NUP98 nucleoporin 98 and 96 precursor
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 2 |
Benign | 0 | 20 |
Likely benign | 0 | 22 |
Uncertain significance | 0 | 158 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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196 |
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6 |
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 |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Target data | : |
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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Category | : |
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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 |
Type | ID |
---|---|
SYNONYM | ADIR2 |
SYNONYM | NUP196 |
SYNONYM | NUP96 |
SYNONYM | Nup98-96 |
MIM | 601021 OMIM |
HGNC | HGNC:8068 HGNC |
Ensembl | ENSG00000110713 Ensembl |
AllianceGenome | HGNC:8068 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000397004.9 | hg38 | chr11 | 3,711,553 | 3,797,561 | 86,009 |
ENST00000700609.1 | hg38 | chr11 | 3,748,846 | 3,797,561 | 48,716 |
ENST00000700608.1 | hg38 | chr11 | 3,711,882 | 3,797,561 | 85,680 |
ENST00000700603.1 | hg38 | chr11 | 3,675,888 | 3,797,521 | 121,634 |
ENST00000700607.1 | hg38 | chr11 | 3,711,575 | 3,797,452 | 85,878 |
ENST00000700606.1 | hg38 | chr11 | 3,711,575 | 3,793,931 | 82,357 |
ENST00000355260.8 | hg38 | chr11 | 3,675,030 | 3,797,792 | 122,763 |
ENST00000324932.12 | hg38 | chr11 | 3,675,019 | 3,797,554 | 122,536 |
ENST00000397007.10 | hg38 | chr11 | 3,711,553 | 3,797,554 | 86,002 |
ENST00000527104.6 | hg38 | chr11 | 3,675,030 | 3,797,554 | 122,525 |
ENST00000700598.1 | hg38 | chr11 | 3,675,030 | 3,797,548 | 122,519 |
ENST00000529379.2 | hg38 | chr11 | 3,675,026 | 3,797,561 | 122,536 |
ENST00000700597.1 | hg38 | chr11 | 3,675,030 | 3,797,507 | 122,478 |
ENST00000359171.8 | hg38 | chr11 | 3,675,011 | 3,797,792 | 122,782 |
ENST00000359171.8 | hg19 | chr11 | 3,696,241 | 3,819,022 | 122,782 |
ENST00000324932.12 | hg19 | chr11 | 3,696,249 | 3,818,784 | 122,536 |
ENST00000355260.8 | hg19 | chr11 | 3,696,260 | 3,819,022 | 122,763 |
ENST00000397004.9 | hg19 | chr11 | 3,732,783 | 3,818,791 | 86,009 |
ENST00000397007.10 | hg19 | chr11 | 3,732,783 | 3,818,784 | 86,002 |
ENST00000527104.6 | hg19 | chr11 | 3,696,260 | 3,818,784 | 122,525 |
ENST00000700606.1 | hg19 | chr11 | 3,732,805 | 3,815,161 | 82,357 |
ENST00000700607.1 | hg19 | chr11 | 3,732,805 | 3,818,682 | 85,878 |
ENST00000700608.1 | hg19 | chr11 | 3,733,112 | 3,818,791 | 85,680 |
ENST00000700609.1 | hg19 | chr11 | 3,770,076 | 3,818,791 | 48,716 |
ENST00000529379.2 | hg19 | chr11 | 3,696,256 | 3,818,791 | 122,536 |
ENST00000700597.1 | hg19 | chr11 | 3,696,260 | 3,818,737 | 122,478 |
ENST00000700598.1 | hg19 | chr11 | 3,696,260 | 3,818,778 | 122,519 |
ENST00000700603.1 | hg19 | chr11 | 3,697,118 | 3,818,751 | 121,634 |
Key | Value |
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strand | - |
start | 3,696,239 |
Gene Symbol | NUP98 |
Entrez GeneId | 4,928 |
Chr Band | 11p15 |
end | 3,819,021 |
chr | chr11 |
Name | nucleoporin 98kDa |
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