HsaEX0040630 @ hg38
Exon Skipping
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25253764-25257321:-
Coord C1 exon
chr13:25257196-25257321
Coord A exon
chr13:25254385-25254434
Coord C2 exon
chr13:25253764-25253964
Length
50 bp
Sequences
Splice sites
3' ss Seq
TTTTACTTTTTCTCATTAAGGTT
3' ss Score
10
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GCAATAACAGTTGAAAATGCAAGTGTGTTGGTGCATTGTTCCGATGGTTGGGATAGGACTTCCCAGGTTTGTTCCCTGGGTTCTCTTTTATTGGATTCCTACTACAGGACAATCAAAGGATTCATG
Seq A exon
GTTTTAATAGAAAAGGATTGGATCTCTTTTGGACATAAATTTTCAGAGAG
Seq C2 exon
GTGTGGCCAGTTGGATGGTGACCCAAAGGAAGTCTCACCAGTGTTTACTCAGTTCTTGGAATGTGTGTGGCATTTGACCGAACAGTTTCCACAAGCCTTTGAATTCAGTGAAGCATTTCTTCTTCAGATCCATGAGCATATTCATTCATGCCAGTTTGGAAACTTCCTTGGAAATTGTCAGAAGGAAAGAGAAGAGCTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505_MULTIEX1-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(12.0=100)
A:
PF066029=Myotub-related=FE(4.7=100)
C2:
PF066029=Myotub-related=PD(19.2=97.1)
Main Skipping Isoform:
ENST00000381801fB4448
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGTTTGTTCCCTGGGTTCT
R:
TTCGGTCAAATGCCACACACA
Band lengths:
145-195
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development