RIPPLY1 ripply transcriptional repressor 1
Information
- Symbol
- RIPPLY1
- Type
- protein-coding
- Description
- ripply transcriptional repressor 1
- Entrez Gene ID
- 92129
- Genome
- hg19
- Position
- chrX:106,143,293-106,146,571
- Genome
- hg38
- Position
- chrX:106,900,063-106,903,341
- MIM
- 300575 OMIM
- HGNC
- HGNC:25117 HGNC
- Ensembl
- ENSG00000147223 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 6 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 20 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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32 |
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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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Filtering | : |
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
MIM | 300575 OMIM |
HGNC | HGNC:25117 HGNC |
Ensembl | ENSG00000147223 Ensembl |
AllianceGenome | HGNC:25117 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000411805.1 | hg38 | chrX | 106,900,326 | 106,903,335 | 3,010 |
ENST00000276173.5 | hg38 | chrX | 106,900,063 | 106,903,341 | 3,279 |
ENST00000276173.5 | hg19 | chrX | 106,143,293 | 106,146,571 | 3,279 |
ENST00000411805.1 | hg19 | chrX | 106,143,556 | 106,146,565 | 3,010 |
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