SCUBE3 signal peptide, CUB domain and EGF like domain containing 3
Information
- Symbol
- SCUBE3
- Type
- protein-coding
- Description
- signal peptide, CUB domain and EGF like domain containing 3
- Entrez Gene ID
- 222663
- Genome
- hg19
- Position
- chr6:35,181,733-35,220,856
- Genome
- hg38
- Position
- chr6:35,213,956-35,253,079
- MIM
- 614708 OMIM
- HGNC
- HGNC:13655 HGNC
- Ensembl
- ENSG00000146197 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 16 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 8 |
| Likely benign | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 120 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
2 |
![]() |
142 |
![]() |
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
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| 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 | : |
|
| 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 | CEGF3 |
| SYNONYM | SSFSC2 |
| MIM | 614708 OMIM |
| HGNC | HGNC:13655 HGNC |
| Ensembl | ENSG00000146197 Ensembl |
| AllianceGenome | HGNC:13655 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000274938.8 | hg38 | chr6 | 35,213,956 | 35,253,079 | 39,124 |
| ENST00000274938.8 | hg19 | chr6 | 35,181,733 | 35,220,856 | 39,124 |
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