ENST00000538204.6 MBNL3

Information
Transcript ID
ENST00000538204.6
Genome
hg19
Position
chrX:131,503,348-131,547,603
Strand
-
CDS length
879
Amino acid length
293
Gene symbol
MBNL3
Gene type
protein-coding
Gene description
muscleblind like splicing regulator 3
Gene Entrez Gene ID
55796
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
7 131,503,348 131,513,705
6 131,516,206 131,516,300
5 131,520,689 131,520,839
4 131,524,875 131,525,111
3 131,526,171 131,526,362
2 131,540,256 131,540,420
1 131,547,511 131,547,603
CDS
Exon number Type Start Stop
7 CDS 131,513,694 131,513,705
6 CDS 131,516,206 131,516,300
5 CDS 131,520,689 131,520,839
4 CDS 131,524,875 131,525,111
3 CDS 131,526,171 131,526,362
2 CDS 131,540,256 131,540,420
1 CDS 131,547,511 131,547,537
Other genome
Genome Chromosome Start End Links
hg38 chrX 132,369,320 132,413,575 Link
CDS sequence
ATGGAGAGGGCTTCTAAGAATCTTAAGGGTCGGTGTACCCGAGAGAACTGCAAGTACCTTCACCCTCCTCCACACTTAAAAACGCAGCTGGAGATTAATGGGCGGAACAATCTGATTCAACAGAAGACTGCCGCAGCCATGTTCGCCCAGCAGATGCAGCTTATGCTCCAAAACGCTCAAATGTCATCACTTGGTTCTTTTCCTATGACTCCATCAATTCCAGCTAATCCTCCCATGGCTTTCAATCCTTACATACCACATCCTGGGATGGGCCTCGTTCCTGCAGAACTTGTACCAAATACACCTGTTCTGATTCCTGGAAACCCACCTCTTGCAATGCCAGGAGCTGTTGGCCCAAAACTGATGCGTTCAGATAAACTGGAGGTTTGCCGAGAATTTCAGCGTGGAAATTGTACCCGTGGGGAGAATGATTGCCGCTATGCTCACCCTACTGATGCTTCCATGATTGAAGCGAGTGATAATACTGTGACAATCTGCATGGATTACATCAAAGGTCGATGCTCGCGGGAGAAATGCAAGTACTTTCATCCTCCTGCACACTTGCAAGCCAGACTCAAGGCAGCTCATCATCAGATGAACCATTCAGCTGCCTCTGCCATGGCCCTGCAGCCTGGTACACTGCAACTGATACCAAAGAGATCAGCACTGGAAAAGCCCAATGGTGCCACCCCGGTCTTTAATCCCACTGTTTTCCACTGCCAACAGGCTCTGACTAACCTGCAGCTCCCACAGCCGGCATTTATCCCTGCAGTGCCCATGATGCACGGTGCTACACCTACCACTGTGTCTGCAGCAACAACACCTGCCACCAGCGTTCCGTTCGCTGCACCAACTACAGGCAATCAGCTGAAATTCTGA
Amino sequence
MERASKNLKGRCTRENCKYLHPPPHLKTQLEINGRNNLIQQKTAAAMFAQQMQLMLQNAQMSSLGSFPMTPSIPANPPMAFNPYIPHPGMGLVPAELVPNTPVLIPGNPPLAMPGAVGPKLMRSDKLEVCREFQRGNCTRGENDCRYAHPTDASMIEASDNTVTICMDYIKGRCSREKCKYFHPPAHLQARLKAAHHQMNHSAASAMALQPGTLQLIPKRSALEKPNGATPVFNPTVFHCQQALTNLQLPQPAFIPAVPMMHGATPTTVSAATTPATSVPFAAPTTGNQLKF*