HsaEX0040648 @ hg38
Exon Skipping
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:HGNC:16825]
Coordinates
chrX:64337268-64345177:-
Coord C1 exon
chrX:64345045-64345177
Coord A exon
chrX:64343611-64343720
Coord C2 exon
chrX:64337268-64337393
Length
110 bp
Sequences
Splice sites
3' ss Seq
TGCTTCCTTTTCTACCTTAGTTT
3' ss Score
8.28
5' ss Seq
AAGGTAATA
5' ss Score
8.49
Exon sequences
Seq C1 exon
TTGAATGCCATGGCCAACCGAGCAGCTGGGAAGGGGTATGAAAATGAAGACAACTATGCCAACATTCGCTTCAGATTCATGGGCATTGAGAACATCCATGTAATGCGGAGCAGTCTGCAGAAACTCTTGGAAG
Seq A exon
TTTGTGAATTGAAAACTCCAACAATGAGTGAATTTCTTAGCGGCCTGGAGAGCTCAGGGTGGTTAAGACACATTAAAGCTATTATGGATGCTGGAATTTTCATTACAAAG
Seq C2 exon
GCAGTGAAGGTAGAAAAGGCCAGTGTCTTAGTCCATTGTTCTGATGGATGGGACCGCACAGCACAAGTCTGCTCAGTGGCTAGCATCCTCCTAGATCCATTTTATAGGACATTCAAAGGACTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043_MULTIEX1-2/2=1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.022 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(12.8=100)
A:
PF066029=Myotub-related=FE(10.5=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
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGAATGCCATGGCCAACCG
R:
TGTCCTATAAAATGGATCTAGGAGGA
Band lengths:
244-354
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development