HsaEX0040644 @ hg38
Exon Skipping
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:HGNC:16825]
Coordinates
chrX:64331557-64337393:-
Coord C1 exon
chrX:64337268-64337393
Coord A exon
chrX:64336079-64336128
Coord C2 exon
chrX:64331557-64331757
Length
50 bp
Sequences
Splice sites
3' ss Seq
TTCTTTTCTATAAAATGAAGATC
3' ss Score
2.94
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GCAGTGAAGGTAGAAAAGGCCAGTGTCTTAGTCCATTGTTCTGATGGATGGGACCGCACAGCACAAGTCTGCTCAGTGGCTAGCATCCTCCTAGATCCATTTTATAGGACATTCAAAGGACTCATG
Seq A exon
ATCTTGATAGAGAAGGAATGGATATCCATGGGCCACAAGTTTTCCCAAAG
Seq C2 exon
GTGTGGCCACCTCGATGGGGACTCTAAAGAAGTGTCCCCTATCTTCACCCAGTTCCTAGACTGTATCTGGCAATTAATGGAACAGTTTCCCTGTGCCTTTGAGTTTAATGAAAACTTCCTGCTGGAGATTCATGACCATGTTTTCTCCTGCCAGTTTGGAAACTTCCTTGGTAACTGCCAGAAGGATCGGGAAGATCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(12.0=100)
A:
PF066029=Myotub-related=FE(4.7=100)
C2:
PF066029=Myotub-related=PD(19.2=97.1)
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:
TTGTTCTGATGGATGGGACCG
R:
TGGGTGAAGATAGGGGACACT
Band lengths:
142-192
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