HES6 hes family bHLH transcription factor 6
Information
- Symbol
- HES6
- Type
- protein-coding
- Description
- hes family bHLH transcription factor 6
- Entrez Gene ID
- 55502
- Genome
- hg19
- Position
- chr2:239,146,908-239,148,679
- Genome
- hg38
- Position
- chr2:238,238,267-238,240,038
- MIM
- 610331 OMIM
- HGNC
- HGNC:18254 HGNC
- Ensembl
- ENSG00000144485 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 32 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
32 |
 |
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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| 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 | C-HAIRY1 |
| SYNONYM | HES-6 |
| SYNONYM | bHLHb41 |
| SYNONYM | bHLHc23 |
| MIM | 610331 OMIM |
| HGNC | HGNC:18254 HGNC |
| Ensembl | ENSG00000144485 Ensembl |
| AllianceGenome | HGNC:18254 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000409002.7 | hg38 | chr2 | 238,238,276 | 238,239,971 | 1,696 |
| ENST00000409356.1 | hg38 | chr2 | 238,239,170 | 238,240,024 | 855 |
| ENST00000409160.7 | hg38 | chr2 | 238,238,270 | 238,240,038 | 1,769 |
| ENST00000272937.10 | hg38 | chr2 | 238,238,267 | 238,240,038 | 1,772 |
| ENST00000409574.1 | hg38 | chr2 | 238,238,860 | 238,240,041 | 1,182 |
| ENST00000409182.1 | hg38 | chr2 | 238,238,605 | 238,239,958 | 1,354 |
| ENST00000272937.10 | hg19 | chr2 | 239,146,908 | 239,148,679 | 1,772 |
| ENST00000409160.7 | hg19 | chr2 | 239,146,911 | 239,148,679 | 1,769 |
| ENST00000409002.7 | hg19 | chr2 | 239,146,917 | 239,148,612 | 1,696 |
| ENST00000409182.1 | hg19 | chr2 | 239,147,246 | 239,148,599 | 1,354 |
| ENST00000409574.1 | hg19 | chr2 | 239,147,501 | 239,148,682 | 1,182 |
| ENST00000409356.1 | hg19 | chr2 | 239,147,811 | 239,148,665 | 855 |
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