HsaINT0173494 @ hg38
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132921819-132923492:-
Coord C1 exon
chr9:132923348-132923492
Coord A exon
chr9:132921974-132923347
Coord C2 exon
chr9:132921819-132921973
Length
1374 bp
Sequences
Splice sites
5' ss Seq
CAGGTACAG
5' ss Score
8.68
3' ss Seq
TCAACGGGTTCCTTTTCTAGGCC
3' ss Score
9.91
Exon sequences
Seq C1 exon
ATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAG
Seq A exon
GTACAGATCTCCTCATATACCTGTTGGGCCCTGTGAGGTGAATGCTTTCATTATTGATTAATTGCTCATATGCTGTAAGGAATGGACATGTAGACTTTTATAGCTGAAATGAGTGGTTTTCACCAGACAGATGAGGGAATATCTTGGGTGCATCCACTACAGGCACATAGAAGAAACATGACTGTTGAGATAACTTTTTTTATTTTCTTGGCTTAAAAGGATTAGTCGTCAGAGAAATTGAGTGGTAGGATGTAAAACTTTATGATTGTTGATAAACTGAAAAACAGCCTCCGTCTGTATTGCAGCAGTACAGGACTAAGCTTGTGGGACATTTCTGTCTTCCTTGGCTGCTCTGTTGTGACAGAACGCAAATGTCAGATTCTGAGAACCCACTCGTTGTACCTGTAGGAGTCAGAGGGAAATGCGGTGTGTCCTGATTAGCACTCCAGCTTCAAATGCAGTGGTTTTTTTTTTTCCCCTATCGGCAGGTAGCAGAGCTCTATCAAAGGGATCAGAAGCTGTAAGCATGTGAAATTTGGAATCTTTGGGTTATCCCAGTGTGAGGTATTTCTATCAAAAGGGTGAAGTATGTCAGACCTGTGAGACAGAACACCGTGCCTTCCTGTATAGGATTAAATTACAAGCATAGGCCCACGTGGTGCCTGCTTGTTTAGTAGGACCTTTGTGAAAAAGGAATGGTCTGTCCATTATTTTGGAGGACCTTTATGTATACTGTGGCCGTGGGTTTCCACAGGGTCTAGGTAAGGCTAAATTAAGATGTTCAATTTCTTTCACTCTTAGTTCTTTAAGCTAATTTCTAGATAATAGTTTTTTTCACTCTGTAGTTATAAATCTGCATAGCTAAGACTACATACTGATTTAAAAGAGTCTCACACATTCATTCTGTAAATATTGAGTGCTTGTTAAATATCAGGTCCAGTGCAAAGCACCGAGAAATAAGTAAGACAGTTTTTTTCTCAAGAAGCTCGTACTGAATTCGGCAATGGAAAAGTATAAATTTTACAGAGAGCTATCATCATAAAGATAGTTCAGTATTGTGAGAATGTTTGGGATCCTTTTTGGGCAGTGGCTGAAGAGGAGGGCAGAAGTTAGATCAGGAAGAGCCTTCATGGATCATACTAGTAGACTGGAATTTATCCAAAACTTATAGGGAGCCATTGATGGATTTGAAATAAGGGTGTCTGGTGTGTTCGGATTTGTTTGCATTTTAGAAAACCACTCTTCCTGTCTTTGGAGTGAGGTGGGAATATACATAGATAAAAAGTCCTGCTGGCAGCCACTTGTTTATAGCTGTTTTGCACTCCTCAATCTGTCTCCAACTAAGAGGCTCTTCTCAACGGGTTCCTTTTCTAG
Seq C2 exon
GCCACGTGGCGGAAGTCTATCTCGTCCATCTCCATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTCTCCTTTTTGCGTTCTCATTACAGTATGAAAGAAAACCTGGAGACTTTTGAAGAAGTGGTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=PD(0.1=0.0),PF043887=Hamartin=FE(8.0=100)
A:
NA
C2:
PF043887=Hamartin=FE(14.9=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:
ATGGACACTGACGTCGTTGTC
R:
CCACTTCTTCAAAAGTCTCCAGGT
Band lengths:
295-1669
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains