ENST00000421138.6 RECQL

Information
Transcript ID
ENST00000421138.6
Genome
hg38
Position
chr12:21,469,802-21,501,551
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

Display target variant


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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 21,469,802 21,470,346
15 21,470,969 21,471,098
14 21,471,428 21,471,647
13 21,473,551 21,473,642
12 21,474,841 21,474,979
11 21,475,468 21,475,585
10 21,475,676 21,475,824
9 21,476,911 21,476,992
8 21,477,803 21,477,969
7 21,483,376 21,483,574
6 21,486,479 21,486,585
5 21,490,199 21,490,378
4 21,491,519 21,491,716
3 21,499,555 21,499,615
2 21,501,170 21,501,215
1 21,501,413 21,501,551
CDS
Exon number Type Start Stop
16 CDS 21,470,194 21,470,346
15 CDS 21,470,969 21,471,098
14 CDS 21,471,428 21,471,647
13 CDS 21,473,551 21,473,642
12 CDS 21,474,841 21,474,979
11 CDS 21,475,468 21,475,585
10 CDS 21,475,676 21,475,824
9 CDS 21,476,911 21,476,992
8 CDS 21,477,803 21,477,969
7 CDS 21,483,376 21,483,574
6 CDS 21,486,479 21,486,585
5 CDS 21,490,199 21,490,378
4 CDS 21,491,519 21,491,716
3 CDS 21,499,555 21,499,570
Other genome
Genome Chromosome Start End Links
hg19 chr12 21,622,736 21,654,485 Link
CDS sequence
ATGGCGTCCGTTTCAGCTCTAACTGAGGAACTGGATTCTATAACCAGTGAGCTACATGCAGTAGAAATTCAAATTCAAGAACTTACGGAAAGGCAACAAGAGCTTATTCAGAAAAAAAAAGTCCTGACAAAGAAAATAAAGCAGTGTTTAGAGGATTCTGATGCCGGGGCAAGCAATGAATATGATTCTTCACCTGCCGCTTGGAATAAAGAAGATTTTCCATGGTCTGGTAAAGTTAAAGATATTCTGCAAAATGTCTTTAAACTGGAAAAGTTCAGACCACTTCAGCTTGAAACTATTAACGTAACAATGGCTGGAAAGGAGGTATTTCTTGTTATGCCTACAGGAGGTGGAAAGAGCTTATGTTACCAGTTACCAGCATTATGTTCAGATGGTTTTACACTCGTCATTTGCCCATTGATCTCTCTTATGGAAGACCAATTAATGGTTTTAAAACAATTAGGAATTTCAGCAACCATGTTAAATGCTTCTAGTTCTAAGGAGCATGTTAAATGGGTTCATGCTGAAATGGTAAATAAAAACTCCGAGTTAAAGCTGATTTATGTGACTCCAGAGAAAATTGCAAAAAGCAAAATGTTTATGTCAAGACTAGAGAAAGCCTATGAAGCAAGGAGATTTACTCGAATTGCTGTGGATGAAGTTCACTGCTGTAGTCAGTGGGGACATGATTTCAGACCTGATTATAAGGCACTTGGTATCTTAAAGCGGCAGTTCCCTAACGCATCACTAATTGGGCTGACTGCAACTGCAACAAATCACGTTTTGACGGATGCTCAGAAAATTTTGTGCATTGAAAAGTGTTTTACTTTTACAGCTTCTTTTAATAGGCCAAATCTATATTATGAGGTTCGGCAGAAGCCCTCAAACACTGAAGATTTTATTGAGGATATTGTAAAGCTCATTAATGGGAGATACAAAGGGCAATCAGGAATCATATATTGTTTTTCTCAGAAAGACTCTGAACAAGTTACGGTTAGTTTGCAGAATCTGGGAATTCATGCAGGTGCTTACCATGCCAATTTGGAGCCAGAAGATAAGACCACAGTTCATAGAAAATGGTCAGCCAATGAAATTCAGGTAGTAGTGGCAACTGTTGCATTTGGTATGGGAATTGATAAGCCAGATGTGAGGTTTGTTATCCATCATTCAATGAGTAAATCCATGGAAAATTATTACCAAGAGAGTGGACGTGCAGGTCGAGATGACATGAAAGCAGACTGTATTTTGTACTACGGCTTTGGAGATATATTCAGAATAAGTTCAATGGTGGTGATGGAAAATGTGGGACAGCAGAAGCTTTATGAGATGGTATCATACTGTCAAAACATAAGCAAATGTCGTCGTGTGTTGATGGCTCAACATTTTGATGAAGTATGGAACTCAGAAGCATGTAACAAAATGTGCGATAACTGCTGTAAAGACAGTGCATTTGAAAGAAAGAACATAACAGAGTACTGCAGAGATCTAATCAAGATCCTGAAGCAGGCAGAGGAACTGAATGAAAAACTCACTCCATTGAAACTGATTGATTCTTGGATGGGAAAGGGTGCAGCAAAACTGAGAGTAGCAGGTGTTGTGGCTCCCACACTTCCTCGTGAAGATCTGGAGAAGATTATTGCACACTTTCTAATACAGCAGTATCTTAAAGAAGACTACAGTTTTACAGCTTATGCTACCATTTCGTATTTGAAAATAGGACCTAAAGCTAATCTTCTGAACAATGAGGCACATGCTATTACTATGCAAGTGACAAAGTCCACGCAGAACTCTTTCAGGGCTGAATCGTCTCAAACTTGTCATTCTGAACAAGGTGATAAAAAGATGGAGGAAAAAAATTCAGGCAACTTCCAGAAGAAGGCTGCAAACATGCTTCAGCAATCTGGTTCTAAGAATACAGGAGCTAAGAAAAGAAAAATCGATGATGCCTGA
Amino sequence
MASVSALTEELDSITSELHAVEIQIQELTERQQELIQKKKVLTKKIKQCLEDSDAGASNEYDSSPAAWNKEDFPWSGKVKDILQNVFKLEKFRPLQLETINVTMAGKEVFLVMPTGGGKSLCYQLPALCSDGFTLVICPLISLMEDQLMVLKQLGISATMLNASSSKEHVKWVHAEMVNKNSELKLIYVTPEKIAKSKMFMSRLEKAYEARRFTRIAVDEVHCCSQWGHDFRPDYKALGILKRQFPNASLIGLTATATNHVLTDAQKILCIEKCFTFTASFNRPNLYYEVRQKPSNTEDFIEDIVKLINGRYKGQSGIIYCFSQKDSEQVTVSLQNLGIHAGAYHANLEPEDKTTVHRKWSANEIQVVVATVAFGMGIDKPDVRFVIHHSMSKSMENYYQESGRAGRDDMKADCILYYGFGDIFRISSMVVMENVGQQKLYEMVSYCQNISKCRRVLMAQHFDEVWNSEACNKMCDNCCKDSAFERKNITEYCRDLIKILKQAEELNEKLTPLKLIDSWMGKGAAKLRVAGVVAPTLPREDLEKIIAHFLIQQYLKEDYSFTAYATISYLKIGPKANLLNNEAHAITMQVTKSTQNSFRAESSQTCHSEQGDKKMEEKNSGNFQKKAANMLQQSGSKNTGAKKRKIDDA*