HsaEX0067501 @ hg38
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132925587-132928952:-
Coord C1 exon
chr9:132928767-132928952
Coord A exon
chr9:132927201-132927304
Coord C2 exon
chr9:132925587-132925739
Length
104 bp
Sequences
Splice sites
3' ss Seq
TTGCCCTTTTCTTGATTTAGACC
3' ss Score
8.88
5' ss Seq
AAGGTAATG
5' ss Score
8.99
Exon sequences
Seq C1 exon
TTTGGTAGTGGCCCCAATGAAGAACCTTCAGAACCTGTAGCACACGTCCTGGAGCCAGCACAGCGCCTTCGAGCGAGAGAATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACCTCAATTCTG
Seq A exon
ACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCACCTTGCAAGAGCCACATGACAAG
Seq C2 exon
CACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699_MULTIEX2-5/9=4-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.026 C2=0.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=PU(25.6=94.4)
A:
PF043887=Hamartin=FE(48.6=100),PF043887=Hamartin=PU(0.1=0.0)
C2:
PF043887=Hamartin=FE(37.6=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:
TGGTAGTGGCCCCAATGAAGA
R:
GGATGGATAAACGAGTGGCGG
Band lengths:
242-346
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