ENST00000421138.6 RECQL

Information
Transcript ID
ENST00000421138.6
Genome
hg19
Position
chr12:21,622,736-21,654,485
Strand
-
CDS length
1,950
Amino acid length
650
Gene symbol
RECQL
Gene type
protein-coding
Gene description
RecQ like helicase
Gene Entrez Gene ID
5965
Variants

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Target data :
MGeND data only
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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
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Target data :
MGeND data only
Category :
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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 :
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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
16 21,622,736 21,623,280
15 21,623,903 21,624,032
14 21,624,362 21,624,581
13 21,626,485 21,626,576
12 21,627,775 21,627,913
11 21,628,402 21,628,519
10 21,628,610 21,628,758
9 21,629,845 21,629,926
8 21,630,737 21,630,903
7 21,636,310 21,636,508
6 21,639,413 21,639,519
5 21,643,133 21,643,312
4 21,644,453 21,644,650
3 21,652,489 21,652,549
2 21,654,104 21,654,149
1 21,654,347 21,654,485
CDS
Exon number Type Start Stop
16 CDS 21,623,128 21,623,280
15 CDS 21,623,903 21,624,032
14 CDS 21,624,362 21,624,581
13 CDS 21,626,485 21,626,576
12 CDS 21,627,775 21,627,913
11 CDS 21,628,402 21,628,519
10 CDS 21,628,610 21,628,758
9 CDS 21,629,845 21,629,926
8 CDS 21,630,737 21,630,903
7 CDS 21,636,310 21,636,508
6 CDS 21,639,413 21,639,519
5 CDS 21,643,133 21,643,312
4 CDS 21,644,453 21,644,650
3 CDS 21,652,489 21,652,504
Other genome
Genome Chromosome Start End Links
hg38 chr12 21,469,802 21,501,551 Link
CDS sequence
ATGGCGTCCGTTTCAGCTCTAACTGAGGAACTGGATTCTATAACCAGTGAGCTACATGCAGTAGAAATTCAAATTCAAGAACTTACGGAAAGGCAACAAGAGCTTATTCAGAAAAAAAAAGTCCTGACAAAGAAAATAAAGCAGTGTTTAGAGGATTCTGATGCCGGGGCAAGCAATGAATATGATTCTTCACCTGCCGCTTGGAATAAAGAAGATTTTCCATGGTCTGGTAAAGTTAAAGATATTCTGCAAAATGTCTTTAAACTGGAAAAGTTCAGACCACTTCAGCTTGAAACTATTAACGTAACAATGGCTGGAAAGGAGGTATTTCTTGTTATGCCTACAGGAGGTGGAAAGAGCTTATGTTACCAGTTACCAGCATTATGTTCAGATGGTTTTACACTCGTCATTTGCCCATTGATCTCTCTTATGGAAGACCAATTAATGGTTTTAAAACAATTAGGAATTTCAGCAACCATGTTAAATGCTTCTAGTTCTAAGGAGCATGTTAAATGGGTTCATGCTGAAATGGTAAATAAAAACTCCGAGTTAAAGCTGATTTATGTGACTCCAGAGAAAATTGCAAAAAGCAAAATGTTTATGTCAAGACTAGAGAAAGCCTATGAAGCAAGGAGATTTACTCGAATTGCTGTGGATGAAGTTCACTGCTGTAGTCAGTGGGGACATGATTTCAGACCTGATTATAAGGCACTTGGTATCTTAAAGCGGCAGTTCCCTAACGCATCACTAATTGGGCTGACTGCAACTGCAACAAATCACGTTTTGACGGATGCTCAGAAAATTTTGTGCATTGAAAAGTGTTTTACTTTTACAGCTTCTTTTAATAGGCCAAATCTATATTATGAGGTTCGGCAGAAGCCCTCAAACACTGAAGATTTTATTGAGGATATTGTAAAGCTCATTAATGGGAGATACAAAGGGCAATCAGGAATCATATATTGTTTTTCTCAGAAAGACTCTGAACAAGTTACGGTTAGTTTGCAGAATCTGGGAATTCATGCAGGTGCTTACCATGCCAATTTGGAGCCAGAAGATAAGACCACAGTTCATAGAAAATGGTCAGCCAATGAAATTCAGGTAGTAGTGGCAACTGTTGCATTTGGTATGGGAATTGATAAGCCAGATGTGAGGTTTGTTATCCATCATTCAATGAGTAAATCCATGGAAAATTATTACCAAGAGAGTGGACGTGCAGGTCGAGATGACATGAAAGCAGACTGTATTTTGTACTACGGCTTTGGAGATATATTCAGAATAAGTTCAATGGTGGTGATGGAAAATGTGGGACAGCAGAAGCTTTATGAGATGGTATCATACTGTCAAAACATAAGCAAATGTCGTCGTGTGTTGATGGCTCAACATTTTGATGAAGTATGGAACTCAGAAGCATGTAACAAAATGTGCGATAACTGCTGTAAAGACAGTGCATTTGAAAGAAAGAACATAACAGAGTACTGCAGAGATCTAATCAAGATCCTGAAGCAGGCAGAGGAACTGAATGAAAAACTCACTCCATTGAAACTGATTGATTCTTGGATGGGAAAGGGTGCAGCAAAACTGAGAGTAGCAGGTGTTGTGGCTCCCACACTTCCTCGTGAAGATCTGGAGAAGATTATTGCACACTTTCTAATACAGCAGTATCTTAAAGAAGACTACAGTTTTACAGCTTATGCTACCATTTCGTATTTGAAAATAGGACCTAAAGCTAATCTTCTGAACAATGAGGCACATGCTATTACTATGCAAGTGACAAAGTCCACGCAGAACTCTTTCAGGGCTGAATCGTCTCAAACTTGTCATTCTGAACAAGGTGATAAAAAGATGGAGGAAAAAAATTCAGGCAACTTCCAGAAGAAGGCTGCAAACATGCTTCAGCAATCTGGTTCTAAGAATACAGGAGCTAAGAAAAGAAAAATCGATGATGCCTGA
Amino sequence
MASVSALTEELDSITSELHAVEIQIQELTERQQELIQKKKVLTKKIKQCLEDSDAGASNEYDSSPAAWNKEDFPWSGKVKDILQNVFKLEKFRPLQLETINVTMAGKEVFLVMPTGGGKSLCYQLPALCSDGFTLVICPLISLMEDQLMVLKQLGISATMLNASSSKEHVKWVHAEMVNKNSELKLIYVTPEKIAKSKMFMSRLEKAYEARRFTRIAVDEVHCCSQWGHDFRPDYKALGILKRQFPNASLIGLTATATNHVLTDAQKILCIEKCFTFTASFNRPNLYYEVRQKPSNTEDFIEDIVKLINGRYKGQSGIIYCFSQKDSEQVTVSLQNLGIHAGAYHANLEPEDKTTVHRKWSANEIQVVVATVAFGMGIDKPDVRFVIHHSMSKSMENYYQESGRAGRDDMKADCILYYGFGDIFRISSMVVMENVGQQKLYEMVSYCQNISKCRRVLMAQHFDEVWNSEACNKMCDNCCKDSAFERKNITEYCRDLIKILKQAEELNEKLTPLKLIDSWMGKGAAKLRVAGVVAPTLPREDLEKIIAHFLIQQYLKEDYSFTAYATISYLKIGPKANLLNNEAHAITMQVTKSTQNSFRAESSQTCHSEQGDKKMEEKNSGNFQKKAANMLQQSGSKNTGAKKRKIDDA*