HsaEX0067502 @ hg38
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132923348-132927304:-
Coord C1 exon
chr9:132927201-132927304
Coord A exon
chr9:132925587-132925739
Coord C2 exon
chr9:132923348-132923492
Length
153 bp
Sequences
Splice sites
3' ss Seq
TTGTTCTTTTACATTTTCAGCAC
3' ss Score
9.56
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
ACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCACCTTGCAAGAGCCACATGACAAG
Seq A exon
CACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAG
Seq C2 exon
ATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699_MULTIEX2-6/9=5-8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.026 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(48.6=100),PF043887=Hamartin=PU(0.1=0.0)
A:
PF043887=Hamartin=FE(37.6=100)
C2:
PF043887=Hamartin=PD(0.1=0.0),PF043887=Hamartin=FE(8.0=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGTGGCCCTATGCTTGTAAA
R:
TGGTTTCTTCAGGCACCATGA
Band lengths:
247-400
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