Special

HsaEX6039624 @ hg38

Exon Skipping

Gene
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25257196-25258692:-
Coord C1 exon
chr13:25258560-25258692
Coord A exon
chr13:25257736-25257845
Coord C2 exon
chr13:25257196-25257321
Length
110 bp
Sequences
Splice sites
3' ss Seq
TATTTTTATACCTCTTTCAGTCA
3' ss Score
6.77
5' ss Seq
AAAGTAATA
5' ss Score
0.92
Exon sequences
Seq C1 exon
CTGAATGCAATGGCCAACAGAGCAGCTGGAAAAGGTTATGAAAATGAAGACAACTATTCCAATATTAGATTTCAGTTTGTTGGAATTGAAAATATTCATGTCATGAGGTCCAGCCTTCAGAAATTATTGGAAG
Seq A exon
TCAATGGCACTAAAGGGCTTTCTGTCAATGATTTCTACTCCGGTTTGGAGAGCTCGGGATGGCTTCGCCATATCAAAGCTGTTATGGATGCTGCAATCTTCTTGGCCAAA
Seq C2 exon
GCAATAACAGTTGAAAATGCAAGTGTGTTGGTGCATTGTTCCGATGGTTGGGATAGGACTTCCCAGGTTTGTTCCCTGGGTTCTCTTTTATTGGATTCCTACTACAGGACAATCAAAGGATTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505-'20-18,'20-17,21-18=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.067 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF066029=Myotub-related=FE(12.8=100)
A:
PF066029=Myotub-related=FE(10.5=100)
C2:
PF066029=Myotub-related=FE(12.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAATGCAATGGCCAACAGAGC
R:
CATGAATCCTTTGATTGTCCTGT
Band lengths:
257-367
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains