ENST00000595090.6 RUVBL2

Information
Transcript ID
ENST00000595090.6
Genome
hg19
Position
chr19:49,497,144-49,519,227
Strand
+
CDS length
1,392
Amino acid length
464
Gene symbol
RUVBL2
Gene type
protein-coding
Gene description
RuvB like AAA ATPase 2
Gene Entrez Gene ID
10856
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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MGeND data only
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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
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Target data :
MGeND data only
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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
1 49,497,144 49,497,180
2 49,502,576 49,502,630
3 49,506,536 49,506,591
4 49,507,534 49,507,675
5 49,510,275 49,510,404
6 49,510,559 49,510,625
7 49,513,033 49,513,139
8 49,513,230 49,513,323
9 49,513,745 49,513,868
10 49,514,256 49,514,350
11 49,514,449 49,514,567
12 49,517,741 49,517,860
13 49,518,278 49,518,407
14 49,518,829 49,518,943
15 49,519,074 49,519,227
CDS
Exon number Type Start Stop
1 CDS 49,497,169 49,497,180
2 CDS 49,502,576 49,502,630
3 CDS 49,506,536 49,506,591
4 CDS 49,507,534 49,507,675
5 CDS 49,510,275 49,510,404
6 CDS 49,510,559 49,510,625
7 CDS 49,513,033 49,513,139
8 CDS 49,513,230 49,513,323
9 CDS 49,513,745 49,513,868
10 CDS 49,514,256 49,514,350
11 CDS 49,514,449 49,514,567
12 CDS 49,517,741 49,517,860
13 CDS 49,518,278 49,518,407
14 CDS 49,518,829 49,518,943
15 CDS 49,519,074 49,519,099
Other genome
Genome Chromosome Start End Links
hg38 chr19 48,993,887 49,015,970 Link
CDS sequence
ATGGCAACCGTTACAGCCACAACCAAAGTCCCGGAGATCCGTGATGTAACAAGGATTGAGCGAATCGGTGCCCACTCCCACATCCGGGGACTGGGGCTGGACGATGCCTTGGAGCCTCGGCAGGCTTCGCAAGGCATGGTGGGTCAGCTGGCGGCACGGCGGGCGGCTGGCGTGGTGCTGGAGATGATCCGGGAAGGGAAGATTGCCGGTCGGGCAGTCCTTATTGCTGGCCAGCCGGGCACGGGGAAGACGGCCATCGCCATGGGCATGGCGCAGGCCCTGGGCCCTGACACGCCATTCACAGCCATCGCCGGCAGTGAAATCTTCTCCCTGGAGATGAGCAAGACCGAGGCGCTGACGCAGGCCTTCCGGCGGTCCATCGGCGTTCGCATCAAGGAGGAGACGGAGATCATCGAAGGGGAGGTGGTGGAGATCCAGATTGATCGACCAGCAACAGGGACGGGCTCCAAGGTGGGCAAACTGACCCTCAAGACCACAGAGATGGAGACCATCTACGACCTGGGCACCAAGATGATTGAGTCCCTGACCAAGGACAAGGTCCAGGCCGGGGACGTGATCACCATCGACAAGGCGACGGGCAAGATCTCCAAGCTGGGCCGCTCCTTCACACGCGCCCGCGACTACGACGCTATGGGCTCCCAGACCAAGTTCGTGCAGTGCCCAGATGGGGAGCTCCAGAAACGCAAGGAGGTGGTGCACACCGTGTCCCTGCACGAGATCGACGTCATCAACTCTCGCACCCAGGGCTTCCTGGCGCTCTTCTCAGGTGACACAGGGGAGATCAAGTCAGAAGTCCGTGAGCAGATCAATGCCAAGGTGGCTGAGTGGCGCGAGGAGGGCAAGGCGGAGATCATCCCTGGAGTGCTGTTCATCGACGAGGTCCACATGCTGGACATCGAGAGCTTCTCCTTCCTCAACCGGGCCCTGGAGAGTGACATGGCGCCTGTCCTGATCATGGCCACCAACCGTGGCATCACGCGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAAAGGCGAGACCATGGACACCTCCTGA
Amino sequence
MATVTATTKVPEIRDVTRIERIGAHSHIRGLGLDDALEPRQASQGMVGQLAARRAAGVVLEMIREGKIAGRAVLIAGQPGTGKTAIAMGMAQALGPDTPFTAIAGSEIFSLEMSKTEALTQAFRRSIGVRIKEETEIIEGEVVEIQIDRPATGTGSKVGKLTLKTTEMETIYDLGTKMIESLTKDKVQAGDVITIDKATGKISKLGRSFTRARDYDAMGSQTKFVQCPDGELQKRKEVVHTVSLHEIDVINSRTQGFLALFSGDTGEIKSEVREQINAKVAEWREEGKAEIIPGVLFIDEVHMLDIESFSFLNRALESDMAPVLIMATNRGITRIRGTSYQSPHGIPIDLLDRLLIVSTTPYSEKDTKQILRIRCEEEDVEMSEDAYTVLTRIGLETSLRYAIQLITAASLVCRKRKGTEVQVDDIKRVYSLFLDESRSTQYMKEYQDAFLFNELKGETMDTS*