ACSBG2 acyl-CoA synthetase bubblegum family member 2
Information
- Symbol
- ACSBG2
- Type
- protein-coding
- Description
- acyl-CoA synthetase bubblegum family member 2
- Entrez Gene ID
- 81616
- Genome
- hg19
- Position
- chr19:6,135,685-6,193,105
- Genome
- hg38
- Position
- chr19:6,135,674-6,193,094
- MIM
- 614363 OMIM
- HGNC
- HGNC:24174 HGNC
- Ensembl
- ENSG00000130377 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 66 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
82 |
 |
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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| Category | : |
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| 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 | BGR |
| SYNONYM | BRGL |
| SYNONYM | PRTD-NY3 |
| SYNONYM | PRTDNY3 |
| MIM | 614363 OMIM |
| HGNC | HGNC:24174 HGNC |
| Ensembl | ENSG00000130377 Ensembl |
| AllianceGenome | HGNC:24174 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000586696.5 | hg38 | chr19 | 6,135,674 | 6,193,094 | 57,421 |
| ENST00000681525.1 | hg38 | chr19 | 6,135,676 | 6,193,046 | 57,371 |
| ENST00000588304.5 | hg38 | chr19 | 6,135,635 | 6,193,094 | 57,460 |
| ENST00000588485.6 | hg38 | chr19 | 6,135,667 | 6,193,091 | 57,425 |
| ENST00000591403.5 | hg38 | chr19 | 6,135,669 | 6,193,094 | 57,426 |
| ENST00000588304.5 | hg19 | chr19 | 6,135,646 | 6,193,105 | 57,460 |
| ENST00000588485.6 | hg19 | chr19 | 6,135,678 | 6,193,102 | 57,425 |
| ENST00000591403.5 | hg19 | chr19 | 6,135,680 | 6,193,105 | 57,426 |
| ENST00000586696.5 | hg19 | chr19 | 6,135,685 | 6,193,105 | 57,421 |
| ENST00000681525.1 | hg19 | chr19 | 6,135,687 | 6,193,057 | 57,371 |
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