NUP85 nucleoporin 85
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 0 | 4 |
| Benign | 0 | 36 |
| Likely benign | 0 | 92 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 128 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
38 |
 |
220 |
 |
2 |
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
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | FROUNT |
| SYNONYM | NPHS17 |
| SYNONYM | Nup75 |
| MIM | 170285 OMIM |
| HGNC | HGNC:8734 HGNC |
| Ensembl | ENSG00000125450 Ensembl |
| AllianceGenome | HGNC:8734 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000540768.5 | hg38 | chr17 | 75,228,161 | 75,235,757 | 7,597 |
| ENST00000245544.9 | hg38 | chr17 | 75,205,679 | 75,235,758 | 30,080 |
| ENST00000579324.5 | hg38 | chr17 | 75,205,707 | 75,235,757 | 30,051 |
| ENST00000579298.5 | hg38 | chr17 | 75,205,720 | 75,235,691 | 29,972 |
| ENST00000245544.9 | hg19 | chr17 | 73,201,774 | 73,231,853 | 30,080 |
| ENST00000540768.5 | hg19 | chr17 | 73,224,256 | 73,231,852 | 7,597 |
| ENST00000579298.5 | hg19 | chr17 | 73,201,815 | 73,231,786 | 29,972 |
| ENST00000579324.5 | hg19 | chr17 | 73,201,802 | 73,231,852 | 30,051 |
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