HsaEX6039623 @ hg19
Exon Skipping
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:7453]
Coordinates
chr13:25831874-25835940:-
Coord C1 exon
chr13:25835806-25835940
Coord A exon
chr13:25832698-25832830
Coord C2 exon
chr13:25831874-25831983
Length
133 bp
Sequences
Splice sites
3' ss Seq
TCTAAAACTTTTAATTTTAGCTG
3' ss Score
6.12
5' ss Seq
AAGGTATAT
5' ss Score
7.84
Exon sequences
Seq C1 exon
GCTGCCATTTGTCGATGTAGTCAGCCACTCTCTGGATTCAGTGCCAGGTGCCTGGAGGATGAACATTTGCTTCAAGCCATTAGTAAAGCCAATCCAGTCAATCGCTATATGTACGTCATGGATACCAGGCCAAAA
Seq A exon
CTGAATGCAATGGCCAACAGAGCAGCTGGAAAAGGTTATGAAAATGAAGACAACTATTCCAATATTAGATTTCAGTTTGTTGGAATTGAAAATATTCATGTCATGAGGTCCAGCCTTCAGAAATTATTGGAAG
Seq C2 exon
TCAATGGCACTAAAGGGCTTTCTGTCAATGATTTCTACTCCGGTTTGGAGAGCTCGGGATGGCTTCGCCATATCAAAGCTGTTATGGATGCTGCAATCTTCTTGGCCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505-'6-9,'6-8,9-9=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=0.000 A=0.067 C2=0.000
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(12.8=100)
A:
PF066029=Myotub-related=FE(12.8=100)
C2:
PF066029=Myotub-related=FE(10.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGCCATTTGTCGATGTAGT
R:
TTGGCCAAGAAGATTGCAGCA
Band lengths:
244-377
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)