SUZ12 SUZ12 polycomb repressive complex 2 subunit
Information
- Symbol
- SUZ12
- Type
- protein-coding
- Description
- SUZ12 polycomb repressive complex 2 subunit
- Entrez Gene ID
- 23512
- Genome
- hg19
- Position
- chr17:30,264,026-30,328,057
- Genome
- hg38
- Position
- chr17:31,937,007-32,001,038
- MIM
- 606245 OMIM
- HGNC
- HGNC:17101 HGNC
- Ensembl
- ENSG00000178691 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 26 |
| Likely pathogenic | 0 | 16 |
| Benign | 0 | 12 |
| Likely benign | 0 | 54 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 19 | 0 |
| Uncertain significance | 0 | 100 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
12 |
 |
182 |
 |
10 |
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
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| Category | : |
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| 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 | CHET9 |
| SYNONYM | IMMAS |
| SYNONYM | JJAZ1 |
| MIM | 606245 OMIM |
| HGNC | HGNC:17101 HGNC |
| Ensembl | ENSG00000178691 Ensembl |
| AllianceGenome | HGNC:17101 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000580398.1 | hg38 | chr17 | 31,937,067 | 32,000,649 | 63,583 |
| ENST00000322652.10 | hg38 | chr17 | 31,937,007 | 32,001,038 | 64,032 |
| ENST00000322652.10 | hg19 | chr17 | 30,264,026 | 30,328,057 | 64,032 |
| ENST00000580398.1 | hg19 | chr17 | 30,264,086 | 30,327,668 | 63,583 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | OG |
| start | 30,264,028 |
| Gene Symbol | SUZ12 |
| Entrez GeneId | 23,512 |
| Chr Band | 17q11.2 |
| end | 30,328,063 |
| chr | chr17 |
| Name | suppressor of zeste 12 homolog (Drosophila) |
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