HNRNPDL heterogeneous nuclear ribonucleoprotein D like
Information
- Symbol
- HNRNPDL
- Type
- protein-coding
- Description
- heterogeneous nuclear ribonucleoprotein D like
- Entrez Gene ID
- 9987
- Genome
- hg19
- Position
- chr4:83,343,722-83,351,615
- Genome
- hg38
- Position
- chr4:82,422,569-82,430,462
- MIM
- 607137 OMIM
- HGNC
- HGNC:5037 HGNC
- Ensembl
- ENSG00000152795 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 44 |
Likely benign | 0 | 292 |
Conflicting classifications of pathogenicity | 0 | 20 |
Uncertain significance | 0 | 404 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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96 |
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644 |
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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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Category | : |
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Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
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 |
---|---|
SYNONYM | HNRNP |
SYNONYM | HNRPDL |
SYNONYM | JKTBP |
SYNONYM | JKTBP2 |
SYNONYM | LGMD1G |
SYNONYM | LGMDD3 |
SYNONYM | laAUF1 |
MIM | 607137 OMIM |
HGNC | HGNC:5037 HGNC |
Ensembl | ENSG00000152795 Ensembl |
AllianceGenome | HGNC:5037 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000295470.10 | hg38 | chr4 | 82,422,569 | 82,430,462 | 7,894 |
ENST00000614627.4 | hg38 | chr4 | 82,422,565 | 82,430,225 | 7,661 |
ENST00000602300.5 | hg38 | chr4 | 82,424,629 | 82,429,441 | 4,813 |
ENST00000621267.4 | hg38 | chr4 | 82,422,565 | 82,430,225 | 7,661 |
ENST00000630827.1 | hg38 | chr4 | 82,424,631 | 82,430,399 | 5,769 |
ENST00000507721.5 | hg38 | chr4 | 82,424,625 | 82,429,397 | 4,773 |
ENST00000614627.4 | hg19 | chr4 | 83,343,718 | 83,351,378 | 7,661 |
ENST00000621267.4 | hg19 | chr4 | 83,343,718 | 83,351,378 | 7,661 |
ENST00000295470.10 | hg19 | chr4 | 83,343,722 | 83,351,615 | 7,894 |
ENST00000507721.5 | hg19 | chr4 | 83,345,778 | 83,350,550 | 4,773 |
ENST00000602300.5 | hg19 | chr4 | 83,345,782 | 83,350,594 | 4,813 |
ENST00000630827.1 | hg19 | chr4 | 83,345,784 | 83,351,552 | 5,769 |
Key | Value |
---|---|
strand | - |
start | 83,343,716 |
Gene Symbol | HNRNPDL |
Entrez GeneId | 9,987 |
Chr Band | 4q21.22 |
end | 83,351,377 |
chr | chr4 |
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