HsaEX1024490 @ hg38
Exon Skipping
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:HGNC:16825]
Coordinates
chrX:64356176-64395431:-
Coord C1 exon
chrX:64395340-64395431
Coord A exon
chrX:64359405-64359527
Coord C2 exon
chrX:64356176-64356338
Length
123 bp
Sequences
Splice sites
3' ss Seq
ATTTTTTCCTCCAATAACAGGTA
3' ss Score
8.49
5' ss Seq
TGGGTATGT
5' ss Score
7.43
Exon sequences
Seq C1 exon
GGCGGCTAGACCGGTGGCGGCGGCATCTGGAGTAGCACTGAGATCTTCCGGTGGCGGGAACTGCAGTCATGGATCATATTACGGTACCCAAG
Seq A exon
GTAGAAAACGTGAAATTGGTGGATCGTTATGTGAGTAAGAAACCAGCTAATGGGATTCTTTATCTTACTGCAACCCACCTGATCTATGTGGAGGCTTCAGGTGCAGCCCGGAAAGAAACATGG
Seq C2 exon
ATTGCACTCCATCACATTGCCACTGTGGAGAAGTTACCCATCACTAGCCTGGGTTGTCCCCTGACCCTCCGCTGCAAGAATTTCCGGGTGGCCCACTTTGTTTTAGATTCTGACCTTGTGTGCCATGAGGTTTATATTTCACTGCTCAAGCTTTCTCAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043-'1-2,'1-1,4-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF116053=Vps36_ESCRT-II=PU(3.3=25.0)
A:
PF116053=Vps36_ESCRT-II=FE(66.7=100)
C2:
PF116053=Vps36_ESCRT-II=PD(25.0=27.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGCGGCATCTGGAGTAG
R:
CTGAGAAAGCTTGAGCAGTGA
Band lengths:
234-357
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains