HsaEX0040641 @ hg38
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17305757-17341497:-
Coord C1 exon
chr8:17341363-17341497
Coord A exon
chr8:17309277-17309326
Coord C2 exon
chr8:17305757-17305957
Length
50 bp
Sequences
Splice sites
3' ss Seq
TTGTATTCTTTCTTGTGTAGGTA
3' ss Score
10.57
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
Exon sequences
Seq C1 exon
GCCTCCATCTGCCGGAGCAGCCAGCCCCTGTCCGGCTTCAGTGCCCGGTGCCTAGAGGACGAGCAGATGCTCCAGGCCATTAGGAAAGCCAATCCAGGAAGTGACTTCGTTTATGTCGTTGACACCCGGCCTAAA
Seq A exon
GTATTAATTGAAAAGGACTGGATTTCCTTTGGTCATAAGTTTAATCACCG
Seq C2 exon
ATATGGCAATCTAGATGGTGACCCAAAAGAAATCTCTCCAGTTATTGACCAGTTCATTGAGTGTGTTTGGCAGTTAATGGAACAATTTCCCTGTGCCTTTGAGTTCAATGAGAGGTTTTTGATTCACATTCAACATCACATTTATTCCTGCCAGTTTGGAAACTTCCTATGTAACAGCCAAAAGGAGAGACGAGAACTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987_MULTIEX1-4/4=C1-C2
Average complexity
C2
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(12.8=100)
A:
PF066029=Myotub-related=FE(4.7=100)
C2:
PF066029=Myotub-related=PD(19.2=97.1)
Main Skipping Isoform:
ENST00000180173fB20378
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTATGTCGTTGACACCCGGC
R:
TGAACTCAAAGGCACAGGGAA
Band lengths:
133-183
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development