HsaEX0040648 @ hg19
Exon Skipping
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:16825]
Coordinates
chrX:63557148-63568674:-
Coord C1 exon
chrX:63568540-63568674
Coord A exon
chrX:63563491-63563600
Coord C2 exon
chrX:63557148-63557273
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
GCTGCCATTTGCCGCTGTAGCCAGCCTCTCTCTGGATTTTACACTCGCTGTGTAGATGATGAGCTCTTGTTGGAGGCCATTAGCCAAACAAACCCAGGGAGCCAGTTTATGTATGTTGTAGACACAAGACCAAAG
Seq A exon
TTTGTGAATTGAAAACTCCAACAATGAGTGAATTTCTTAGCGGCCTGGAGAGCTCAGGGTGGTTAAGACACATTAAAGCTATTATGGATGCTGGAATTTTCATTACAAAG
Seq C2 exon
GCAGTGAAGGTAGAAAAGGCCAGTGTCTTAGTCCATTGTTCTGATGGATGGGACCGCACAGCACAAGTCTGCTCAGTGGCTAGCATCCTCCTAGATCCATTTTATAGGACATTCAAAGGACTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043_MULTIEX1-2/4=C1-3
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=0.000 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 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:
CCATTTGCCGCTGTAGCCAG
R:
TGTCCTATAAAATGGATCTAGGAGGA
Band lengths:
242-352
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)