ENST00000262519.14 SETD1A
Information
- Transcript ID
- ENST00000262519.14
- Genome
- hg19
- Position
- chr16:30,969,075-30,995,985
- Strand
- +
- CDS length
- 5,124
- Amino acid length
- 1,708
- Gene symbol
- SETD1A
- Gene type
- protein-coding
- Gene description
- SET domain containing 1A, histone lysine methyltransferase
- Gene Entrez Gene ID
- 9739
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 | 30,969,075 | 30,969,285 |
2 | 30,970,038 | 30,970,202 |
3 | 30,970,412 | 30,970,507 |
4 | 30,972,588 | 30,972,858 |
5 | 30,974,754 | 30,974,875 |
6 | 30,975,415 | 30,975,644 |
7 | 30,975,933 | 30,976,782 |
8 | 30,976,922 | 30,977,707 |
9 | 30,978,205 | 30,978,381 |
10 | 30,978,822 | 30,978,909 |
11 | 30,980,626 | 30,980,783 |
12 | 30,980,923 | 30,981,010 |
13 | 30,982,699 | 30,983,040 |
14 | 30,990,466 | 30,991,515 |
15 | 30,991,806 | 30,991,978 |
16 | 30,992,060 | 30,992,170 |
17 | 30,992,382 | 30,992,501 |
18 | 30,994,956 | 30,995,093 |
19 | 30,995,171 | 30,995,985 |
CDS
Exon number | Type | Start | Stop |
---|---|---|---|
2 | CDS | 30,970,053 | 30,970,202 |
3 | CDS | 30,970,412 | 30,970,507 |
4 | CDS | 30,972,588 | 30,972,858 |
5 | CDS | 30,974,754 | 30,974,875 |
6 | CDS | 30,975,415 | 30,975,644 |
7 | CDS | 30,975,933 | 30,976,782 |
8 | CDS | 30,976,922 | 30,977,707 |
9 | CDS | 30,978,205 | 30,978,381 |
10 | CDS | 30,978,822 | 30,978,909 |
11 | CDS | 30,980,626 | 30,980,783 |
12 | CDS | 30,980,923 | 30,981,010 |
13 | CDS | 30,982,699 | 30,983,040 |
14 | CDS | 30,990,466 | 30,991,515 |
15 | CDS | 30,991,806 | 30,991,978 |
16 | CDS | 30,992,060 | 30,992,170 |
17 | CDS | 30,992,382 | 30,992,501 |
18 | CDS | 30,994,956 | 30,995,093 |
19 | CDS | 30,995,171 | 30,995,344 |
Other genome
Genome | Chromosome | Start | End | Links |
---|---|---|---|---|
hg38 | chr16 | 30,957,754 | 30,984,664 | Link |
CDS sequence
ATGGATCAGGAAGGTGGGGGAGATGGGCAGAAGGCCCCGAGCTTCCAGTGGCGGAACTACAAGCTCATCGTGGATCCTGCCTTGGACCCTGCCCTGCGCAGGCCTTCTCAGAAGGTGTACCGCTATGATGGAGTCCACTTCAGTGTCAACGACTCAAAGTATATACCAGTCGAAGACCTCCAAGACCCCCGTTGCCATGTCAGGTCCAAAAACAGAGACTTTTCCCTCCCAGTCCCTAAGTTTAAGCTGGACGAGTTCTATATTGGACAGATTCCACTGAAGGAAGTGACTTTTGCAAGGCTGAATGACAACGTGCGGGAGACCTTCCTGAAGGATATGTGCCGTAAGTACGGTGAGGTGGAAGAGGTAGAGATCCTCCTTCACCCCCGTACGCGCAAGCACCTGGGCCTGGCCCGTGTGCTCTTCACCAGCACTCGGGGCGCCAAGGAAACGGTCAAAAACCTCCACCTTACCTCCGTCATGGGCAACATCATCCATGCCCAGCTTGACATCAAAGGACAACAACGAATGAAATACTATGAACTAATTGTCAATGGCTCCTACACCCCTCAGACTGTGCCCACTGGGGGCAAGGCCCTGAGTGAGAAGTTCCAAGGCTCGGGTGCAGCCACTGAGACGGCCGAATCCCGCCGCCGCTCTTCCTCTGACACAGCTGCCTACCCAGCAGGCACCACTGCGGTGGGCACTCCTGGCAACGGCACCCCCTGCTCCCAGGACACAAGCTTCTCCAGCAGCCGACAAGATACCCCATCTTCCTTTGGCCAGTTCACACCTCAGTCCTCCCAAGGAACCCCCTACACGTCTCGGGGCAGCACCCCCTACTCTCAGGACTCTGCCTACTCCAGCAGCACCACTTCAACCTCCTTCAAGCCCCGGCGGTCAGAGAACAGCTACCAAGATGCCTTTTCCCGCCGCCACTTCTCTGCATCTTCAGCCTCCACAACCGCCTCCACGGCCATCGCCGCCACCACTGCAGCCACTGCCTCATCCTCCGCCTCTTCCTCCTCATTGTCCTCGTCCTCCTCGTCATCCTCTTCCTCCTCGTCCTCTCAGTTTCGTAGTTCTGATGCAAACTACCCAGCGTATTATGAAAGCTGGAATCGCTACCAGCGCCATACTTCCTACCCACCACGCCGGGCCACACGGGAGGAACCCCCTGGAGCCCCTTTTGCTGAAAATACAGCTGAGCGCTTCCCACCTTCTTACACCTCCTACCTGCCCCCCGAGCCCAGCCGGCCCACCGACCAGGACTACCGGCCTCCTGCCTCAGAGGCTCCACCCCCGGAGCCTCCAGAACCTGGTGGAGGCGGGGGTGGAGGAGGGCCCAGCCCTGAGAGAGAAGAAGTTCGGACTTCCCCCCGCCCAGCCTCCCCTGCCCGCTCTGGCTCCCCAGCCCCGGAGACCACCAATGAGAGTGTGCCCTTCGCCCAGCACAGCAGCCTGGATTCCCGCATCGAGATGCTGCTGAAGGAGCAGCGCTCCAAGTTTTCCTTCTTGGCCTCTGACACAGAGGAGGAGGAAGAGAACAGCAGCATGGTCCTTGGGGCCAGAGATACAGGGAGTGAGGTGCCTTCTGGGTCAGGGCATGGGCCCTGCACACCCCCTCCGGCCCCAGCTAATTTTGAGGATGTGGCACCTACAGGGAGCGGGGAGCCAGGGGCTACCCGGGAGTCTCCCAAGGCAAATGGACAGAACCAGGCTTCTCCATGCTCTTCTGGAGACGACATGGAGATCTCCGACGACGACCGGGGTGGCTCACCCCCTCCGGCCCCGACGCCCCCTCAGCAGCCTCCGCCACCTCCCCCTCCCCCGCCGCCTCCTCCTCCCTACCTGGCGTCCCTTCCTCTTGGTTATCCTCCCCACCAACCTGCCTACCTCCTCCCACCCAGACCTGATGGGCCGCCGCCCCCTGAGTACCCCCCACCTCCTCCACCACCCCCGCACATCTATGACTTTGTGAACTCCTTGGAGCTCATGGACCGACTTGGGGCTCAGTGGGGAGGGATGCCCATGTCCTTCCAGATGCAGACCCAGATGTTAACTCGGCTCCATCAGCTGCGGCAGGGCAAGGGATTGATTGCCGCCTCAGCTGGCCCCCCCGGTGGGGCCTTTGGGGAGGCCTTCCTCCCGTTTCCACCCCCGCAGGAGGCAGCCTACGGCTTGCCGTATGCTCTATATGCACAGGGGCAGGAGGGCAGAGGGGCATACTCACGGGAGGCCTACCACCTGCCCATGCCAATGGCAGCCGAGCCCCTGCCCTCCTCCTCAGTCTCGGGAGAGGAGGCCCGGCTGCCACCCAGGGAAGAAGCAGAGCTGGCAGAGGGCAAGACCCTCCCGACAGCAGGCACCGTGGGCCGTGTGCTCGCCATGCTGGTCCAGGAGATGAAGAGCATCATGCAGCGAGACCTCAACCGCAAGATGGTGGAGAACGTGGCCTTCGGAGCCTTTGACCAGTGGTGGGAGAGCAAGGAGGAGAAGGCCAAGCCATTCCAGAACGCGGCCAAGCAGCAAGCCAAGGAGGAGGATAAAGAGAAGACGAAGCTGAAGGAGCCTGGCCTGCTGTCCCTCGTGGACTGGGCCAAGAGCGGGGGCACTACGGGCATCGAGGCTTTCGCCTTTGGGTCAGGGCTGAGAGGGGCCCTGCGGCTGCCTTCATTCAAGGTAAAGCGGAAAGAGCCATCGGAAATTTCCGAGGCCAGTGAGGAAAAGAGGCCTCGTCCCTCCACTCCTGCTGAGGAAGATGAAGACGACCCTGAACAAGAGAAGGAGGCTGGAGAGCCAGGACGTCCGGGGACCAAGCCCCCGAAGCGGGACGAAGAGCGAGGCAAGACCCAGGGCAAGCACCGCAAGTCCTTTGCTCTGGACAGCGAAGGGGAGGAGGCATCCCAGGAGTCCTCCTCGGAGAAGGATGAGGAGGATGACGAGGAAGATGAGGAAGATGAAGATCGAGAGGAAGCTGTGGATACCACAAAGAAGGAGACAGAGGTGTCGGATGGCGAGGACGAGGAAAGCGATTCGTCTTCCAAATGTTCTCTGTATGCTGACTCAGATGGCGAAAATGACAGCACATCAGACTCCGAGAGCAGCAGCTCTTCCAGCTCCTCATCCTCCTCCTCCTCCTCGTCCTCATCCTCCTCGTCCTCTTCATCCTCTGAGTCCTCCTCTGAAGATGAAGAGGAAGAGGAGCGGCCAGCAGCCCTTCCCTCAGCCTCCCCGCCCCCCAGAGAAGTCCCAGTGCCCACGCCAGCACCTGTGGAGGTGCCAGTGCCGGAAAGGGTTGCAGGCTCCCCAGTCACACCCCTGCCCGAACAGGAGGCGTCTCCAGCAAGGCCTGCAGGCCCCACGGAGGAGTCACCCCCCAGTGCGCCTCTGCGTCCCCCAGAACCACCTGCTGGGCCCCCGGCCCCTGCCCCACGCCCCGATGAGCGTCCCTCTTCTCCCATCCCCCTCCTGCCCCCACCCAAGAAACGCCGGAAAACTGTCTCCTTCTCTGCCATCGAGGTGGTGCCAGCCCCGGAGCCCCCTCCAGCCACACCGCCGCAGGCCAAGTTTCCCGGCCCAGCCTCCCGCAAGGCTCCCCGGGGCGTGGAGCGGACCATCCGCAACCTGCCCCTGGACCACGCATCTCTGGTCAAGAGTTGGCCCGAGGAGGTGTCCCGAGGAGGCCGGAGCCGGGCTGGAGGCCGAGGCCGCCTCACCGAGGAAGAGGAGGCTGAGCCAGGGACAGAGGTGGACCTGGCGGTCCTGGCCGACCTGGCCCTGACCCCTGCCCGGCGCGGGCTGCCTGCCCTGCCTGCTGTTGAAGACTCAGAGGCCACAGAGACATCGGACGAGGCCGAGCGCCCTAGGCCCCTGCTCAGCCACATCCTCCTGGAGCACAACTATGCCCTGGCCGTCAAGCCCACGCCCCCTGCGCCAGCCCTGCGGCCCCCGGAGCCAGTGCCCGCACCCGCCGCCCTCTTCAGTTCCCCAGCTGATGAGGTCCTGGAGGCCCCCGAGGTGGTGGTGGCTGAGGCGGAGGAGCCCAAGCCGCAGCAACTGCAGCAGCAGCGGGAGGAGGGCGAAGAGGAGGGGGAGGAAGAGGGGGAGGAAGAGGAGGAGGAGTCCTCTGACAGCAGCAGCAGCAGCGATGGGGAGGGCGCCCTCCGGAGGCGCAGCCTCCGCTCCCACGCCCGGCGCCGCCGCCCTCCGCCCCCACCCCCGCCGCCACCGCCCCGCGCCTACGAGCCACGCAGTGAGTTTGAACAGATGACCATCCTGTATGACATTTGGAACTCGGGCCTGGACTCAGAGGACATGAGTTACCTGCGGCTTACGTACGAGCGGCTGCTGCAGCAGACAAGCGGGGCTGACTGGCTCAACGACACTCACTGGGTCCATCACACAATCACCAACCTGACCACCCCAAAACGCAAGCGGCGGCCCCAGGATGGGCCCCGGGAGCACCAGACAGGCTCAGCCCGCAGCGAAGGCTACTACCCCATCAGCAAGAAGGAGAAGGACAAGTACCTGGACGTGTGCCCAGTCTCGGCCCGGCAGCTGGAGGGCGTGGACACTCAGGGGACGAACCGCGTGCTGTCCGAGCGCCGGTCCGAGCAGCGGCGGCTGCTGAGCGCCATCGGTACCTCCGCCATCATGGACAGTGACCTGCTGAAACTCAACCAGCTCAAGTTCCGGAAGAAGAAGCTCCGATTTGGCCGGAGCCGGATCCACGAGTGGGGTCTGTTTGCCATGGAACCCATTGCTGCTGACGAGATGGTCATCGAATACGTGGGTCAGAACATCCGTCAGATGGTGGCCGACATGCGGGAGAAGCGCTACGTGCAGGAGGGCATTGGCAGCAGCTACCTGTTCCGGGTGGACCACGACACCATCATCGATGCCACCAAGTGTGGCAACCTGGCCAGATTCATCAACCACTGCTGCACGCCTAACTGCTACGCCAAGGTCATCACCATCGAGTCCCAGAAGAAGATCGTGATCTACTCCAAGCAGCCCATTGGCGTGGACGAGGAGATCACCTACGACTACAAGTTCCCACTGGAAGACAACAAGATCCCGTGTCTGTGTGGCACAGAGAGCTGCCGGGGCTCCCTAAACTGA
Amino sequence
MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSKNRDFSLPVPKFKLDEFYIGQIPLKEVTFARLNDNVRETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKALSEKFQGSGAATETAESRRRSSSDTAAYPAGTTAVGTPGNGTPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRRSENSYQDAFSRRHFSASSASTTASTAIAATTAATASSSASSSSLSSSSSSSSSSSSSQFRSSDANYPAYYESWNRYQRHTSYPPRRATREEPPGAPFAENTAERFPPSYTSYLPPEPSRPTDQDYRPPASEAPPPEPPEPGGGGGGGGPSPEREEVRTSPRPASPARSGSPAPETTNESVPFAQHSSLDSRIEMLLKEQRSKFSFLASDTEEEEENSSMVLGARDTGSEVPSGSGHGPCTPPPAPANFEDVAPTGSGEPGATRESPKANGQNQASPCSSGDDMEISDDDRGGSPPPAPTPPQQPPPPPPPPPPPPPYLASLPLGYPPHQPAYLLPPRPDGPPPPEYPPPPPPPPHIYDFVNSLELMDRLGAQWGGMPMSFQMQTQMLTRLHQLRQGKGLIAASAGPPGGAFGEAFLPFPPPQEAAYGLPYALYAQGQEGRGAYSREAYHLPMPMAAEPLPSSSVSGEEARLPPREEAELAEGKTLPTAGTVGRVLAMLVQEMKSIMQRDLNRKMVENVAFGAFDQWWESKEEKAKPFQNAAKQQAKEEDKEKTKLKEPGLLSLVDWAKSGGTTGIEAFAFGSGLRGALRLPSFKVKRKEPSEISEASEEKRPRPSTPAEEDEDDPEQEKEAGEPGRPGTKPPKRDEERGKTQGKHRKSFALDSEGEEASQESSSEKDEEDDEEDEEDEDREEAVDTTKKETEVSDGEDEESDSSSKCSLYADSDGENDSTSDSESSSSSSSSSSSSSSSSSSSSSSSSESSSEDEEEEERPAALPSASPPPREVPVPTPAPVEVPVPERVAGSPVTPLPEQEASPARPAGPTEESPPSAPLRPPEPPAGPPAPAPRPDERPSSPIPLLPPPKKRRKTVSFSAIEVVPAPEPPPATPPQAKFPGPASRKAPRGVERTIRNLPLDHASLVKSWPEEVSRGGRSRAGGRGRLTEEEEAEPGTEVDLAVLADLALTPARRGLPALPAVEDSEATETSDEAERPRPLLSHILLEHNYALAVKPTPPAPALRPPEPVPAPAALFSSPADEVLEAPEVVVAEAEEPKPQQLQQQREEGEEEGEEEGEEEEEESSDSSSSSDGEGALRRRSLRSHARRRRPPPPPPPPPPRAYEPRSEFEQMTILYDIWNSGLDSEDMSYLRLTYERLLQQTSGADWLNDTHWVHHTITNLTTPKRKRRPQDGPREHQTGSARSEGYYPISKKEKDKYLDVCPVSARQLEGVDTQGTNRVLSERRSEQRRLLSAIGTSAIMDSDLLKLNQLKFRKKKLRFGRSRIHEWGLFAMEPIAADEMVIEYVGQNIRQMVADMREKRYVQEGIGSSYLFRVDHDTIIDATKCGNLARFINHCCTPNCYAKVITIESQKKIVIYSKQPIGVDEEITYDYKFPLEDNKIPCLCGTESCRGSLN*