HsaINT0173480 @ hg38
Intron Retention
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
chr9:132910693-132911001
Coord C2 exon
chr9:132910571-132910692
Length
309 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
GTATGTATGTCTTAGGTTGGATTTGATTAGTTGGTTTTGGCCTGCCTTTAATGGCAGGAGGAGCTCTCTTTTAGATCTAAGGGACCACTTGCTGTTGTAAACTTGTTTTTGACACTTATTGCAAATCCCTGGGGCTTTCAGAATGTGTAAAGTGAACCTAAAAACAAAAAAGAGAGAGACTGATCTAGATCCCCAGAAAGTTAACTCTAGCAGCTTTATTTATAGTAATAGTTATAGGCTGAAAAAAAATCGGCAGTTTTTCTAATAGTTGGGCTCAGTGTTCATATATGTTCTGCCCTTGTCTCTAAG
Seq C2 exon
CAGGTGGAAAAGGAACTCCTCTGGGAACCCCAGCAACCTCTCCTCCTCCAGCCCCACTCTGTCATTCGGATGACTACGTGCACATTTCACTCCCCCAGGCCACAGTCACACCCCCCAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
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 Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTACTCTTTGGAGCCCATCT
R:
TGTGACTGTGGCCTGGGG
Band lengths:
222-531
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains