HsaEX0040640 @ hg38
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17309277-17341497:-
Coord C1 exon
chr8:17341363-17341497
Coord A exon
chr8:17311511-17311636
Coord C2 exon
chr8:17309277-17309326
Length
126 bp
Sequences
Splice sites
3' ss Seq
GCGGATCGTGTGTTTTCTAGGCA
3' ss Score
8.16
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
GCCTCCATCTGCCGGAGCAGCCAGCCCCTGTCCGGCTTCAGTGCCCGGTGCCTAGAGGACGAGCAGATGCTCCAGGCCATTAGGAAAGCCAATCCAGGAAGTGACTTCGTTTATGTCGTTGACACCCGGCCTAAA
Seq A exon
GCAGTGTCAGAGGAAGGGGCAAGTGTGCTTGTTCACTGTTCTGATGGCTGGGACAGGACCGCTCAGGTGTGCTCGGTGGCAAGCCTGCTGCTGGACCCTCACTACCGGACTCTGAAGGGCTTCATG
Seq C2 exon
GTATTAATTGAAAAGGACTGGATTTCCTTTGGTCATAAGTTTAATCACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987_MULTIEX1-3/4=C1-4
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
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(12.0=100)
C2:
PF066029=Myotub-related=FE(4.7=100)
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:
GCCCCTGTCCGGCTTCAG
R:
CGGTGATTAAACTTATGACCAAAGGA
Band lengths:
162-288
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development