HsaALTA0009047-2/2 @ hg38
Alternative 3'ss
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132910571-132911113:-
Coord C1 exon
chr9:132911002-132911113
Coord A exon
chr9:132910690-132910692
Coord C2 exon
chr9:132910571-132910689
Length
3 bp
Sequences
Splice sites
5' ss Seq
CTGGTATGT
5' ss Score
8.14
3' ss Seq
GTTCTGCCCTTGTCTCTAAGCAG
3' ss Score
3.61
Exon sequences
Seq C1 exon
GCTACTCTTTGGAGCCCATCTATGGTTTGTGGTATGACCACTCCTCCAACTTCTCCTGGAAATGTCCCACCTGATCTGTCACACCCTTACAGTAAAGTCTTTGGTACAACTG
Seq A exon
CAG
Seq C2 exon
GTGGAAAAGGAACTCCTCTGGGAACCCCAGCAACCTCTCCTCCTCCAGCCCCACTCTGTCATTCGGATGACTACGTGCACATTTCACTCCCCCAGGCCACAGTCACACCCCCCAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699-30-31,30-30-2/2
Average complexity
Alt3
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.895 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(5.2=100)
A:
NA
C2:
PF043887=Hamartin=FE(5.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTGGAAATGTCCCACCTGA
R:
CTGGAGGAGGAGAGGTTGCTG
Band lengths:
107-110
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Autistic and control brains
- Pre-implantation embryo development