HsaEX0040638 @ hg19
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Coordinates
chr8:17170801-17199006:-
Coord C1 exon
chr8:17198872-17199006
Coord A exon
chr8:17188659-17188791
Coord C2 exon
chr8:17170801-17170910
Length
133 bp
Sequences
Splice sites
3' ss Seq
TGTTTTGCTGACCACTGCAGCTT
3' ss Score
6.33
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
GCCTCCATCTGCCGGAGCAGCCAGCCCCTGTCCGGCTTCAGTGCCCGGTGCCTAGAGGACGAGCAGATGCTCCAGGCCATTAGGAAAGCCAATCCAGGAAGTGACTTCGTTTATGTCGTTGACACCCGGCCTAAA
Seq A exon
CTTAATGCAATGGCAAATCGTGCTGCAGGGAAAGGCTATGAGAATGAAGACAATTATTCCAATATCAAGTTTCAGTTTATCGGGATAGAGAACATCCATGTCATGAGGAACAGTCTGCAGAAAATGCTGGAAG
Seq C2 exon
TGTGTGAACTTAAATCTCCCTCCATGAGTGATTTCCTGTGGGGTCTGGAGAACTCTGGCTGGTTAAGGCACATTAAAGCCATAATGGATGCAGGAATCTTCATTGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987_MULTIEX1-1/4=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
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 Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCTGTCCGGCTTCAGT
R:
TGCAATGAAGATTCCTGCATCCA
Band lengths:
218-351
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)