FAU FAU ubiquitin like and ribosomal protein S30 fusion
Information
- Symbol
- FAU
- Type
- protein-coding
- Description
- FAU ubiquitin like and ribosomal protein S30 fusion
- Entrez Gene ID
- 2197
- Genome
- hg19
- Position
- chr11:64,888,102-64,889,529
- Genome
- hg38
- Position
- chr11:65,120,630-65,122,057
- MIM
- 134690 OMIM
- HGNC
- HGNC:3597 HGNC
- Ensembl
- ENSG00000149806 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 2 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
2 |
 |
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 | FAU1 |
| SYNONYM | Fub1 |
| SYNONYM | Fubi |
| SYNONYM | MNSFbeta |
| SYNONYM | RPS30 |
| SYNONYM | S30 |
| SYNONYM | asr1 |
| SYNONYM | eS30 |
| MIM | 134690 OMIM |
| HGNC | HGNC:3597 HGNC |
| Ensembl | ENSG00000149806 Ensembl |
| AllianceGenome | HGNC:3597 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000279259.7 | hg38 | chr11 | 65,120,638 | 65,122,153 | 1,516 |
| ENST00000529639.6 | hg38 | chr11 | 65,120,630 | 65,122,134 | 1,505 |
| ENST00000434372.2 | hg38 | chr11 | 65,121,283 | 65,122,177 | 895 |
| ENST00000529259.1 | hg38 | chr11 | 65,120,697 | 65,121,915 | 1,219 |
| ENST00000527548.5 | hg38 | chr11 | 65,120,631 | 65,122,113 | 1,483 |
| ENST00000531743.5 | hg38 | chr11 | 65,120,630 | 65,122,057 | 1,428 |
| ENST00000525297.5 | hg38 | chr11 | 65,120,631 | 65,121,821 | 1,191 |
| ENST00000531743.5 | hg19 | chr11 | 64,888,102 | 64,889,529 | 1,428 |
| ENST00000529639.6 | hg19 | chr11 | 64,888,102 | 64,889,606 | 1,505 |
| ENST00000525297.5 | hg19 | chr11 | 64,888,103 | 64,889,293 | 1,191 |
| ENST00000527548.5 | hg19 | chr11 | 64,888,103 | 64,889,585 | 1,483 |
| ENST00000279259.7 | hg19 | chr11 | 64,888,110 | 64,889,625 | 1,516 |
| ENST00000529259.1 | hg19 | chr11 | 64,888,169 | 64,889,387 | 1,219 |
| ENST00000434372.2 | hg19 | chr11 | 64,888,755 | 64,889,649 | 895 |
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