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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 WNT7A |
Gene summary |
Gene information | Gene symbol | WNT7A | Gene ID | 7476 |
Gene name | Wnt family member 7A | |
Synonyms | - | |
Cytomap | 3p25.1 | |
Type of gene | protein-coding | |
Description | protein Wnt-7aproto-oncogene Wnt7a proteinwingless-type MMTV integration site family, member 7A | |
Modification date | 20180523 | |
UniProtAcc | O00755 | |
Context | PubMed: WNT7A [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 |
WNT7A | GO:0001502 | cartilage condensation | 17202865 |
WNT7A | GO:0002062 | chondrocyte differentiation | 17202865 |
WNT7A | GO:0021846 | cell proliferation in forebrain | 12843296 |
WNT7A | GO:0032270 | positive regulation of cellular protein metabolic process | 16805831 |
WNT7A | GO:0035659 | Wnt signaling pathway involved in wound healing, spreading of epidermal cells | 15802269 |
WNT7A | GO:0045893 | positive regulation of transcription, DNA-templated | 15802269 |
WNT7A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12857724 |
WNT7A | GO:0048864 | stem cell development | 12843296 |
WNT7A | GO:0050768 | negative regulation of neurogenesis | 12843296 |
WNT7A | GO:0051965 | positive regulation of synapse assembly | 18986540 |
WNT7A | GO:0060054 | positive regulation of epithelial cell proliferation involved in wound healing | 15802269 |
WNT7A | GO:0060070 | canonical Wnt signaling pathway | 12857724|15802269|18986540|28733458 |
WNT7A | GO:0060997 | dendritic spine morphogenesis | 21670302 |
WNT7A | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 16805831 |
WNT7A | GO:1904891 | positive regulation of excitatory synapse assembly | 21670302 |
WNT7A | GO:2000463 | positive regulation of excitatory postsynaptic potential | 21670302 |
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Exon skipping events across known transcript of Ensembl for WNT7A 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 WNT7A |
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 WNT7A |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_381514 | 3 | 13857754:13860920:13896028:13896300:13916443:13916610 | 13896028:13896300 | ENSG00000154764.5 | ENST00000285018.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WNT7A |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
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 WNT7A |
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 |
ENST00000285018 | 13896028 | 13896300 | Frame-shift |
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 WNT7A |
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 |
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SNVs in the skipped exons for WNT7A |
- 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 |
SKCM | TCGA-EE-A2A2-06 | exon_skip_381514 | 13896029 | 13896300 | 13896034 | 13896034 | Nonsense_Mutation | G | A | p.R189* |
SKCM | TCGA-EE-A2A2-06 | exon_skip_381514 | 13896029 | 13896300 | 13896034 | 13896034 | Nonsense_Mutation | G | A | p.R189X |
SKCM | TCGA-FS-A1ZF-06 | exon_skip_381514 | 13896029 | 13896300 | 13896034 | 13896034 | Nonsense_Mutation | G | A | p.R189* |
SKCM | TCGA-FS-A1ZF-06 | exon_skip_381514 | 13896029 | 13896300 | 13896034 | 13896034 | Nonsense_Mutation | G | A | p.R189X |
- 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 |
MDAMB453_BREAST | 13896029 | 13896300 | 13896064 | 13896064 | Missense_Mutation | G | A | p.L179F |
HCC2218_BREAST | 13896029 | 13896300 | 13896077 | 13896077 | Missense_Mutation | C | G | p.Q174H |
KS1_CENTRAL_NERVOUS_SYSTEM | 13896029 | 13896300 | 13896096 | 13896096 | Missense_Mutation | T | C | p.D168G |
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13896029 | 13896300 | 13896108 | 13896108 | Missense_Mutation | T | C | p.K164R |
SNU175_LARGE_INTESTINE | 13896029 | 13896300 | 13896112 | 13896112 | Missense_Mutation | C | T | p.A163T |
PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13896029 | 13896300 | 13896123 | 13896124 | Missense_Mutation | CC | TT | p.G159N |
SKMEL2_SKIN | 13896029 | 13896300 | 13896130 | 13896130 | Missense_Mutation | G | A | p.R157C |
HEC151_ENDOMETRIUM | 13896029 | 13896300 | 13896169 | 13896169 | Missense_Mutation | C | T | p.D144N |
SNU46_UPPER_AERODIGESTIVE_TRACT | 13896029 | 13896300 | 13896181 | 13896181 | Missense_Mutation | G | C | p.Q140E |
NCIH820_LUNG | 13896029 | 13896300 | 13896211 | 13896211 | Missense_Mutation | C | T | p.D130N |
PA1_OVARY | 13896029 | 13896300 | 13896228 | 13896228 | Missense_Mutation | G | A | p.T124I |
PACADD137_PANCREAS | 13896029 | 13896300 | 13896262 | 13896262 | Missense_Mutation | C | T | p.A113T |
MRKNU1_BREAST | 13896029 | 13896300 | 13896295 | 13896295 | Missense_Mutation | G | C | p.R102G |
HEC108_ENDOMETRIUM | 13896029 | 13896300 | 13896297 | 13896297 | Missense_Mutation | C | T | p.S101N |
UACC257_SKIN | 13896029 | 13896300 | 13896158 | 13896158 | Nonsense_Mutation | C | T | p.W147* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WNT7A |
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 WNT7A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WNT7A |
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RelatedDrugs for WNT7A |
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 WNT7A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
WNT7A | C1848651 | Al Awadi syndrome | 4 | CTD_human;ORPHANET;UNIPROT |
WNT7A | C0042065 | Genitourinary Neoplasms | 1 | CTD_human |
WNT7A | C0919267 | ovarian neoplasm | 1 | CTD_human |
WNT7A | C1720887 | Female Urogenital Diseases | 1 | CTD_human |
WNT7A | C1856728 | Fuhrmann syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
WNT7A | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |