HsaINT0173490 @ hg38
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132897184-132897610:-
Coord C1 exon
chr9:132897423-132897610
Coord A exon
chr9:132897346-132897422
Coord C2 exon
chr9:132897184-132897345
Length
77 bp
Sequences
Splice sites
5' ss Seq
AAGGTAACT
5' ss Score
9.01
3' ss Seq
GGCTGGTCTGTATCTTTCAGAGG
3' ss Score
7.66
Exon sequences
Seq C1 exon
GAAGTAGAAATGATGAAAGCCGCCTATCGGAAAGAGCTAGAAAAAAACAGAAGCCATGTTCTCCAGCAGACTCAGAGGCTTGATACCTCCCAAAAACGGATTTTGGAACTGGAATCTCACCTGGCCAAGAAAGACCACCTTCTTTTGGAACAGAAGAAATATCTAGAGGATGTCAAACTCCAGGCAAG
Seq A exon
GTAACTTTCATCAGGAAAGGCTTTTGTGTTTTTATTAAGTGGAACTTCCTATATTCTGGCTGGTCTGTATCTTTCAG
Seq C2 exon
AGGACAGCTGCAGGCCGCAGAGAGCAGGTATGAGGCTCAGAAAAGGATAACCCAGGTGTTTGAATTGGAGATCTTAGATTTATATGGCAGGTTGGAGAAAGATGGCCTCCTGAAAAAACTTGAAGAAGAAAAAGCAGAAGCAGCTGAAGCAGCAGAAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:21
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.222 A=NA C2=0.382
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
CTCACCTGGCCAAGAAAGACC
R:
GGAGGCCATCTTTCTCCAACC
Band lengths:
183-260
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains