HsaINT0173498 @ hg38
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132911002-132911568:-
Coord C1 exon
chr9:132911453-132911568
Coord A exon
chr9:132911114-132911452
Coord C2 exon
chr9:132911002-132911113
Length
339 bp
Sequences
Splice sites
5' ss Seq
CAAGTATGG
5' ss Score
4.99
3' ss Seq
GTACTTTATTAACTTCCCAGGCT
3' ss Score
5.43
Exon sequences
Seq C1 exon
GGTGTGCTACTTCTACCCCTTACTCCACGTCTCGGCTGATGTTGTTAAATATGCCAGGGCAGCTACCTCAGACTCTGAGTTCCCCATCGACACGGCTGATAACTGAACCACCACAA
Seq A exon
GTATGGTGTCAACTAGTGTGCCTGCTCTCTCCTCTGCTTTCTGGTGAAGCTGACCCTTTGGGTCAGATTTAGTATGTGGTTGGGAAAATTTCACACTGCTCATTTCAGGAGTCACTTTTAAGGATCCATGATATTAGCAAAGAAAGTTACTGTTGCCTCTTAGATTCATCTTGAAGTCTTGATTTACAAAATGCAACTTGTTTCTTGATACGCTTTTAATAAGATGCCTTTTTCTAGATGAAAAAGCTAAATTTAAGCTGAACACTGGCCATGGATATAAACCTCGTGGATGACTTAGCATTCCTTTGCCACTGCTGATGTACTTTATTAACTTCCCAG
Seq C2 exon
GCTACTCTTTGGAGCCCATCTATGGTTTGTGGTATGACCACTCCTCCAACTTCTCCTGGAAATGTCCCACCTGATCTGTCACACCCTTACAGTAAAGTCTTTGGTACAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.682 A=NA C2=0.895
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(5.3=100)
A:
NA
C2:
PF043887=Hamartin=FE(5.2=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGTGCTACTTCTACCCCTT
R:
TACCAAAGACTTTACTGTAAGGGTGT
Band lengths:
222-561
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains