FAM53B family with sequence similarity 53 member B
Information
- Symbol
- FAM53B
- Type
- protein-coding
- Description
- family with sequence similarity 53 member B
- Entrez Gene ID
- 9679
- Genome
- hg19
- Position
- chr10:126,307,861-126,432,947
- Genome
- hg38
- Position
- chr10:124,619,292-124,744,378
- MIM
- 617289 OMIM
- HGNC
- HGNC:28968 HGNC
- Ensembl
- ENSG00000189319 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
48 |
 |
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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| 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 | KIAA0140 |
| SYNONYM | bA12J10.2 |
| SYNONYM | smp |
| MIM | 617289 OMIM |
| HGNC | HGNC:28968 HGNC |
| Ensembl | ENSG00000189319 Ensembl |
| AllianceGenome | HGNC:28968 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000392754.7 | hg38 | chr10 | 124,621,671 | 124,742,970 | 121,300 |
| ENST00000280780.6 | hg38 | chr10 | 124,667,190 | 124,744,269 | 77,080 |
| ENST00000337318.8 | hg38 | chr10 | 124,619,292 | 124,744,378 | 125,087 |
| ENST00000337318.8 | hg19 | chr10 | 126,307,861 | 126,432,947 | 125,087 |
| ENST00000392754.7 | hg19 | chr10 | 126,310,240 | 126,431,539 | 121,300 |
| ENST00000280780.6 | hg19 | chr10 | 126,355,759 | 126,432,838 | 77,080 |
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