HsaEX0040647 @ hg38
Exon Skipping
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:HGNC:16825]
Coordinates
chrX:64337268-64348794:-
Coord C1 exon
chrX:64348660-64348794
Coord A exon
chrX:64345045-64345177
Coord C2 exon
chrX:64337268-64337393
Length
133 bp
Sequences
Splice sites
3' ss Seq
TATGTCCTCTGCTATTGCAGTTG
3' ss Score
7.86
5' ss Seq
AAGGTACAG
5' ss Score
8.04
Exon sequences
Seq C1 exon
GCTGCCATTTGCCGCTGTAGCCAGCCTCTCTCTGGATTTTACACTCGCTGTGTAGATGATGAGCTCTTGTTGGAGGCCATTAGCCAAACAAACCCAGGGAGCCAGTTTATGTATGTTGTAGACACAAGACCAAAG
Seq A exon
TTGAATGCCATGGCCAACCGAGCAGCTGGGAAGGGGTATGAAAATGAAGACAACTATGCCAACATTCGCTTCAGATTCATGGGCATTGAGAACATCCATGTAATGCGGAGCAGTCTGCAGAAACTCTTGGAAG
Seq C2 exon
GCAGTGAAGGTAGAAAAGGCCAGTGTCTTAGTCCATTGTTCTGATGGATGGGACCGCACAGCACAAGTCTGCTCAGTGGCTAGCATCCTCCTAGATCCATTTTATAGGACATTCAAAGGACTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043_MULTIEX1-1/2=C1-C2
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.022 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(12.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATTTGCCGCTGTAGCCAG
R:
TGTCCTATAAAATGGATCTAGGAGGA
Band lengths:
242-375
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