HsaEX0040642 @ hg19
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Coordinates
chr8:17218626-17270836:-
Coord C1 exon
chr8:17270778-17270836
Coord A exon
chr8:17230627-17230749
Coord C2 exon
chr8:17218626-17218783
Length
123 bp
Sequences
Splice sites
3' ss Seq
CATCATGCCGATTTCTCTAGGTT
3' ss Score
7.59
5' ss Seq
TGGGTATGC
5' ss Score
6.57
Exon sequences
Seq C1 exon
GCGCCCGCCCGGGACCCTGCAGACGTGGGCCAGCCATGGAGCACATCCGTACGCCCAAG
Seq A exon
GTTGAAAATGTCCGCTTGGTAGATCGAGTGTCTCCTAAAAAAGCAGCTCTAGGTACTTTGTATTTGACGGCTACCCATGTCATATTCGTGGAAAATTCACCTGACCCAAGAAAAGAAACATGG
Seq C2 exon
TGAAATATGAGGAGTTATACTGCTTTTCATTCAACCCCATGCTGGATAAAGAAGAAAGAGAGCAAGGCTGGGTGCTGATCGATCTTAGTGAAGAATACACGCGGATGGGCCTCCCTAATCATTACTGGCAGCTCAGCGATGTGAATAGAGACTACAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987_MULTIEX2-1/3=C1-3
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.125 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0289315=GRAM=PU(3.5=25.0)
A:
PF0289315=GRAM=PU(72.0=87.8)
C2:
PF066029=Myotub-related=PU(14.0=90.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGGACCCTGCAGACGTGG
R:
AGTCTCTATTCACATCGCTGAGC
Band lengths:
202-325
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)