BHLHE41 basic helix-loop-helix family member e41
Information
- Symbol
- BHLHE41
- Type
- protein-coding
- Description
- basic helix-loop-helix family member e41
- Entrez Gene ID
- 79365
- Genome
- hg19
- Position
- chr12:26,272,963-26,277,970
- Genome
- hg38
- Position
- chr12:26,120,030-26,125,037
- MIM
- 606200 OMIM
- HGNC
- HGNC:16617 HGNC
- Ensembl
- ENSG00000123095 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 14 |
| Affects | 0 | 4 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 62 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
82 |
 |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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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| 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
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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 | BHLHB3 |
| SYNONYM | DEC2 |
| SYNONYM | FNSS1 |
| SYNONYM | SHARP1 |
| SYNONYM | hDEC2 |
| MIM | 606200 OMIM |
| HGNC | HGNC:16617 HGNC |
| Ensembl | ENSG00000123095 Ensembl |
| AllianceGenome | HGNC:16617 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000242728.5 | hg38 | chr12 | 26,120,030 | 26,125,037 | 5,008 |
| ENST00000242728.5 | hg19 | chr12 | 26,272,963 | 26,277,970 | 5,008 |
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