HsaINT1045410 @ hg38
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:HGNC:12362]
Coordinates
chr9:132923348-132925739:-
Coord C1 exon
chr9:132925587-132925739
Coord A exon
chr9:132923493-132925586
Coord C2 exon
chr9:132923348-132923492
Length
2094 bp
Sequences
Splice sites
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
3' ss Seq
TTTGACCTTTTCTCCTGCAGATG
3' ss Score
13.04
Exon sequences
Seq C1 exon
CACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAG
Seq A exon
GTAGGATGTTTGTAAGGATTTGAATGAAATGGTTTTATGAGTATAGTTTCTGAAATTTTAGGCAACTTAAAGCAAGGAAGCTAGATTTTAACTTTTAGAGTTTAAAACCTTCTAGGCATTTGGCTTTTCTCAAATAGAATGTTGTCCAGAGTTGGTACTTAGTAAGTTCTCAAATACATCACTATGACTATTGAATACCTTGTCCATGCAAGTATGGAAAAATTTCGATCAGATGGGTTCAATGTTACATTATTCCAAACCTCTTGATTTCGTCATCGTTTAGCCTTCCCTCATTTAAAAACATCCTGGATTATCTTTTGGGAATCCCTGTTTCTAAATTATCTTTTAGCTAATAGAAAAATGGCTTAAAGTTTCTGTTAACCATTTAGGAGTATGGTCTGGTTGCAGCTATAATTAAGACTTTGTTGATGTAAATTCTACTAAGTTGCATTCTATTTTTTGCACTAAATTTAGTGCATTTTTCTATATAGGGAGTCAAAATCTAAATAGAACTTTATGGTTTTAGTTTTAACAGTGGCGTGCAGCCATACTCAGGGTTATTTGTTTAATCTGTTTTAGTTCCTGGACTTGTTTTCTATCTATAAAATAAGAAAATGTGGTTAATATTAACTGCCTGTACCTCACAGAGACATGAAAATATCCAATAGTATTTGTTCCAGGATGGCAGTACCATTGGATTCATCTGCTACAGCACCATGCAAATTGATTTTTGTGTCTGCCAAGAAGGGTAACTCTTTTATTATCCCTAGAGGTGGGTCCCAAGGAGTCACATTGGCAGGGTATTATAAAAACATGCATTTAATTCAGAAAAAATAGGAACAGTTTTAACAACTTAATGTTTTTTAAACAAATGGATTGATGAGAATATAATCTAATTAATGGATTGGTGAGAATATAATCTAAATGGATTGATGAGAATATAATCTAAATGGATTGGTGAGAATATAATCTAAATGGATTGATGAGAATATAATCTAATTTTGAGGCACATCATTTAGTTCAGATTGCAAAACACTTATCTTTTCCAAAAGAGTACGTTTTGTTAATCATGGATAAGTCTTCAGTTAGACTGTTAGGAAAATGAAATCAGGGCTAGTTCTTTCTGCTGAGAATCATTATATAGTCTCATATATTCTCAATTCTCCTACCAATATATTATTCTTACTGGATATCTTCCGTAATGAAAGGCTTGATGCTTGATGTAAAAATCAAAATATATTTAAAACTTTATTCCCAGACTCATAGATTCCTATTCTAATAGGAATAATGGATGTCTTAACCTACATAGTAGTCTTTTGATTAATATCTTGTTTCATAAATCTGAATTTCATCTACCTGGCAAACATTCATGATTTAATTATGGGTCAGGTGAGCTGCTGTAGCTAGCTAGTCAGAGCTGATTGAGTATCCATTGGGTGTTAAGTGTCTTCAGTTAGCCTGAAGTTATTTATTTGACTTAATATTTAAACTGTAGGCGTGCTGAAAGGTTTCCATATATATATATTTTAATTTACTGGTCTCTAAATACTGCTTTGAAGTGAGCCTTTAAGTTGACTTGTTAGTGCTATATGAATTTCTCCTTCAATTATACTTCTGTTGTAGTTCTTTAAAAAATAGTAAGTTACTTGTCAATGTGCAGTTTTTTTTTTTTTTAATTAACAAAAAGTAAGTATCTTAGGATTTGGTTGAATGAATGAAACAGAGCAGTGCTCCTGTGTTTTGTTGAAAAGCAGCTCCTTTTGTTTTCATCCAACTGCTATCAATAGGGCATCCTAAGGCTGCAGGACTTGGGTGTCCCCAAGTCAAGTTTGAACTCGTCTCCCGGATGCCTTTGCATAGGTGTGTTGTAAATGGTCCTCACTGACTCATTACAGTAGAGTTGGGGCTCAGTGTTCTGTTGAGTCTGTTTGAATGTTATCCCTTCAGTAATCCTTAGGGATAGGGAAATGAGTACGTGAGTCAACTTGTGATTTGTGATTCTCTCAGTGTTTAGAGCCTCTTCATGTACTGTACAATGCCGATCCTGGTGCCAGTGCCTGACAGACGTTTCCTGTTTGACCTTTTCTCCTGCAG
Seq C2 exon
ATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699:ENST00000298552:5
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=FE(37.6=100)
A:
NA
C2:
PF043887=Hamartin=PD(0.1=0.0),PF043887=Hamartin=FE(8.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains