HsaEX0067499 @ hg38
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132903651-132906139:-
Coord C1 exon
chr9:132905581-132906139
Coord A exon
chr9:132904411-132904454
Coord C2 exon
chr9:132903651-132903817
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_MULTIEX1-2/3=C1-3
Average complexity
ME(1-2[100=98])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.888 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:
ENST00000298552fB28907
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