HsaEX6039626 @ hg38
Exon Skipping
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25251853-25254434:-
Coord C1 exon
chr13:25254385-25254434
Coord A exon
chr13:25253764-25253837
Coord C2 exon
chr13:25251853-25251984
Length
74 bp
Sequences
Splice sites
3' ss Seq
GTGAAGCATTTCTTCTTCAGATC
3' ss Score
6.65
5' ss Seq
CAAGTAAGA
5' ss Score
7.61
Exon sequences
Seq C1 exon
GTTTTAATAGAAAAGGATTGGATCTCTTTTGGACATAAATTTTCAGAGAG
Seq A exon
ATCCATGAGCATATTCATTCATGCCAGTTTGGAAACTTCCTTGGAAATTGTCAGAAGGAAAGAGAAGAGCTCAA
Seq C2 exon
GTTGAAGGAGAAGACTTATTCCCTGTGGCCATTTCTTTTGGAAGACCAAAAGAAGTACTTAAATCCTCTCTACAGTTCCGAATCTCACAGATTTACAGTTTTGGAGCCAAATACAGTATCTTTCAATTTTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505-'24-25,'24-24,25-25
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(4.7=100)
A:
PF066029=Myotub-related=PD(19.2=97.1)
C2:
NO
Main Skipping Isoform:
NA
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:
AGAAAAGGATTGGATCTCTTTTGGAC
R:
TGAAAGATACTGTATTTGGCTCCA
Band lengths:
167-241
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains