HsaEX0040646 @ hg38
Exon Skipping
Gene
ENSG00000102043 | MTMR8
Description
myotubularin related protein 8 [Source:HGNC Symbol;Acc:HGNC:16825]
Coordinates
chrX:64268081-64328900:-
Coord C1 exon
chrX:64328772-64328900
Coord A exon
chrX:64270947-64271073
Coord C2 exon
chrX:64268081-64269043
Length
127 bp
Sequences
Splice sites
3' ss Seq
CCCATTTTTGTCTATTTGAGGTT
3' ss Score
8.47
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
AGTCTATGAGAAAACACATTCTGTGTGGCCTTTCTTGGTTCAGAGGAAACCAGACTTCAGGAACCCTCTCTATAAAGGCTTCACTATGTATGGGGTACTCAATCCTAGTACTGTGCCCTACAACATTCA
Seq A exon
GTTCTGGTGTGGGATGTATAACCGCTTTGACAAAGGGCTGCAGCCCAAGCAGAGTATGCTAGAGAGCCTCCTGGAAATTAAGAAACAGAGAGCAATGCTGGAGACAGATGTGCATGAACTAGAAAAG
Seq C2 exon
AAACTAAAAGTCCGTGATGAGCCACCAGAAGAGATCTGTACCTGCTCTCAATTAGGAAACATATTATCCCAGCATCTGGGAAGTCCTTTGACCAATCCTCTTGGCTTTATGGGTATCAATGGAGACCTGAATACCCTGATGGAGAATGGCACCCTATCCAGGGAAGGAGGCCTCCGAGCTCAGATGGATCAAGTAAAAAGCCAGGGTGCAGACCTCCACCATAACTGTTGTGAGATTGTGGGCAGCCTTAGGGCCATAAATATCTCTGGGGATGTGGGCATCTCTGAGGCCATGGGCATCTCTGGAGACATGTGCACCTTTGAGGCTACGGGCTTCTCCAAAGACTTAGGAATCTGTGGGGCCATGGACATCTCTGAGGCCACTGGCATCTCTGGAAACTTGGGTATTTCTGAGGCCAGGGGTTTCTCTGGGGACATGGGCATCTTGGGGGACACAGGCATCTCCAAGGCCAGCACCAAGGAGGCAGACTACTCCAAGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000102043-'19-58,'19-56,24-58
Average complexity
C2
Mappability confidence:
80%=75=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.023 C2=0.107
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCAGACTTCAGGAACCCTCT
R:
GAGGCCTCCTTCCCTGGATAG
Band lengths:
255-382
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