BHLHE23 basic helix-loop-helix family member e23
Information
- Symbol
- BHLHE23
- Type
- protein-coding
- Description
- basic helix-loop-helix family member e23
- Entrez Gene ID
- 128408
- Genome
- hg19
- Position
- chr20:61,637,279-61,638,316
- Genome
- hg38
- Position
- chr20:63,005,927-63,006,964
- MIM
- 609331 OMIM
- HGNC
- HGNC:16093 HGNC
- Ensembl
- ENSG00000125533 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
12 |
 |
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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| 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 | BETA4 |
| SYNONYM | BHLHB4 |
| SYNONYM | Beta3b |
| SYNONYM | bA305P22.3 |
| MIM | 609331 OMIM |
| HGNC | HGNC:16093 HGNC |
| Ensembl | ENSG00000125533 Ensembl |
| AllianceGenome | HGNC:16093 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000370346.2 | hg38 | chr20 | 63,005,979 | 63,007,035 | 1,057 |
| ENST00000612929.2 | hg38 | chr20 | 63,005,927 | 63,006,964 | 1,038 |
| ENST00000612929.2 | hg19 | chr20 | 61,637,279 | 61,638,316 | 1,038 |
| ENST00000370346.2 | hg19 | chr20 | 61,637,331 | 61,638,387 | 1,057 |
Genome browser