HsaEX0040630 @ hg19
Exon Skipping
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:7453]
Coordinates
chr13:25827902-25831459:-
Coord C1 exon
chr13:25831334-25831459
Coord A exon
chr13:25828523-25828572
Coord C2 exon
chr13:25827902-25828102
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-'11-14,'11-13,13-14
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)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)