HsaINT0173478 @ hg19
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Coordinates
chr9:135798735-135801126:-
Coord C1 exon
chr9:135800974-135801126
Coord A exon
chr9:135798880-135800973
Coord C2 exon
chr9:135798735-135798879
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-TSC1:NM_001162426:5
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
No protein impact description available
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(14.6=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
Rat
(rn6)
No conservation detected
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]
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)