HsaINT0173498 @ hg19
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Coordinates
chr9:135786389-135786955:-
Coord C1 exon
chr9:135786840-135786955
Coord A exon
chr9:135786501-135786839
Coord C2 exon
chr9:135786389-135786500
Length
339 bp
Sequences
Splice sites
5' ss Seq
CAAGTATGG
5' ss Score
4.99
3' ss Seq
GTACTTTATTAACTTCCCAGGCT
3' ss Score
5.43
Exon sequences
Seq C1 exon
GGTGTGCTACTTCTACCCCTTACTCCACGTCTCGGCTGATGTTGTTAAATATGCCAGGGCAGCTACCTCAGACTCTGAGTTCCCCATCGACACGGCTGATAACTGAACCACCACAA
Seq A exon
GTATGGTGTCAACTAGTGTGCCTGCTCTCTCCTCTGCTTTCTGGTGAAGCTGACCCTTTGGGTCAGATTTAGTATGTGGTTGGGAAAATTTCACACTGCTCATTTCAGGAGTCACTTTTAAGGATCCATGATATTAGCAAAGAAAGTTACTGTTGCCTCTTAGATTCATCTTGAAGTCTTGATTTACAAAATGCAACTTGTTTCTTGATACGCTTTTAATAAGATGCCTTTTTCTAGATGAAAAAGCTAAATTTAAGCTGAACACTGGCCATGGATATAAACCTCGTGGATGACTTAGCATTCCTTTGCCACTGCTGATGTACTTTATTAACTTCCCAG
Seq C2 exon
GCTACTCTTTGGAGCCCATCTATGGTTTGTGGTATGACCACTCCTCCAACTTCTCCTGGAAATGTCCCACCTGATCTGTCACACCCTTACAGTAAAGTCTTTGGTACAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699-TSC1:NM_001162427:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.542 A=NA C2=0.895
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(5.3=100)
A:
NA
C2:
PF043887=Hamartin=FE(5.2=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGTGCTACTTCTACCCCTT
R:
TACCAAAGACTTTACTGTAAGGGTGT
Band lengths:
222-561
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)