HsaEX6079627 @ hg38
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17302154-17305957:-
Coord C1 exon
chr8:17305757-17305957
Coord A exon
chr8:17304379-17304519
Coord C2 exon
chr8:17302154-17302280
Length
141 bp
Sequences
Splice sites
3' ss Seq
ACTTATTTTCTTTATAACAGGAT
3' ss Score
9.27
5' ss Seq
CAAGTATGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
ATATGGCAATCTAGATGGTGACCCAAAAGAAATCTCTCCAGTTATTGACCAGTTCATTGAGTGTGTTTGGCAGTTAATGGAACAATTTCCCTGTGCCTTTGAGTTCAATGAGAGGTTTTTGATTCACATTCAACATCACATTTATTCCTGCCAGTTTGGAAACTTCCTATGTAACAGCCAAAAGGAGAGACGAGAACTCAA
Seq A exon
GATTCAAGAAAGAACATACTCATTATGGGCTCACCTGTGGAAGAATCGGGCCGACTACCTGAATCCTCTGTTTAGAGCTGATCACAGCCAGACTCAGGGAACCCTTCATCTCCCTACAACACCATGTAACTTCATGTACAA
Seq C2 exon
GTTTTGGAGTGGAATGTATAACCGCTTTGAAAAGGGGATGCAGCCCCGACAGTCAGTTACAGATTACCTAATGGCAGTGAAGGAAGAAACTCAGCAGCTAGAGGAAGAACTAGAGGCCCTGGAAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987-'47-46,'47-44,50-46
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=0.010 C2=0.241
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=PD(19.2=97.1)
A:
PF093326=Mcm10=PU(7.9=22.9)
C2:
PF093326=Mcm10=FE(30.0=100)
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:
TGGCAATCTAGATGGTGACCC
R:
GCTGCATCCCCTTTTCAAAGC
Band lengths:
242-383
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains