HsaEX0067494 @ hg19
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Coordinates
chr9:135780968-135782757:-
Coord C1 exon
chr9:135782688-135782757
Coord A exon
chr9:135782118-135782222
Coord C2 exon
chr9:135780968-135781526
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTGTCTTTGTTTCTCTTCAGAAG
3' ss Score
10.22
5' ss Seq
AAGGTAATG
5' ss Score
8.99
Exon sequences
Seq C1 exon
GAAGAGAGAATGGATTCTGCAAGACCATGTCTACACAGACAACACCATCTTCTGAATGACAGAGGATCAG
Seq A exon
AAGAGCCACCTGGCAGCAAAGGTTCTGTCACTCTAAGTGATCTTCCAGGGTTTTTAGGTGATCTGGCCTCTGAAGAAGATAGTATTGAAAAAGATAAAGAAGAAG
Seq C2 exon
CTGCAATATCTAGAGAACTTTCTGAGATCACCACAGCAGAGGCAGAGCCTGTGGTTCCTCGAGGAGGCTTTGACTCTCCCTTTTACCGAGACAGTCTCCCAGGTTCTCAGCGGAAGACCCACTCGGCAGCCTCCAGTTCTCAGGGCGCCAGCGTGAACCCTGAGCCTTTACACTCCTCCCTGGACAAGCTTGGGCCTGACACACCAAAGCAAGCCTTTACTCCCATAGACCTGCCCTGCGGCAGTGCTGATGAAAGCCCTGCGGGAGACAGGGAATGCCAGACTTCTTTGGAGACCAGTATCTTCACTCCCAGTCCTTGTAAAATTCCACCTCCGACGAGAGTGGGCTTTGGAAGCGGGCAGCCTCCCCCGTATGATCATCTTTTTGAGGTGGCATTGCCAAAGACAGCCCATCATTTTGTCATCAGGAAGACTGAGGAGCTGTTAAAGAAAGCAAAAGGAAACACAGAGGAAGATGGTGTGCCCTCTACCTCCCCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699-'21-24,'21-23,22-24
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=0.882
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(3.2=100)
A:
PF043887=Hamartin=FE(4.9=100)
C2:
PF043887=Hamartin=FE(25.9=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:
TGGATTCTGCAAGACCATGTCT
R:
TCCAGGGAGGAGTGTAAAGGC
Band lengths:
244-349
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)