HsaEX0067498 @ hg38
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132912282-132921973:-
Coord C1 exon
chr9:132921819-132921973
Coord A exon
chr9:132921363-132921436
Coord C2 exon
chr9:132912282-132912457
Length
74 bp
Sequences
Splice sites
3' ss Seq
TGTCAACCCAACTCTTCTAGCCA
3' ss Score
3.96
5' ss Seq
AAGGTATAG
5' ss Score
7.98
Exon sequences
Seq C1 exon
GCCACGTGGCGGAAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAAGAAAACCTGGAGACTTTTGAAGAAGTGGTCAAG
Seq A exon
CCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCATGAACTGGACCCTCGAAG
Seq C2 exon
GTGGAAGAGATTAGAAACTCATGATGTTGTGATCGAGTGTGCCAAAATCTCTCTGGATCCCACAGAAGCCTCATATGAAGATGGCTATTCTGTGTCTCACCAAATCTCAGCCCGCTTTCCTCATCGTTCAGCCGATGTCACCACCAGCCCTTATGCTGACACACAGAATAGCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699_CASSETTE2
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=0.120 C2=0.265
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(14.9=100)
A:
PF043887=Hamartin=FE(3.3=100)
C2:
PF043887=Hamartin=FE(17.2=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:
ACGCACTCTTTCATCGCCTTT
R:
GAGGCTTCTGTGGGATCCAGA
Band lengths:
182-256
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