HsaEX0040644 @ hg19
Exon Skipping
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:16825]
Coordinates
chrX:63551437-63557273:-
Coord C1 exon
chrX:63557148-63557273
Coord A exon
chrX:63555959-63556008
Coord C2 exon
chrX:63551437-63551637
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-'11-15,'11-14,13-15
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)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)