NOP2 NOP2 nucleolar protein
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 14 |
| Likely benign | 0 | 14 |
| Uncertain significance | 0 | 100 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
128 |
 |
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 |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | NOL1 |
| SYNONYM | NOP120 |
| SYNONYM | NSUN1 |
| SYNONYM | p120 |
| MIM | 164031 OMIM |
| HGNC | HGNC:7867 HGNC |
| Ensembl | ENSG00000111641 Ensembl |
| AllianceGenome | HGNC:7867 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000382421.7 | hg38 | chr12 | 6,556,871 | 6,568,278 | 11,408 |
| ENST00000537442.5 | hg38 | chr12 | 6,556,863 | 6,567,962 | 11,100 |
| ENST00000540228.1 | hg38 | chr12 | 6,566,262 | 6,568,297 | 2,036 |
| ENST00000541778.5 | hg38 | chr12 | 6,556,871 | 6,568,691 | 11,821 |
| ENST00000545915.5 | hg38 | chr12 | 6,566,260 | 6,568,325 | 2,066 |
| ENST00000399466.6 | hg38 | chr12 | 6,556,871 | 6,568,286 | 11,416 |
| ENST00000322166.10 | hg38 | chr12 | 6,556,871 | 6,568,291 | 11,421 |
| ENST00000545200.5 | hg38 | chr12 | 6,556,871 | 6,568,282 | 11,412 |
| ENST00000382421.7 | hg19 | chr12 | 6,666,037 | 6,677,444 | 11,408 |
| ENST00000399466.6 | hg19 | chr12 | 6,666,037 | 6,677,452 | 11,416 |
| ENST00000322166.10 | hg19 | chr12 | 6,666,037 | 6,677,457 | 11,421 |
| ENST00000541778.5 | hg19 | chr12 | 6,666,037 | 6,677,857 | 11,821 |
| ENST00000537442.5 | hg19 | chr12 | 6,666,029 | 6,677,128 | 11,100 |
| ENST00000540228.1 | hg19 | chr12 | 6,675,428 | 6,677,463 | 2,036 |
| ENST00000545200.5 | hg19 | chr12 | 6,666,037 | 6,677,448 | 11,412 |
| ENST00000545915.5 | hg19 | chr12 | 6,675,426 | 6,677,491 | 2,066 |
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