 4 | small molecule | approved |
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RelatedDiseases for SFRP4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
SFRP4 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
SFRP4 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
SFRP4 | C0029927 | Ovarian Cysts | 1 | CTD_human |
SFRP4 | C0993582 | Arthritis, Experimental | 1 | CTD_human |