HsaEX1046626 @ hg38
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17361117-17413327:-
Coord C1 exon
chr8:17413269-17413327
Coord A exon
chr8:17373118-17373240
Coord C2 exon
chr8:17361117-17361274
Length
123 bp
Sequences
Splice sites
3' ss Seq
CATCATGCCGATTTCTCTAGGTT
3' ss Score
7.59
5' ss Seq
TGGGTATGC
5' ss Score
6.57
Exon sequences
Seq C1 exon
GCGCCCGCCCGGGACCCTGCAGACGTGGGCCAGCCATGGAGCACATCCGTACGCCCAAG
Seq A exon
GTTGAAAATGTCCGCTTGGTAGATCGAGTGTCTCCTAAAAAAGCAGCTCTAGGTACTTTGTATTTGACGGCTACCCATGTCATATTCGTGGAAAATTCACCTGACCCAAGAAAAGAAACATGG
Seq C2 exon
TGAAATATGAGGAGTTATACTGCTTTTCATTCAACCCCATGCTGGATAAAGAAGAAAGAGAGCAAGGCTGGGTGCTGATCGATCTTAGTGAAGAATACACGCGGATGGGCCTCCCTAATCATTACTGGCAGCTCAGCGATGTGAATAGAGACTACAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987_MULTIEX2-2/7=C1-5
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.176 A=0.039 C2=0.000
Domain overlap (PFAM):
C1:
PF0289315=GRAM=PU(10.6=62.5)
A:
PF0289315=GRAM=PU(72.0=87.8)
C2:
PF066029=Myotub-related=PU(14.0=90.6)
Main Skipping Isoform:
ENST00000180173fB20382
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGACCCTGCAGACGTGG
R:
AGTCTCTATTCACATCGCTGAGC
Band lengths:
202-325
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains