ENST00000247815.9 HELB
Information
- Transcript ID
- ENST00000247815.9
- Genome
- hg38
- Position
- chr12:66,302,493-66,338,199
- 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 | 66,302,493 | 66,302,790 |
| 2 | 66,304,731 | 66,305,150 |
| 3 | 66,306,345 | 66,306,514 |
| 4 | 66,309,706 | 66,310,608 |
| 5 | 66,313,986 | 66,314,163 |
| 6 | 66,315,242 | 66,315,383 |
| 7 | 66,318,638 | 66,318,792 |
| 8 | 66,321,948 | 66,322,029 |
| 9 | 66,322,724 | 66,322,783 |
| 10 | 66,323,983 | 66,324,211 |
| 11 | 66,324,983 | 66,325,126 |
| 12 | 66,331,154 | 66,331,645 |
| 13 | 66,338,001 | 66,338,199 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 1 | CDS | 66,302,604 | 66,302,790 |
| 2 | CDS | 66,304,731 | 66,305,150 |
| 3 | CDS | 66,306,345 | 66,306,514 |
| 4 | CDS | 66,309,706 | 66,310,608 |
| 5 | CDS | 66,313,986 | 66,314,163 |
| 6 | CDS | 66,315,242 | 66,315,383 |
| 7 | CDS | 66,318,638 | 66,318,792 |
| 8 | CDS | 66,321,948 | 66,322,029 |
| 9 | CDS | 66,322,724 | 66,322,783 |
| 10 | CDS | 66,323,983 | 66,324,211 |
| 11 | CDS | 66,324,983 | 66,325,126 |
| 12 | CDS | 66,331,154 | 66,331,645 |
| 13 | CDS | 66,338,001 | 66,338,102 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr12 | 66,696,273 | 66,731,979 | Link |
CDS sequence
ATGGCCAGGTCGAGTCCGTACCTGCGCCAACTTCAGGGACCTCTGCTCCCACCCAGGGATCTGGTGGAGGAGGACGACGACTACCTAAACGACGACGTGGAGGAGGATGAAGAGTCCGTGTTCATCGACGCCGAGGAGCTCTGCAGTGGGGGCGTAAAGGCTGGCAGCCTCCCCGGGTGCCTCCGCGTTTCTATTTGTGATGAAAACACACAAGAGACATGTAAAGTGTTTGGACGTTTTCCGATAACAGGTGCTTGGTGGAGAGTGAAGGTACAAGTAAAGCCTGTGGTGGGATCAAGGAGCTATCAATATCAAGTTCAAGGATTTCCGTCTTACTTTTTGCAGTCTGATATGTCACCACCAAATCAAAAACATATCTGTGCTCTCTTTCTTAAAGAGTGTGAGGTCTCCAGTGATGATGTTAATAAATTTTTAACATGGGTAAAGGAGGTATCAAACTACAAAAACCTAAACTTTGAAAATCTTAGGGAAACACTAAGAACTTTCCACAAGGAAACTGGAAGGAAAGATCAAAAGCAGCCTACACAGAATGGTCAGGAAGAGTTGTTCCTAGACAATGAGATGAGTCTTCCTCTGGAAAACACAATTCCATTTAGAAATGTAATGACAGCTTTGCAGTTTCCGAAGATAATGGAATTCCTTCCAGTTCTTCTGCCTCGACACTTTAAATGGATCATAGGGTCAGGTTCTAAAGAGATGTTGAAAGAGATAGAAGAGATTTTAGGTACACATCCGTGGAAACTTGGATTTAGTAAAATAACCTACAGAGAGTGGAAACTCCTGCGATGTGAGGCAAGTTGGATAGCATTTTGTCAGTGTGAGTCTCTTCTCCAGCTGATGACTGATTTGGAGAAGAATGCATTAATAATGTATTCCAGACTGAAGCAGATATGTAGAGAAGATGGGCACACATATGTTGAAGTGAATGACTTAACTTTGACATTGTCAAATCATATGTCATTTCATGCTGCTTCAGAGTCTCTGAAGTTTTTGAAGGATATTGGTGTGGTGACATATGAGAAGTCCTGTGTCTTCCCTTATGACCTTTACCATGCTGAAAGAGCCATCGCCTTTTCAATTTGTGACCTGATGAAGAAACCTCCTTGGCATTTATGTGTCGATGTCGAAAAGGTGCTTGCCTCTATTCACACCACAAAACCTGAGAATTCAAGCGATGATGCATTGAATGAGAGCAAACCTGATGAAGTAAGATTAGAAAATCCTGTGGATGTTGTGGACACACAGGACAATGGTGACCATATTTGGACTAATGGTGAAAATGAAATTAATGCAGAAATAAGTGAAGTTCAGCTGGATCAGGATCAGGTTGAAGTTCCACTGGATCGGGATCAGGTGGCTGCTTTGGAAATGATTTGCTCCAATCCTGTGACAGTCATAAGTGGGAAAGGTGGATGTGGGAAGACCACAATCGTTAGCCGTCTTTTTAAGCATATAGAGCAGTTGGAAGAAAGAGAAGTAAAAAAAGCCTGTGAAGATTTTGAACAAGACCAGAATGCTTCAGAAGAATGGATTACCTTTACTGAGCAAAGTCAACTAGAGGCGGACAAGGCTATAGAAGTTTTGCTCACAGCACCTACAGGGAAAGCAGCTGGCTTACTAAGACAGAAAACTGGTCTTCATGCCTACACACTGTGTCAGGTCAATTATAGCTTCTATTCATGGACTCAAACAATGATGACCACAAACAAACCATGGAAATTTTCTTCGGTTAGAGTTCTGGTTGTGGATGAAGGGAGTTTGGTATCTGTAGGAATCTTCAAATCGGTCTTAAATTTATTGTGTGAGCACTCCAAACTTTCTAAGCTTATTATCCTTGGTGACATTAGACAGTTACCCAGTATTGAACCTGGTAACTTGCTGAAAGATCTTTTTGAGACTCTTAAGTCAAGAAATTGTGCTATTGAGCTAAAGACAAACCATAGAGCAGAATCTCAGCTCATTGTGGACAATGCTACAAGAATCTCAAGACGCCAATTTCCAAAATTTGATGCAGAACTAAATATCTCTGATAATCCAACATTACCCATCTCAATTCAAGATAAGACATTTATTTTTGTCAGGCTCCCAGAAGAGGATGCCAGTTCTCAGTCATCTAAAACTAATCATCACTCTTGTTTATATTCTGCAGTTAAAACTTTACTACAAGAAAATAACTTACAAAATGCAAAAACATCACAATTTATTGCATTTAGAAGGCAAGACTGTGATCTAATTAATGACTGCTGCTGCAAACACTACACAGGCCACCTCACCAAAGACCATCAGAGTAGACTTGTTTTTGGAATTGGTGATAAAATTTGTTGTACCAGGAATGCATACCTCTCAGACTTACTACCTGAAAATATCTCTGGAAGTCAGCAAAATAATGATCTAGATGCCAGTAGTGAAGACTTTTCTGGTACGCTTCCTGATTTTGCTAAAAATAAGCGTGACTTTGAAAGTAACGTTCGACTGTGCAATGGAGAGATATTTTTCATAACAAATGATGTAACTGATGTAACTTTTGGAAAGAGAAGATCTTTGACCATTAATAATATGGCTGGCCTGGAAGTAACTGTGGATTTTAAGAAACTAATGAAATATTGTCGCATAAAACATGCATGGGCAAGAACTATTCACACTTTTCAGGGGTCCGAGGAGCAAACAGTTGTCTATGTGGTGGGGAAGGCGGGCCGCCAGCACTGGCAGCATGTCTACACCGCCGTGACCAGGGGCCGCTGCCGAGTGTATGTGATTGCAGAGGAGTCTCAGCTCCGGAATGCCATTATGAAAAACAGTTTTCCTAGAAAAACTCGTTTGAAACATTTCTTGCAAAGTAAGCTCTCCTCTAGCGGCGCACCTCCAGCAGATTTTCCGTCCCCACGGAAGAGCTCTGGAGACAGTGGAGGACCCAGCACACCGTCAGCATCTCCACTCCCTGTAGTCACAGACCACGCCATGACAAATGATGTCACCTGGAGCGAGGCCTCTTCGCCTGATGAGAGGACACTCACCTTTGCTGAAAGATGGCAATTATCTTCACCTGATGGAGTAGATACAGATGATGATTTACCAAAATCGCGAGCATCCAAAAGAACCTGTGGTGTGAATGATGATGAAAGTCCAAGCAAAATTTTTATGGTGGGAGAATCTCCACAAGTGTCTTCCAGACTTCAGAATTTGAGACTGAATAATTTAATTCCCAGGCAACTTTTCAAGCCCACCGATAATCAAGAAACTTAG
Amino sequence
MARSSPYLRQLQGPLLPPRDLVEEDDDYLNDDVEEDEESVFIDAEELCSGGVKAGSLPGCLRVSICDENTQETCKVFGRFPITGAWWRVKVQVKPVVGSRSYQYQVQGFPSYFLQSDMSPPNQKHICALFLKECEVSSDDVNKFLTWVKEVSNYKNLNFENLRETLRTFHKETGRKDQKQPTQNGQEELFLDNEMSLPLENTIPFRNVMTALQFPKIMEFLPVLLPRHFKWIIGSGSKEMLKEIEEILGTHPWKLGFSKITYREWKLLRCEASWIAFCQCESLLQLMTDLEKNALIMYSRLKQICREDGHTYVEVNDLTLTLSNHMSFHAASESLKFLKDIGVVTYEKSCVFPYDLYHAERAIAFSICDLMKKPPWHLCVDVEKVLASIHTTKPENSSDDALNESKPDEVRLENPVDVVDTQDNGDHIWTNGENEINAEISEVQLDQDQVEVPLDRDQVAALEMICSNPVTVISGKGGCGKTTIVSRLFKHIEQLEEREVKKACEDFEQDQNASEEWITFTEQSQLEADKAIEVLLTAPTGKAAGLLRQKTGLHAYTLCQVNYSFYSWTQTMMTTNKPWKFSSVRVLVVDEGSLVSVGIFKSVLNLLCEHSKLSKLIILGDIRQLPSIEPGNLLKDLFETLKSRNCAIELKTNHRAESQLIVDNATRISRRQFPKFDAELNISDNPTLPISIQDKTFIFVRLPEEDASSQSSKTNHHSCLYSAVKTLLQENNLQNAKTSQFIAFRRQDCDLINDCCCKHYTGHLTKDHQSRLVFGIGDKICCTRNAYLSDLLPENISGSQQNNDLDASSEDFSGTLPDFAKNKRDFESNVRLCNGEIFFITNDVTDVTFGKRRSLTINNMAGLEVTVDFKKLMKYCRIKHAWARTIHTFQGSEEQTVVYVVGKAGRQHWQHVYTAVTRGRCRVYVIAEESQLRNAIMKNSFPRKTRLKHFLQSKLSSSGAPPADFPSPRKSSGDSGGPSTPSASPLPVVTDHAMTNDVTWSEASSPDERTLTFAERWQLSSPDGVDTDDDLPKSRASKRTCGVNDDESPSKIFMVGESPQVSSRLQNLRLNNLIPRQLFKPTDNQET*