HsaEX0040637 @ hg38
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17341363-17349081:-
Coord C1 exon
chr8:17348953-17349081
Coord A exon
chr8:17346014-17346159
Coord C2 exon
chr8:17341363-17341497
Length
146 bp
Sequences
Splice sites
3' ss Seq
AATGCTTCTGATTTGACTAGGGC
3' ss Score
6.74
5' ss Seq
CAGGTACAC
5' ss Score
7.29
Exon sequences
Seq C1 exon
GTCTGTGACTCTTATCCTACTGAACTGTACGTTCCCAAATCGGCCACGGCACACATCATAGTGGGGAGTTCCAAATTCCGGAGTAGACGGCGATTTCCTGTCCTTTCTTACTATTATAAAGATAACCAC
Seq A exon
GGCTTTTCCTAAAGGGAAGTATTATTACCAAAGGTGGATTTCTGTGCTTAATGGAAGACACTGAAATACCAGAGTAGTTATCTGTGCTGTCATTGCTCATCGATGGCCGTATAGAAAACAGGCAGTCTCCCACAAAAAGTAAACAG
Seq C2 exon
GCCTCCATCTGCCGGAGCAGCCAGCCCCTGTCCGGCTTCAGTGCCCGGTGCCTAGAGGACGAGCAGATGCTCCAGGCCATTAGGAAAGCCAATCCAGGAAGTGACTTCGTTTATGTCGTTGACACCCGGCCTAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987_MULTIEX2-7/7=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(12.2=100)
A:
NA
C2:
PF066029=Myotub-related=FE(12.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACTGTACGTTCCCAAATCGGC
R:
TTTAGGCCGGGTGTCAACGA
Band lengths:
242-388
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