HsaEX0067497 @ hg38
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132910571-132911568:-
Coord C1 exon
chr9:132911453-132911568
Coord A exon
chr9:132911002-132911113
Coord C2 exon
chr9:132910571-132910692
Length
112 bp
Sequences
Splice sites
3' ss Seq
GTACTTTATTAACTTCCCAGGCT
3' ss Score
5.43
5' ss Seq
CTGGTATGT
5' ss Score
8.14
Exon sequences
Seq C1 exon
GGTGTGCTACTTCTACCCCTTACTCCACGTCTCGGCTGATGTTGTTAAATATGCCAGGGCAGCTACCTCAGACTCTGAGTTCCCCATCGACACGGCTGATAACTGAACCACCACAA
Seq A exon
GCTACTCTTTGGAGCCCATCTATGGTTTGTGGTATGACCACTCCTCCAACTTCTCCTGGAAATGTCCCACCTGATCTGTCACACCCTTACAGTAAAGTCTTTGGTACAACTG
Seq C2 exon
CAGGTGGAAAAGGAACTCCTCTGGGAACCCCAGCAACCTCTCCTCCTCCAGCCCCACTCTGTCATTCGGATGACTACGTGCACATTTCACTCCCCCAGGCCACAGTCACACCCCCCAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699_MULTIEX3-1/2=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=0.682 A=0.895 C2=1.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(5.3=100)
A:
PF043887=Hamartin=FE(5.2=100)
C2:
PF043887=Hamartin=FE(5.6=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:
GGTGTGCTACTTCTACCCCTT
R:
TGTGACTGTGGCCTGGGG
Band lengths:
226-338
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development