HsaEX6079627 @ hg19
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Coordinates
chr8:17159663-17163466:-
Coord C1 exon
chr8:17163266-17163466
Coord A exon
chr8:17161888-17162028
Coord C2 exon
chr8:17159663-17159789
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-'20-20,'20-19,22-20=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.014 C2=0.285
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=WD(100=97.6),PF153901=DUF4613=PU(17.0=69.0)
A:
PF153901=DUF4613=FE(27.5=100),PF061568=DUF972=PU(3.4=6.2),PF093326=Mcm10=PU(7.7=22.9)
C2:
PF153901=DUF4613=FE(24.6=100),PF061568=DUF972=FE(48.3=100),PF093326=Mcm10=FE(29.6=100),PF039618=DUF342=PU(37.2=74.4)
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
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)