HsaEX6052048 @ hg19
Exon Skipping
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:16825]
Coordinates
chrX:63548652-63556008:-
Coord C1 exon
chrX:63555959-63556008
Coord A exon
chrX:63551437-63551637
Coord C2 exon
chrX:63548652-63548780
Length
201 bp
Sequences
Splice sites
3' ss Seq
CCTTTATTTTCATCTCTCAGGTG
3' ss Score
10.81
5' ss Seq
AAGGTGAAT
5' ss Score
6.38
Exon sequences
Seq C1 exon
ATCTTGATAGAGAAGGAATGGATATCCATGGGCCACAAGTTTTCCCAAAG
Seq A exon
GTGTGGCCACCTCGATGGGGACTCTAAAGAAGTGTCCCCTATCTTCACCCAGTTCCTAGACTGTATCTGGCAATTAATGGAACAGTTTCCCTGTGCCTTTGAGTTTAATGAAAACTTCCTGCTGGAGATTCATGACCATGTTTTCTCCTGCCAGTTTGGAAACTTCCTTGGTAACTGCCAGAAGGATCGGGAAGATCTAAG
Seq C2 exon
AGTCTATGAGAAAACACATTCTGTGTGGCCTTTCTTGGTTCAGAGGAAACCAGACTTCAGGAACCCTCTCTATAAAGGCTTCACTATGTATGGGGTACTCAATCCTAGTACTGTGCCCTACAACATTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043-'13-16,'13-15,14-16=AN
Average complexity
A_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:
PF066029=Myotub-related=FE(4.7=100)
A:
PF066029=Myotub-related=PD(19.2=97.1)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTGATAGAGAAGGAATGGATATCC
R:
TGTTGTAGGGCACAGTACTAGGA
Band lengths:
174-375
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)