HsaINT0173487 @ hg19
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Coordinates
chr9:135776102-135777086:-
Coord C1 exon
chr9:135776976-135777086
Coord A exon
chr9:135776225-135776975
Coord C2 exon
chr9:135776102-135776224
Length
751 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
TGCTCATGTTTTTTGGTTAGCTC
3' ss Score
5.09
Exon sequences
Seq C1 exon
ACGAAGCTGGAGGACTGCAGGAACATGATTGCGGAGCTGCGGATAGAACTGAAGAAGGCCAACAACAAGGTGTGTCACACTGAGCTGCTGCTCAGTCAGGTTTCCCAAAAG
Seq A exon
GTAAGAAGAAATGAGGCAGACCTGAATCTGCTGAAACACCATTTGCTAACATTCTTCCTTCAGACAGGTTAAAGAAATAGATTACTTGAGTGTCTGTGTCATGGGTTCCCAACAGGAAGTGGTTCTGCTGCCCCCATAGTCCCTGACATTTGGCAATGTCTGGAGACATTTTAGGTTCATGTTTTTGGTGCTGCTGGTATCCAGTGGGTAGGAGCCAGGGTGCTGCCAAATATCCTACAATGCACAGGCAGCCCCCTGCAACAAAGAAGTATCCATCCTAAACCCTGCTCTATGTGTATCCCATGGAACTCTTTCTTCATACCTTGTTTACATAAATGTCAAAAGTTTGTTCAGGTTTTTGAGCGTGATTCCTCCTTCTTTGGGAATCACTGCACTTCATACATCATTTTGTCAAGAACGGTGAGTTTTCCCTAGGGCTTTATGCCACTGGGCCTTGGTGGTATACCTGTCCACCTTCTCCAGGTGTTCTGTGGGTGGTCAGTTTGATGGACTGCATTTGTGCTGTCCCCTTTGCAAAGCACAGTTCTGAAGTGTGTTTCTGTCTATTTTTGTTGTCCTTGGGTACCATCCTCCCCACCTGCCATTATGTCAGGGACTGTGAACCCATGGGACTGGTTTATTTTGCCTTAACATTGAAATAGTGTGCTCCTAGCTGATTCCCTGTTTAATGACGTCTATGTGCTAGTTTTATGTCGTCGGATTTTTCACTTTGCTCATGTTTTTTGGTTAG
Seq C2 exon
CTCTCAAACAGTGAGTCGGTCCAGCAGCAGATGGAGTTCTTGAACAGGCAGCTGTTGGTTCTTGGGGAGGTCAACGAGCTCTATTTGGAACAACTGCAGAACAAGCACTCAGATACCACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699-TSC1:NM_001162427:18
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.146
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:
ACGAAGCTGGAGGACTGCA
R:
TGTGGTATCTGAGTGCTTGTTCTG
Band lengths:
231-982
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)