HsaEX0067494 @ hg38
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132905581-132907370:-
Coord C1 exon
chr9:132907301-132907370
Coord A exon
chr9:132906731-132906832
Coord C2 exon
chr9:132905581-132906139
Length
102 bp
Sequences
Splice sites
3' ss Seq
TCTTTGTTTCTCTTCAGAAGAGC
3' ss Score
2.67
5' ss Seq
AAGGTAATG
5' ss Score
8.99
Exon sequences
Seq C1 exon
GAAGAGAGAATGGATTCTGCAAGACCATGTCTACACAGACAACACCATCTTCTGAATGACAGAGGATCAG
Seq A exon
AGCCACCTGGCAGCAAAGGTTCTGTCACTCTAAGTGATCTTCCAGGGTTTTTAGGTGATCTGGCCTCTGAAGAAGATAGTATTGAAAAAGATAAAGAAGAAG
Seq C2 exon
CTGCAATATCTAGAGAACTTTCTGAGATCACCACAGCAGAGGCAGAGCCTGTGGTTCCTCGAGGAGGCTTTGACTCTCCCTTTTACCGAGACAGTCTCCCAGGTTCTCAGCGGAAGACCCACTCGGCAGCCTCCAGTTCTCAGGGCGCCAGCGTGAACCCTGAGCCTTTACACTCCTCCCTGGACAAGCTTGGGCCTGACACACCAAAGCAAGCCTTTACTCCCATAGACCTGCCCTGCGGCAGTGCTGATGAAAGCCCTGCGGGAGACAGGGAATGCCAGACTTCTTTGGAGACCAGTATCTTCACTCCCAGTCCTTGTAAAATTCCACCTCCGACGAGAGTGGGCTTTGGAAGCGGGCAGCCTCCCCCGTATGATCATCTTTTTGAGGTGGCATTGCCAAAGACAGCCCATCATTTTGTCATCAGGAAGACTGAGGAGCTGTTAAAGAAAGCAAAAGGAAACACAGAGGAAGATGGTGTGCCCTCTACCTCCCCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699-'36-38,'36-37,37-38
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=0.888
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
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGATTCTGCAAGACCATGTCT
R:
TCCAGGGAGGAGTGTAAAGGC
Band lengths:
244-346
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