HsaEX6079624 @ hg19
Exon Skipping
Gene
ENSG00000003987 | MTMR7
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Coordinates
chr8:17206462-17228708:-
Coord C1 exon
chr8:17228546-17228708
Coord A exon
chr8:17218626-17218783
Coord C2 exon
chr8:17206462-17206590
Length
158 bp
Sequences
Splice sites
3' ss Seq
TATCCTACCTTTTCTTGCAGTGA
3' ss Score
9.12
5' ss Seq
AGAGTGAGT
5' ss Score
7.36
Exon sequences
Seq C1 exon
ATTCTTCACAGTCAGATTTCCACCATTGAGAAACAGGCAACAACCGCTACCGGATGCCCTCTGCTGATTCGCTGCAAGAACTTTCAGATAATACAGCTCATCATACCTCAGGAAAGAGATTGCCACGACGTGTACATCTCCCTGATACGCCTTGCAAGGCCAG
Seq A exon
TGAAATATGAGGAGTTATACTGCTTTTCATTCAACCCCATGCTGGATAAAGAAGAAAGAGAGCAAGGCTGGGTGCTGATCGATCTTAGTGAAGAATACACGCGGATGGGCCTCCCTAATCATTACTGGCAGCTCAGCGATGTGAATAGAGACTACAGA
Seq C2 exon
GTCTGTGACTCTTATCCTACTGAACTGTACGTTCCCAAATCGGCCACGGCACACATCATAGTGGGGAGTTCCAAATTCCGGAGTAGACGGCGATTTCCTGTCCTTTCTTACTATTATAAAGATAACCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987-'4-6,'4-3,5-6=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0289315=GRAM=PD(24.0=21.8)
A:
PF066029=Myotub-related=PU(14.0=90.6)
C2:
PF066029=Myotub-related=FE(12.2=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAACAGGCAACAACCGCTA
R:
GAAAGGACAGGAAATCGCCGT
Band lengths:
242-400
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)