ENST00000247815.9 HELB
Information
- Transcript ID
- ENST00000247815.9
- Genome
- hg19
- Position
- chr12:66,696,273-66,731,979
- Strand
- +
- CDS length
- 3,264
- Amino acid length
- 1,088
- Gene symbol
- HELB
- Gene type
- protein-coding
- Gene description
- DNA helicase B
- Gene Entrez Gene ID
- 92797
Variants
Display target variant
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 | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 1 | 66,696,273 | 66,696,570 |
| 2 | 66,698,511 | 66,698,930 |
| 3 | 66,700,125 | 66,700,294 |
| 4 | 66,703,486 | 66,704,388 |
| 5 | 66,707,766 | 66,707,943 |
| 6 | 66,709,022 | 66,709,163 |
| 7 | 66,712,418 | 66,712,572 |
| 8 | 66,715,728 | 66,715,809 |
| 9 | 66,716,504 | 66,716,563 |
| 10 | 66,717,763 | 66,717,991 |
| 11 | 66,718,763 | 66,718,906 |
| 12 | 66,724,934 | 66,725,425 |
| 13 | 66,731,781 | 66,731,979 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 66,696,384 | 66,696,570 |
| 2 | CDS | 66,698,511 | 66,698,930 |
| 3 | CDS | 66,700,125 | 66,700,294 |
| 4 | CDS | 66,703,486 | 66,704,388 |
| 5 | CDS | 66,707,766 | 66,707,943 |
| 6 | CDS | 66,709,022 | 66,709,163 |
| 7 | CDS | 66,712,418 | 66,712,572 |
| 8 | CDS | 66,715,728 | 66,715,809 |
| 9 | CDS | 66,716,504 | 66,716,563 |
| 10 | CDS | 66,717,763 | 66,717,991 |
| 11 | CDS | 66,718,763 | 66,718,906 |
| 12 | CDS | 66,724,934 | 66,725,425 |
| 13 | CDS | 66,731,781 | 66,731,882 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr12 | 66,302,493 | 66,338,199 | Link |
CDS sequence
ATGGCCAGGTCGAGTCCGTACCTGCGCCAACTTCAGGGACCTCTGCTCCCACCCAGGGATCTGGTGGAGGAGGACGACGACTACCTAAACGACGACGTGGAGGAGGATGAAGAGTCCGTGTTCATCGACGCCGAGGAGCTCTGCAGTGGGGGCGTAAAGGCTGGCAGCCTCCCCGGGTGCCTCCGCGTTTCTATTTGTGATGAAAACACACAAGAGACATGTAAAGTGTTTGGACGTTTTCCGATAACAGGTGCTTGGTGGAGAGTGAAGGTACAAGTAAAGCCTGTGGTGGGATCAAGGAGCTATCAATATCAAGTTCAAGGATTTCCGTCTTACTTTTTGCAGTCTGATATGTCACCACCAAATCAAAAACATATCTGTGCTCTCTTTCTTAAAGAGTGTGAGGTCTCCAGTGATGATGTTAATAAATTTTTAACATGGGTAAAGGAGGTATCAAACTACAAAAACCTAAACTTTGAAAATCTTAGGGAAACACTAAGAACTTTCCACAAGGAAACTGGAAGGAAAGATCAAAAGCAGCCTACACAGAATGGTCAGGAAGAGTTGTTCCTAGACAATGAGATGAGTCTTCCTCTGGAAAACACAATTCCATTTAGAAATGTAATGACAGCTTTGCAGTTTCCGAAGATAATGGAATTCCTTCCAGTTCTTCTGCCTCGACACTTTAAATGGATCATAGGGTCAGGTTCTAAAGAGATGTTGAAAGAGATAGAAGAGATTTTAGGTACACATCCGTGGAAACTTGGATTTAGTAAAATAACCTACAGAGAGTGGAAACTCCTGCGATGTGAGGCAAGTTGGATAGCATTTTGTCAGTGTGAGTCTCTTCTCCAGCTGATGACTGATTTGGAGAAGAATGCATTAATAATGTATTCCAGACTGAAGCAGATATGTAGAGAAGATGGGCACACATATGTTGAAGTGAATGACTTAACTTTGACATTGTCAAATCATATGTCATTTCATGCTGCTTCAGAGTCTCTGAAGTTTTTGAAGGATATTGGTGTGGTGACATATGAGAAGTCCTGTGTCTTCCCTTATGACCTTTACCATGCTGAAAGAGCCATCGCCTTTTCAATTTGTGACCTGATGAAGAAACCTCCTTGGCATTTATGTGTCGATGTCGAAAAGGTGCTTGCCTCTATTCACACCACAAAACCTGAGAATTCAAGCGATGATGCATTGAATGAGAGCAAACCTGATGAAGTAAGATTAGAAAATCCTGTGGATGTTGTGGACACACAGGACAATGGTGACCATATTTGGACTAATGGTGAAAATGAAATTAATGCAGAAATAAGTGAAGTTCAGCTGGATCAGGATCAGGTTGAAGTTCCACTGGATCGGGATCAGGTGGCTGCTTTGGAAATGATTTGCTCCAATCCTGTGACAGTCATAAGTGGGAAAGGTGGATGTGGGAAGACCACAATCGTTAGCCGTCTTTTTAAGCATATAGAGCAGTTGGAAGAAAGAGAAGTAAAAAAAGCCTGTGAAGATTTTGAACAAGACCAGAATGCTTCAGAAGAATGGATTACCTTTACTGAGCAAAGTCAACTAGAGGCGGACAAGGCTATAGAAGTTTTGCTCACAGCACCTACAGGGAAAGCAGCTGGCTTACTAAGACAGAAAACTGGTCTTCATGCCTACACACTGTGTCAGGTCAATTATAGCTTCTATTCATGGACTCAAACAATGATGACCACAAACAAACCATGGAAATTTTCTTCGGTTAGAGTTCTGGTTGTGGATGAAGGGAGTTTGGTATCTGTAGGAATCTTCAAATCGGTCTTAAATTTATTGTGTGAGCACTCCAAACTTTCTAAGCTTATTATCCTTGGTGACATTAGACAGTTACCCAGTATTGAACCTGGTAACTTGCTGAAAGATCTTTTTGAGACTCTTAAGTCAAGAAATTGTGCTATTGAGCTAAAGACAAACCATAGAGCAGAATCTCAGCTCATTGTGGACAATGCTACAAGAATCTCAAGACGCCAATTTCCAAAATTTGATGCAGAACTAAATATCTCTGATAATCCAACATTACCCATCTCAATTCAAGATAAGACATTTATTTTTGTCAGGCTCCCAGAAGAGGATGCCAGTTCTCAGTCATCTAAAACTAATCATCACTCTTGTTTATATTCTGCAGTTAAAACTTTACTACAAGAAAATAACTTACAAAATGCAAAAACATCACAATTTATTGCATTTAGAAGGCAAGACTGTGATCTAATTAATGACTGCTGCTGCAAACACTACACAGGCCACCTCACCAAAGACCATCAGAGTAGACTTGTTTTTGGAATTGGTGATAAAATTTGTTGTACCAGGAATGCATACCTCTCAGACTTACTACCTGAAAATATCTCTGGAAGTCAGCAAAATAATGATCTAGATGCCAGTAGTGAAGACTTTTCTGGTACGCTTCCTGATTTTGCTAAAAATAAGCGTGACTTTGAAAGTAACGTTCGACTGTGCAATGGAGAGATATTTTTCATAACAAATGATGTAACTGATGTAACTTTTGGAAAGAGAAGATCTTTGACCATTAATAATATGGCTGGCCTGGAAGTAACTGTGGATTTTAAGAAACTAATGAAATATTGTCGCATAAAACATGCATGGGCAAGAACTATTCACACTTTTCAGGGGTCCGAGGAGCAAACAGTTGTCTATGTGGTGGGGAAGGCGGGCCGCCAGCACTGGCAGCATGTCTACACCGCCGTGACCAGGGGCCGCTGCCGAGTGTATGTGATTGCAGAGGAGTCTCAGCTCCGGAATGCCATTATGAAAAACAGTTTTCCTAGAAAAACTCGTTTGAAACATTTCTTGCAAAGTAAGCTCTCCTCTAGCGGCGCACCTCCAGCAGATTTTCCGTCCCCACGGAAGAGCTCTGGAGACAGTGGAGGACCCAGCACACCGTCAGCATCTCCACTCCCTGTAGTCACAGACCACGCCATGACAAATGATGTCACCTGGAGCGAGGCCTCTTCGCCTGATGAGAGGACACTCACCTTTGCTGAAAGATGGCAATTATCTTCACCTGATGGAGTAGATACAGATGATGATTTACCAAAATCGCGAGCATCCAAAAGAACCTGTGGTGTGAATGATGATGAAAGTCCAAGCAAAATTTTTATGGTGGGAGAATCTCCACAAGTGTCTTCCAGACTTCAGAATTTGAGACTGAATAATTTAATTCCCAGGCAACTTTTCAAGCCCACCGATAATCAAGAAACTTAG
Amino sequence
MARSSPYLRQLQGPLLPPRDLVEEDDDYLNDDVEEDEESVFIDAEELCSGGVKAGSLPGCLRVSICDENTQETCKVFGRFPITGAWWRVKVQVKPVVGSRSYQYQVQGFPSYFLQSDMSPPNQKHICALFLKECEVSSDDVNKFLTWVKEVSNYKNLNFENLRETLRTFHKETGRKDQKQPTQNGQEELFLDNEMSLPLENTIPFRNVMTALQFPKIMEFLPVLLPRHFKWIIGSGSKEMLKEIEEILGTHPWKLGFSKITYREWKLLRCEASWIAFCQCESLLQLMTDLEKNALIMYSRLKQICREDGHTYVEVNDLTLTLSNHMSFHAASESLKFLKDIGVVTYEKSCVFPYDLYHAERAIAFSICDLMKKPPWHLCVDVEKVLASIHTTKPENSSDDALNESKPDEVRLENPVDVVDTQDNGDHIWTNGENEINAEISEVQLDQDQVEVPLDRDQVAALEMICSNPVTVISGKGGCGKTTIVSRLFKHIEQLEEREVKKACEDFEQDQNASEEWITFTEQSQLEADKAIEVLLTAPTGKAAGLLRQKTGLHAYTLCQVNYSFYSWTQTMMTTNKPWKFSSVRVLVVDEGSLVSVGIFKSVLNLLCEHSKLSKLIILGDIRQLPSIEPGNLLKDLFETLKSRNCAIELKTNHRAESQLIVDNATRISRRQFPKFDAELNISDNPTLPISIQDKTFIFVRLPEEDASSQSSKTNHHSCLYSAVKTLLQENNLQNAKTSQFIAFRRQDCDLINDCCCKHYTGHLTKDHQSRLVFGIGDKICCTRNAYLSDLLPENISGSQQNNDLDASSEDFSGTLPDFAKNKRDFESNVRLCNGEIFFITNDVTDVTFGKRRSLTINNMAGLEVTVDFKKLMKYCRIKHAWARTIHTFQGSEEQTVVYVVGKAGRQHWQHVYTAVTRGRCRVYVIAEESQLRNAIMKNSFPRKTRLKHFLQSKLSSSGAPPADFPSPRKSSGDSGGPSTPSASPLPVVTDHAMTNDVTWSEASSPDERTLTFAERWQLSSPDGVDTDDDLPKSRASKRTCGVNDDESPSKIFMVGESPQVSSRLQNLRLNNLIPRQLFKPTDNQET*