HsaEX1042159 @ hg38
Exon Skipping
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132928767-132935095:-
Coord C1 exon
chr9:132935033-132935095
Coord A exon
chr9:132931209-132931427
Coord C2 exon
chr9:132928767-132928952
Length
219 bp
Sequences
Splice sites
3' ss Seq
GTGTTTCTAATGTGTTTTAGAAT
3' ss Score
10.3
5' ss Seq
TAGGTAAGT
5' ss Score
9.66
Exon sequences
Seq C1 exon
TGACCATGAAAGACACCAGGTTGACAGCACTGGAAACTGAAGTACCAGTTGTCGCTAGAACAG
Seq A exon
AATAAAACCTTACTTTGCAAATGGAAAAACAAGCTAGGTGGCCCAAGCTGATTAGCCCACACTATCGCCAAGTTGACTGGATGGGCGCCATCTTTGTTTAAAATTGAGCTCATGTCACTCCGGGCTCTGGGGCTGCCTGCATTTGGAGGACCAGATATGACATTATCGTCTTCTGACTACACAGAAGGCAAACTCAGAGTCTCCCTAGACAAATAGTAG
Seq C2 exon
TTTGGTAGTGGCCCCAATGAAGAACCTTCAGAACCTGTAGCACACGTCCTGGAGCCAGCACAGCGCCTTCGAGCGAGAGAATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGTGTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACCTCAATTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699_MULTIEX2-3/9=C1-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
PF043887=Hamartin=PU(25.6=94.4)
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACCATGAAAGACACCAGGT
R:
TTGAGGTTCTCTTTAAAGACAGCTGT
Band lengths:
244-463
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains