HsaEX6063690 @ hg19
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Coordinates
chr9:135782688-135786500:-
Coord C1 exon
chr9:135786389-135786500
Coord A exon
chr9:135785958-135786079
Coord C2 exon
chr9:135782688-135782757
Length
122 bp
Sequences
Splice sites
3' ss Seq
GTTCTGCCCTTGTCTCTAAGCAG
3' ss Score
3.61
5' ss Seq
AAGGTGCGA
5' ss Score
7.16
Exon sequences
Seq C1 exon
GCTACTCTTTGGAGCCCATCTATGGTTTGTGGTATGACCACTCCTCCAACTTCTCCTGGAAATGTCCCACCTGATCTGTCACACCCTTACAGTAAAGTCTTTGGTACAACTG
Seq A exon
CAGGTGGAAAAGGAACTCCTCTGGGAACCCCAGCAACCTCTCCTCCTCCAGCCCCACTCTGTCATTCGGATGACTACGTGCACATTTCACTCCCCCAGGCCACAGTCACACCCCCCAGGAAG
Seq C2 exon
GAAGAGAGAATGGATTCTGCAAGACCATGTCTACACAGACAACACCATCTTCTGAATGACAGAGGATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699-'17-22,'17-20,19-22=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.895 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(5.2=100)
A:
PF043887=Hamartin=FE(5.6=100)
C2:
PF043887=Hamartin=FE(3.2=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:
GCTACTCTTTGGAGCCCATCT
R:
TCATTCAGAAGATGGTGTTGTCTGT
Band lengths:
171-293
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)