HsaEX1024480 @ hg38
Exon Skipping
Gene
ENSG00000139505 | MTMR6
Description
myotubularin related protein 6 [Source:HGNC Symbol;Acc:HGNC:7453]
Coordinates
chr13:25251649-25253964:-
Coord C1 exon
chr13:25253764-25253964
Coord A exon
chr13:25251853-25251984
Coord C2 exon
chr13:25251649-25251775
Length
132 bp
Sequences
Splice sites
3' ss Seq
GTTTTTCTCATTATATTAAGGTT
3' ss Score
7.12
5' ss Seq
TAAGTAAGT
5' ss Score
8.07
Exon sequences
Seq C1 exon
GTGTGGCCAGTTGGATGGTGACCCAAAGGAAGTCTCACCAGTGTTTACTCAGTTCTTGGAATGTGTGTGGCATTTGACCGAACAGTTTCCACAAGCCTTTGAATTCAGTGAAGCATTTCTTCTTCAGATCCATGAGCATATTCATTCATGCCAGTTTGGAAACTTCCTTGGAAATTGTCAGAAGGAAAGAGAAGAGCTCAA
Seq A exon
GTTGAAGGAGAAGACTTATTCCCTGTGGCCATTTCTTTTGGAAGACCAAAAGAAGTACTTAAATCCTCTCTACAGTTCCGAATCTCACAGATTTACAGTTTTGGAGCCAAATACAGTATCTTTCAATTTTAA
Seq C2 exon
GTTTTGGAGGAACATGTACCATCAATTTGATCGAACACTGCATCCTAGGCAGTCTGTATTTAATATAATTATGAATATGAATGAGCAAAATAAACAATTAGAGAAAGATATTAAAGACCTAGAATCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139505-'25-26,'25-25,26-26
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.233
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=PD(19.2=97.1)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGTTGGATGGTGACCCAAA
R:
TGCCTAGGATGCAGTGTTCGA
Band lengths:
246-378
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains