ENST00000595090.6 RUVBL2

Information
Transcript ID
ENST00000595090.6
Genome
hg38
Position
chr19:48,993,887-49,015,970
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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Target data :
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 48,993,887 48,993,923
2 48,999,319 48,999,373
3 49,003,279 49,003,334
4 49,004,277 49,004,418
5 49,007,018 49,007,147
6 49,007,302 49,007,368
7 49,009,776 49,009,882
8 49,009,973 49,010,066
9 49,010,488 49,010,611
10 49,010,999 49,011,093
11 49,011,192 49,011,310
12 49,014,484 49,014,603
13 49,015,021 49,015,150
14 49,015,572 49,015,686
15 49,015,817 49,015,970
CDS
Exon number Type Start Stop
1 CDS 48,993,912 48,993,923
2 CDS 48,999,319 48,999,373
3 CDS 49,003,279 49,003,334
4 CDS 49,004,277 49,004,418
5 CDS 49,007,018 49,007,147
6 CDS 49,007,302 49,007,368
7 CDS 49,009,776 49,009,882
8 CDS 49,009,973 49,010,066
9 CDS 49,010,488 49,010,611
10 CDS 49,010,999 49,011,093
11 CDS 49,011,192 49,011,310
12 CDS 49,014,484 49,014,603
13 CDS 49,015,021 49,015,150
14 CDS 49,015,572 49,015,686
15 CDS 49,015,817 49,015,842
Other genome
Genome Chromosome Start End Links
hg19 chr19 49,497,144 49,519,227 Link
CDS sequence
ATGGCAACCGTTACAGCCACAACCAAAGTCCCGGAGATCCGTGATGTAACAAGGATTGAGCGAATCGGTGCCCACTCCCACATCCGGGGACTGGGGCTGGACGATGCCTTGGAGCCTCGGCAGGCTTCGCAAGGCATGGTGGGTCAGCTGGCGGCACGGCGGGCGGCTGGCGTGGTGCTGGAGATGATCCGGGAAGGGAAGATTGCCGGTCGGGCAGTCCTTATTGCTGGCCAGCCGGGCACGGGGAAGACGGCCATCGCCATGGGCATGGCGCAGGCCCTGGGCCCTGACACGCCATTCACAGCCATCGCCGGCAGTGAAATCTTCTCCCTGGAGATGAGCAAGACCGAGGCGCTGACGCAGGCCTTCCGGCGGTCCATCGGCGTTCGCATCAAGGAGGAGACGGAGATCATCGAAGGGGAGGTGGTGGAGATCCAGATTGATCGACCAGCAACAGGGACGGGCTCCAAGGTGGGCAAACTGACCCTCAAGACCACAGAGATGGAGACCATCTACGACCTGGGCACCAAGATGATTGAGTCCCTGACCAAGGACAAGGTCCAGGCCGGGGACGTGATCACCATCGACAAGGCGACGGGCAAGATCTCCAAGCTGGGCCGCTCCTTCACACGCGCCCGCGACTACGACGCTATGGGCTCCCAGACCAAGTTCGTGCAGTGCCCAGATGGGGAGCTCCAGAAACGCAAGGAGGTGGTGCACACCGTGTCCCTGCACGAGATCGACGTCATCAACTCTCGCACCCAGGGCTTCCTGGCGCTCTTCTCAGGTGACACAGGGGAGATCAAGTCAGAAGTCCGTGAGCAGATCAATGCCAAGGTGGCTGAGTGGCGCGAGGAGGGCAAGGCGGAGATCATCCCTGGAGTGCTGTTCATCGACGAGGTCCACATGCTGGACATCGAGAGCTTCTCCTTCCTCAACCGGGCCCTGGAGAGTGACATGGCGCCTGTCCTGATCATGGCCACCAACCGTGGCATCACGCGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGAGGAAGAAGATGTGGAGATGAGTGAGGACGCCTACACGGTGCTGACCCGCATCGGGCTGGAGACGTCACTGCGCTACGCCATCCAGCTCATCACAGCTGCCAGCTTGGTGTGCCGGAAACGCAAGGGTACAGAAGTGCAGGTGGATGACATCAAGCGGGTCTACTCACTCTTCCTGGACGAGTCCCGCTCCACGCAGTACATGAAGGAGTACCAGGACGCCTTCCTCTTCAACGAACTCAAAGGCGAGACCATGGACACCTCCTGA
Amino sequence
MATVTATTKVPEIRDVTRIERIGAHSHIRGLGLDDALEPRQASQGMVGQLAARRAAGVVLEMIREGKIAGRAVLIAGQPGTGKTAIAMGMAQALGPDTPFTAIAGSEIFSLEMSKTEALTQAFRRSIGVRIKEETEIIEGEVVEIQIDRPATGTGSKVGKLTLKTTEMETIYDLGTKMIESLTKDKVQAGDVITIDKATGKISKLGRSFTRARDYDAMGSQTKFVQCPDGELQKRKEVVHTVSLHEIDVINSRTQGFLALFSGDTGEIKSEVREQINAKVAEWREEGKAEIIPGVLFIDEVHMLDIESFSFLNRALESDMAPVLIMATNRGITRIRGTSYQSPHGIPIDLLDRLLIVSTTPYSEKDTKQILRIRCEEEDVEMSEDAYTVLTRIGLETSLRYAIQLITAASLVCRKRKGTEVQVDDIKRVYSLFLDESRSTQYMKEYQDAFLFNELKGETMDTS*