HsaEX0067499 @ hg19
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Coordinates
chr9:135779038-135781526:-
Coord C1 exon
chr9:135780968-135781526
Coord A exon
chr9:135779798-135779841
Coord C2 exon
chr9:135779038-135779204
Length
44 bp
Sequences
Splice sites
3' ss Seq
CTCAAAAACTTTCTTCCTAGGTT
3' ss Score
6.96
5' ss Seq
GAGGTAAAG
5' ss Score
8.27
Exon sequences
Seq C1 exon
CGAGGAGGCTTTGACTCTCCCTTTTACCGAGACAGTCTCCCAGGTTCTCAGCGGAAGACCCACTCGGCAGCCTCCAGTTCTCAGGGCGCCAGCGTGAACCCTGAGCCTTTACACTCCTCCCTGGACAAGCTTGGGCCTGACACACCAAAGCAAGCCTTTACTCCCATAGACCTGCCCTGCGGCAGTGCTGATGAAAGCCCTGCGGGAGACAGGGAATGCCAGACTTCTTTGGAGACCAGTATCTTCACTCCCAGTCCTTGTAAAATTCCACCTCCGACGAGAGTGGGCTTTGGAAGCGGGCAGCCTCCCCCGTATGATCATCTTTTTGAGGTGGCATTGCCAAAGACAGCCCATCATTTTGTCATCAGGAAGACTGAGGAGCTGTTAAAGAAAGCAAAAGGAAACACAGAGGAAGATGGTGTGCCCTCTACCTCCCCAATGGAAGTGCTGGACAGACTGATACAGCAGGGAGCAGACGCGCACAGCAAGGAGCTGAACAA
Seq A exon
GTTGCCTTTACCCAGCAAGTCTGTCGACTGGACCCACTTTGGAG
Seq C2 exon
GCTCTCCTCCTTCAGATGAGATCCGCACCCTCCGAGACCAGTTGCTTTTACTGCACAACCAGTTACTCTATGAGCGTTTTAAGAGGCAGCAGCATGCCCTCCGGAACAGGCGGCTCCTCCGCAAGGTGATCAAAGCAGCAGCTCTGGAGGAACATAATGCTGCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.882 A=0.688 C2=0.161
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(25.9=100)
A:
PF043887=Hamartin=FE(2.1=100)
C2:
PF043887=Hamartin=PD(5.3=67.9)
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:
AGATGGTGTGCCCTCTACCTC
R:
AAAAGCAACTGGTCTCGGAGG
Band lengths:
136-180
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
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)