NCOA4 nuclear receptor coactivator 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 12 |
Likely benign | 0 | 10 |
not provided | 1 | 2 |
Uncertain significance | 0 | 38 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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56 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ARA70 |
SYNONYM | ELE1 |
SYNONYM | PTC3 |
SYNONYM | RFG |
MIM | 601984 OMIM |
HGNC | HGNC:7671 HGNC |
Ensembl | ENSG00000266412 Ensembl |
AllianceGenome | HGNC:7671 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000581486.6 | hg38 | chr10 | 46,005,088 | 46,030,623 | 25,536 |
ENST00000585056.5 | hg38 | chr10 | 46,006,173 | 46,030,615 | 24,443 |
ENST00000579039.2 | hg38 | chr10 | 46,006,427 | 46,030,615 | 24,189 |
ENST00000585132.5 | hg38 | chr10 | 46,005,088 | 46,023,455 | 18,368 |
ENST00000583565.5 | hg38 | chr10 | 46,006,295 | 46,019,537 | 13,243 |
ENST00000578454.5 | hg38 | chr10 | 46,006,412 | 46,030,607 | 24,196 |
ENST00000580070.5 | hg38 | chr10 | 46,006,378 | 46,030,592 | 24,215 |
ENST00000581486.6 | hg19 | chr10 | 51,565,199 | 51,590,734 | 25,536 |
ENST00000585056.5 | hg19 | chr10 | 51,565,207 | 51,589,649 | 24,443 |
ENST00000578454.5 | hg19 | chr10 | 51,565,215 | 51,589,410 | 24,196 |
ENST00000579039.2 | hg19 | chr10 | 51,565,207 | 51,589,395 | 24,189 |
ENST00000580070.5 | hg19 | chr10 | 51,565,230 | 51,589,444 | 24,215 |
ENST00000585132.5 | hg19 | chr10 | 51,572,367 | 51,590,734 | 18,368 |
ENST00000583565.5 | hg19 | chr10 | 51,576,285 | 51,589,527 | 13,243 |
Key | Value |
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strand | + |
UniProt | OG |
start | 51,565,107 |
Gene Symbol | NCOA4 |
Entrez GeneId | 8,031 |
Chr Band | 10q11.2 |
end | 51,590,733 |
chr | chr10 |
Name | nuclear receptor coactivator 4 - PTC3 (ELE1) |
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