HsaEX0040633 @ hg19
Exon Skipping
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:7453]
Coordinates
chr13:25832698-25835940:-
Coord C1 exon
chr13:25835806-25835940
Coord A exon
chr13:25834712-25834825
Coord C2 exon
chr13:25832698-25832830
Length
114 bp
Sequences
Splice sites
3' ss Seq
ACTTTTAATTTTTGTTATAGCGT
3' ss Score
8.72
5' ss Seq
CGAGTGAGC
5' ss Score
5.16
Exon sequences
Seq C1 exon
GCTGCCATTTGTCGATGTAGTCAGCCACTCTCTGGATTCAGTGCCAGGTGCCTGGAGGATGAACATTTGCTTCAAGCCATTAGTAAAGCCAATCCAGTCAATCGCTATATGTACGTCATGGATACCAGGCCAAAA
Seq A exon
CGTCGCATGCAGAGCTGGTGGGCTACACAAAAGGACATTGGCAGAATTATAGTGAGGATTTCTTCAAAAATCCAGAATGATGAGAAAATAAGAGAAAGCAATGAGAAAAAGCGA
Seq C2 exon
CTGAATGCAATGGCCAACAGAGCAGCTGGAAAAGGTTATGAAAATGAAGACAACTATTCCAATATTAGATTTCAGTTTGTTGGAATTGAAAATATTCATGTCATGAGGTCCAGCCTTCAGAAATTATTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505-'6-8,'6-7,7-8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.000 A=0.263 C2=0.067
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(12.8=100)
A:
PF066029=Myotub-related=FE(9.7=100)
C2:
PF066029=Myotub-related=FE(12.8=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGTCGATGTAGTCAGCCACT
R:
GGCTGGACCTCATGACATGAA
Band lengths:
242-356
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)