HsaEX6039623 @ hg38
Exon Skipping
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25257736-25261802:-
Coord C1 exon
chr13:25261668-25261802
Coord A exon
chr13:25258560-25258692
Coord C2 exon
chr13:25257736-25257845
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-'14-17,'14-16,20-17
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=0.067 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:
NA
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