CUZD1 CUB and zona pellucida like domains 1
Information
- Symbol
- CUZD1
- Type
- protein-coding
- Description
- CUB and zona pellucida like domains 1
- Entrez Gene ID
- 50624
- Genome
- hg19
- Position
- chr10:124,591,674-124,605,373
- Genome
- hg38
- Position
- chr10:122,832,158-122,845,857
- MIM
- 616644 OMIM
- HGNC
- HGNC:17937 HGNC
- Ensembl
- ENSG00000138161 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 48 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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60 |
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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 |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ERG-1 |
| SYNONYM | ERG1 |
| SYNONYM | ITMAP1 |
| SYNONYM | UO-44 |
| MIM | 616644 OMIM |
| HGNC | HGNC:17937 HGNC |
| Ensembl | ENSG00000138161 Ensembl |
| AllianceGenome | HGNC:17937 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000392790.6 | hg38 | chr10 | 122,832,158 | 122,845,857 | 13,700 |
| ENST00000392790.6 | hg19 | chr10 | 124,591,674 | 124,605,373 | 13,700 |
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