HsaINT0173482 @ hg38
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132905581-132906835:-
Coord C1 exon
chr9:132906731-132906835
Coord A exon
chr9:132906140-132906730
Coord C2 exon
chr9:132905581-132906139
Length
591 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATG
5' ss Score
8.99
3' ss Seq
GTTTCCTCTCTTCCTCTCAGCTG
3' ss Score
9.4
Exon sequences
Seq C1 exon
AAGAGCCACCTGGCAGCAAAGGTTCTGTCACTCTAAGTGATCTTCCAGGGTTTTTAGGTGATCTGGCCTCTGAAGAAGATAGTATTGAAAAAGATAAAGAAGAAG
Seq A exon
GTAATGTATGTGGGATTGCTATGAGTTGATAAAACCTGACCCTCGCTCTGCTATAAATCTGGGATTTTGTGCCATTGCTCACAGGCTTGCTGGATTTTTCTTCTCTTGAGGTAACAAGATGGGTGGTTTAGTCTGGGACCTATGCCAGGTAAAGTGATGCCACTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCACCCTGGCTGGAGTGCAGTGGTACGATCATGGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCAATCCGCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCATACACCACGATGCTCAGCTGATTTTTATTGTATTTTTTGTAGAGATGGGATCTCCCTATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAAGTTCTGGCATTACAGGCGTGAGCCACTGTGTCCAGCCGGATGCCACTTTTTCTCCTCTCTCTGAGTGACACTGGCATGTGGCAGCATGCCACCCAAACTGCCTAGTCTTTCCCAGGTGGAATACCGACTGCCATTTCTTTTGTTTCCTCTCTTCCTCTCAG
Seq C2 exon
CTGCAATATCTAGAGAACTTTCTGAGATCACCACAGCAGAGGCAGAGCCTGTGGTTCCTCGAGGAGGCTTTGACTCTCCCTTTTACCGAGACAGTCTCCCAGGTTCTCAGCGGAAGACCCACTCGGCAGCCTCCAGTTCTCAGGGCGCCAGCGTGAACCCTGAGCCTTTACACTCCTCCCTGGACAAGCTTGGGCCTGACACACCAAAGCAAGCCTTTACTCCCATAGACCTGCCCTGCGGCAGTGCTGATGAAAGCCCTGCGGGAGACAGGGAATGCCAGACTTCTTTGGAGACCAGTATCTTCACTCCCAGTCCTTGTAAAATTCCACCTCCGACGAGAGTGGGCTTTGGAAGCGGGCAGCCTCCCCCGTATGATCATCTTTTTGAGGTGGCATTGCCAAAGACAGCCCATCATTTTGTCATCAGGAAGACTGAGGAGCTGTTAAAGAAAGCAAAAGGAAACACAGAGGAAGATGGTGTGCCCTCTACCTCCCCAATGGAAGTGCTGGACAGACTGATACAGCAGGGAGCAGACGCGCACAGCAAGGAGCTGAACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.888
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(4.9=100)
A:
NA
C2:
PF043887=Hamartin=FE(25.9=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:
CTGGCAGCAAAGGTTCTGTCA
R:
CTTTCATCAGCACTGCCGCAG
Band lengths:
352-943
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains