HsaINT0173493 @ hg38
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132925587-132927304:-
Coord C1 exon
chr9:132927201-132927304
Coord A exon
chr9:132925740-132927200
Coord C2 exon
chr9:132925587-132925739
Length
1461 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATG
5' ss Score
8.99
3' ss Seq
TTGTTCTTTTACATTTTCAGCAC
3' ss Score
9.56
Exon sequences
Seq C1 exon
ACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCACCTTGCAAGAGCCACATGACAAG
Seq A exon
GTAATGGCTGAAATATCATAGGCATTTCATATGTTCTTCATGAGTACAACAGCTTCTGTGCACGGCCACTGTGCAACTTGTCCTGAGCTTATTCTTTTGATTTCTGTGCGCCACTGATGACATTGTTCCCAGTTTATAACTACATATAAAAATTACTTTGTAGGACCCATGATTCTTGAAAAGTTTACAAAATAAAACATATTTCAGAGACTGTTAAAGATCTTGTTTGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCCTTAGGAGGCCGAGGCGGGTGGATTGCCTGAGGTCACGAGTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGACACCTATAATCTCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGACCTGAGATTGCACCATTGCACTCCAGGGCAACAAGAGTGAAACTGTCTCAAAAAAAAAAAAGATCTTGTTTAAAGAAATCTTACATTTCCAGTACTATAATTGTATAGTGATGATTTGGCCCATAGGTACCCATCTTTCAACCCATACTTTGAATAGAATTTTTAGACTTTTATCGATATGGAAAAGCTTCAAGTACAAAGGACTAACATGACAAATTAATGAGTCTTGTTTCCTAGCACCCGGCACTTGGAGGGCTCCTTCATGTTTTCCTTTTGTTTTTAGTAAGTAGCTAATAAAGCATTGTTATTGCAGACTTTGGTAAGTCTTAAGTGTATATATGAGAGCAACTTCCCCAGGATTTGAAGACCTTGTATTGCATGCCTTTTACAGTACATCTTGTTTTGTTTTGTTTTCTAAAGAGGTGAGGTCTCATTGTGTTCCCTAGACTGGAGCGTGGTGGCACAATCATAGCTCACTGTAACCTTGAACTCCTGGCCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCAGGGATTGCCGGCATGAGCCACTGCGCCTGGCCCGTCTTGTTTTTTTGTTTACTCTGGTCTGAAATGTAACTTCTACTACCTAATTGATACTTGAGGCCAAACCATGTAGGCTGGGTTGCTCTAGCAATAAGTGGCTGCTTCCAGCAGGATCCCCTCATGGCTTCAGTAACCTATCACAGTTTGGGACTGTTGGTTATTGAGGGGCTGTGAACAAGTCTCCCCCTTTCTGCATGCGTGTATTGTAGGGTCCTTTTTCATGAGCTGCAAACTGGCTGCCTTTTGTCAGGCCAAATGCAGCAGTGTTTTGTTTGCTAACGTGGTTTTTAAAATCTTGAATTTGACCTTTTATCTGCATGACCCTTGCTTTACATTAGAGACAAGACTTGAGAGATTGGAGCACATCATTGCTGTCTTTATTTGTGTTAACTTCATACATTCATGTGAGGACTGCCCTTGTTCTTTTACATTTTCAG
Seq C2 exon
CACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.026 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(48.6=100),PF043887=Hamartin=PU(0.1=0.0)
A:
NA
C2:
PF043887=Hamartin=FE(37.6=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:
CCGTGGCCCTATGCTTGTAAA
R:
CTTGAGACATTTTAGTAAAGAAGGCA
Band lengths:
256-1717
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains