BRI3BP BRI3 binding protein
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
34 |
 |
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 | BNAS1 |
| SYNONYM | HCCR-1 |
| SYNONYM | HCCR-2 |
| SYNONYM | HCCRBP-1 |
| SYNONYM | HCCRBP-3 |
| SYNONYM | KG19 |
| MIM | 615627 OMIM |
| HGNC | HGNC:14251 HGNC |
| Ensembl | ENSG00000184992 Ensembl |
| AllianceGenome | HGNC:14251 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000671775.2 | hg38 | chr12 | 124,993,645 | 125,031,231 | 37,587 |
| ENST00000672415.1 | hg38 | chr12 | 124,993,705 | 125,026,499 | 32,795 |
| ENST00000341446.9 | hg38 | chr12 | 124,993,645 | 125,031,231 | 37,587 |
| ENST00000341446.9 | hg19 | chr12 | 125,478,191 | 125,515,777 | 37,587 |
| ENST00000671775.2 | hg19 | chr12 | 125,478,191 | 125,515,777 | 37,587 |
| ENST00000672415.1 | hg19 | chr12 | 125,478,251 | 125,511,045 | 32,795 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | OG |
| start | 125,478,193 |
| Gene Symbol | BRI3BP |
| Entrez GeneId | 140,707 |
| Chr Band | 12q24.31 |
| end | 125,510,348 |
| chr | chr12 |
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