ENST00000256495.4 BHLHE40
Information
- Transcript ID
- ENST00000256495.4
- Genome
- hg38
- Position
- chr3:4,979,437-4,985,323
- Strand
- +
- CDS length
- 1,239
- Amino acid length
- 413
- Gene symbol
- BHLHE40
- Gene type
- protein-coding
- Gene description
- basic helix-loop-helix family member e40
- Gene Entrez Gene ID
- 8553
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| 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 | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 1 | 4,979,437 | 4,979,798 |
| 2 | 4,979,962 | 4,980,031 |
| 3 | 4,980,301 | 4,980,408 |
| 4 | 4,981,392 | 4,981,515 |
| 5 | 4,982,836 | 4,985,323 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 4,979,719 | 4,979,798 |
| 2 | CDS | 4,979,962 | 4,980,031 |
| 3 | CDS | 4,980,301 | 4,980,408 |
| 4 | CDS | 4,981,392 | 4,981,515 |
| 5 | CDS | 4,982,836 | 4,983,692 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr3 | 5,021,122 | 5,027,008 | Link |
CDS sequence
ATGGAGCGGATCCCCAGCGCGCAACCACCCCCCGCCTGCCTGCCCAAAGCACCGGGACTGGAGCACGGAGACCTACCAGGGATGTACCCTGCCCACATGTACCAAGTGTACAAGTCAAGACGGGGAATAAAGCGGAGCGAGGACAGCAAGGAGACCTACAAATTGCCGCACCGGCTCATCGAGAAAAAGAGACGTGACCGGATTAACGAGTGCATCGCCCAGCTGAAGGATCTCCTACCCGAACATCTCAAACTTACAACTTTGGGTCACTTGGAAAAAGCAGTGGTTCTTGAACTTACCTTGAAGCATGTGAAAGCACTAACAAACCTAATTGATCAGCAGCAGCAGAAAATCATTGCCCTGCAGAGTGGTTTACAAGCTGGTGAGCTGTCAGGGAGAAATGTCGAAACAGGTCAAGAGATGTTCTGCTCAGGTTTCCAGACATGTGCCCGGGAGGTGCTTCAGTATCTGGCCAAGCACGAGAACACTCGGGACCTGAAGTCTTCGCAGCTTGTCACCCACCTCCACCGGGTGGTCTCGGAGCTGCTGCAGGGTGGTACCTCCAGGAAGCCATCAGACCCAGCTCCCAAAGTGATGGACTTCAAGGAAAAACCCAGCTCTCCGGCCAAAGGTTCGGAAGGTCCTGGGAAAAACTGCGTGCCAGTCATCCAGCGGACTTTCGCTCACTCGAGTGGGGAGCAGAGCGGCAGCGACACGGACACAGACAGTGGCTATGGAGGAGAATCGGAGAAGGGCGACTTGCGCAGTGAGCAGCCGTGCTTCAAAAGTGACCACGGACGCAGGTTCACGATGGGAGAAAGGATCGGCGCAATTAAGCAAGAGTCCGAAGAACCCCCCACAAAAAAGAACCGGATGCAGCTTTCGGATGATGAAGGCCATTTCACTAGCAGTGACCTGATCAGCTCCCCGTTCCTGGGCCCACACCCACACCAGCCTCCTTTCTGCCTGCCCTTCTACCTGATCCCACCTTCAGCGACTGCCTACCTGCCCATGCTGGAGAAGTGCTGGTATCCCACCTCAGTGCCAGTGCTATACCCAGGCCTCAACGCCTCTGCCGCAGCCCTCTCTAGCTTCATGAACCCAGACAAGATCTCGGCTCCCTTGCTCATGCCCCAGAGACTCCCTTCTCCCTTGCCAGCTCATCCGTCCGTCGACTCTTCTGTCTTGCTCCAAGCTCTGAAGCCAATCCCCCCTTTAAACTTAGAAACCAAAGACTAA
Amino sequence
MERIPSAQPPPACLPKAPGLEHGDLPGMYPAHMYQVYKSRRGIKRSEDSKETYKLPHRLIEKKRRDRINECIAQLKDLLPEHLKLTTLGHLEKAVVLELTLKHVKALTNLIDQQQQKIIALQSGLQAGELSGRNVETGQEMFCSGFQTCAREVLQYLAKHENTRDLKSSQLVTHLHRVVSELLQGGTSRKPSDPAPKVMDFKEKPSSPAKGSEGPGKNCVPVIQRTFAHSSGEQSGSDTDTDSGYGGESEKGDLRSEQPCFKSDHGRRFTMGERIGAIKQESEEPPTKKNRMQLSDDEGHFTSSDLISSPFLGPHPHQPPFCLPFYLIPPSATAYLPMLEKCWYPTSVPVLYPGLNASAAALSSFMNPDKISAPLLMPQRLPSPLPAHPSVDSSVLLQALKPIPPLNLETKD*