HsaEX0040645 @ hg38
Exon Skipping
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:HGNC:16825]
Coordinates
chrX:64270947-64331757:-
Coord C1 exon
chrX:64331557-64331757
Coord A exon
chrX:64328772-64328900
Coord C2 exon
chrX:64270947-64271073
Length
129 bp
Sequences
Splice sites
3' ss Seq
TTGTTTTTCTTTTCTAACAGAGT
3' ss Score
10.37
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
Exon sequences
Seq C1 exon
GTGTGGCCACCTCGATGGGGACTCTAAAGAAGTGTCCCCTATCTTCACCCAGTTCCTAGACTGTATCTGGCAATTAATGGAACAGTTTCCCTGTGCCTTTGAGTTTAATGAAAACTTCCTGCTGGAGATTCATGACCATGTTTTCTCCTGCCAGTTTGGAAACTTCCTTGGTAACTGCCAGAAGGATCGGGAAGATCTAAG
Seq A exon
AGTCTATGAGAAAACACATTCTGTGTGGCCTTTCTTGGTTCAGAGGAAACCAGACTTCAGGAACCCTCTCTATAAAGGCTTCACTATGTATGGGGTACTCAATCCTAGTACTGTGCCCTACAACATTCA
Seq C2 exon
GTTCTGGTGTGGGATGTATAACCGCTTTGACAAAGGGCTGCAGCCCAAGCAGAGTATGCTAGAGAGCCTCCTGGAAATTAAGAAACAGAGAGCAATGCTGGAGACAGATGTGCATGAACTAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043_CASSETTE1
Average complexity
S*
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=0.023
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=PD(19.2=97.1)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACCTCGATGGGGACTCTAA
R:
CATACTCTGCTTGGGCTGCA
Band lengths:
253-382
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