ENST00000380237.5 HBE1
Information
- Transcript ID
- ENST00000380237.5
- Genome
- hg38
- Position
- chr11:5,268,345-5,505,604
- Strand
- -
- CDS length
- 444
- Amino acid length
- 148
- Gene symbol
- HBE1
- Gene type
- protein-coding
- Gene description
- hemoglobin subunit epsilon 1
- Gene Entrez Gene ID
- 3046
Variants
Display target variant
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
|
| Category | : |
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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
|
| 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 | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 5 | 5,268,345 | 5,268,597 |
| 4 | 5,269,454 | 5,269,676 |
| 3 | 5,269,799 | 5,270,156 |
| 2 | 5,281,909 | 5,281,951 |
| 1 | 5,505,569 | 5,505,604 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 5 | CDS | 5,268,469 | 5,268,597 |
| 4 | CDS | 5,269,454 | 5,269,676 |
| 3 | CDS | 5,269,799 | 5,269,890 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr11 | 5,289,575 | 5,526,834 | Link |
CDS sequence
ATGGTGCATTTTACTGCTGAGGAGAAGGCTGCCGTCACTAGCCTGTGGAGCAAGATGAATGTGGAAGAGGCTGGAGGTGAAGCCTTGGGCAGACTCCTCGTTGTTTACCCCTGGACCCAGAGATTTTTTGACAGCTTTGGAAACCTGTCGTCTCCCTCTGCCATCCTGGGCAACCCCAAGGTCAAGGCCCATGGCAAGAAGGTGCTGACTTCCTTTGGAGATGCTATTAAAAACATGGACAACCTCAAGCCCGCCTTTGCTAAGCTGAGTGAGCTGCACTGTGACAAGCTGCATGTGGATCCTGAGAACTTCAAGCTCCTGGGTAACGTGATGGTGATTATTCTGGCTACTCACTTTGGCAAGGAGTTCACCCCTGAAGTGCAGGCTGCCTGGCAGAAGCTGGTGTCTGCTGTCGCCATTGCCCTGGCCCATAAGTACCACTGA
Amino sequence
MVHFTAEEKAAVTSLWSKMNVEEAGGEALGRLLVVYPWTQRFFDSFGNLSSPSAILGNPKVKAHGKKVLTSFGDAIKNMDNLKPAFAKLSELHCDKLHVDPENFKLLGNVMVIILATHFGKEFTPEVQAAWQKLVSAVAIALAHKYH*