PRPF40B pre-mRNA processing factor 40 homolog B
Information
- Symbol
- PRPF40B
- Type
- protein-coding
- Description
- pre-mRNA processing factor 40 homolog B
- Entrez Gene ID
- 25766
- Genome
- hg19
- Position
- chr12:50,017,219-50,038,449
- Genome
- hg38
- Position
- chr12:49,623,436-49,644,666
- HGNC
- HGNC:25031 HGNC
- Ensembl
- ENSG00000110844 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 108 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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110 |
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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
[No Data.]
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 |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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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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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 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000261897.5 | hg38 | chr12 | 49,623,620 | 49,644,666 | 21,047 |
ENST00000380281.6 | hg38 | chr12 | 49,623,436 | 49,644,666 | 21,231 |
ENST00000548825.7 | hg38 | chr12 | 49,623,561 | 49,644,665 | 21,105 |
ENST00000380281.6 | hg19 | chr12 | 50,017,219 | 50,038,449 | 21,231 |
ENST00000548825.7 | hg19 | chr12 | 50,017,344 | 50,038,448 | 21,105 |
ENST00000261897.5 | hg19 | chr12 | 50,017,403 | 50,038,449 | 21,047 |
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