HsaINT0173493 @ hg19
Intron Retention
Gene
ENSG00000165699 | TSC1
Description
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Coordinates
chr9:135798735-135802691:-
Coord C1 exon
chr9:135802588-135802691
Coord A exon
chr9:135798880-135802587
Coord C2 exon
chr9:135798735-135798879
Length
3708 bp
Sequences
Splice sites
5' ss Seq
AAGGTAATG
5' ss Score
8.99
3' ss Seq
TTTGACCTTTTCTCCTGCAGATG
3' ss Score
13.04
Exon sequences
Seq C1 exon
ACCGTGGCCCTATGCTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATCCTGACCACCTTGCAAGAGCCACATGACAAG
Seq A exon
GTAATGGCTGAAATATCATAGGCATTTCATATGTTCTTCATGAGTACAACAGCTTCTGTGCACGGCCACTGTGCAACTTGTCCTGAGCTTATTCTTTTGATTTCTGTGCGCCACTGATGACATTGTTCCCAGTTTATAACTACATATAAAAATTACTTTGTAGGACCCATGATTCTTGAAAAGTTTACAAAATAAAACATATTTCAGAGACTGTTAAAGATCTTGTTTGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCCTTAGGAGGCCGAGGCGGGTGGATTGCCTGAGGTCACGAGTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGACACCTATAATCTCAGCTACTCAGGAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGACCTGAGATTGCACCATTGCACTCCAGGGCAACAAGAGTGAAACTGTCTCAAAAAAAAAAAAGATCTTGTTTAAAGAAATCTTACATTTCCAGTACTATAATTGTATAGTGATGATTTGGCCCATAGGTACCCATCTTTCAACCCATACTTTGAATAGAATTTTTAGACTTTTATCGATATGGAAAAGCTTCAAGTACAAAGGACTAACATGACAAATTAATGAGTCTTGTTTCCTAGCACCCGGCACTTGGAGGGCTCCTTCATGTTTTCCTTTTGTTTTTAGTAAGTAGCTAATAAAGCATTGTTATTGCAGACTTTGGTAAGTCTTAAGTGTATATATGAGAGCAACTTCCCCAGGATTTGAAGACCTTGTATTGCATGCCTTTTACAGTACATCTTGTTTTGTTTTGTTTTCTAAAGAGGTGAGGTCTCATTGTGTTCCCTAGACTGGAGCGTGGTGGCACAATCATAGCTCACTGTAACCTTGAACTCCTGGCCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAAGTGCAGGGATTGCCGGCATGAGCCACTGCGCCTGGCCCGTCTTGTTTTTTTGTTTACTCTGGTCTGAAATGTAACTTCTACTACCTAATTGATACTTGAGGCCAAACCATGTAGGCTGGGTTGCTCTAGCAATAAGTGGCTGCTTCCAGCAGGATCCCCTCATGGCTTCAGTAACCTATCACAGTTTGGGACTGTTGGTTATTGAGGGGCTGTGAACAAGTCTCCCCCTTTCTGCATGCGTGTATTGTAGGGTCCTTTTTCATGAGCTGCAAACTGGCTGCCTTTTGTCAGGCCAAATGCAGCAGTGTTTTGTTTGCTAACGTGGTTTTTAAAATCTTGAATTTGACCTTTTATCTGCATGACCCTTGCTTTACATTAGAGACAAGACTTGAGAGATTGGAGCACATCATTGCTGTCTTTATTTGTGTTAACTTCATACATTCATGTGAGGACTGCCCTTGTTCTTTTACATTTTCAGCACCTCTTGGACAGGATTAACGAATATGTGGGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTACTGGGTCATGTCATAAGACTGCAGCCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTCAAGGTAGGATGTTTGTAAGGATTTGAATGAAATGGTTTTATGAGTATAGTTTCTGAAATTTTAGGCAACTTAAAGCAAGGAAGCTAGATTTTAACTTTTAGAGTTTAAAACCTTCTAGGCATTTGGCTTTTCTCAAATAGAATGTTGTCCAGAGTTGGTACTTAGTAAGTTCTCAAATACATCACTATGACTATTGAATACCTTGTCCATGCAAGTATGGAAAAATTTCGATCAGATGGGTTCAATGTTACATTATTCCAAACCTCTTGATTTCGTCATCGTTTAGCCTTCCCTCATTTAAAAACATCCTGGATTATCTTTTGGGAATCCCTGTTTCTAAATTATCTTTTAGCTAATAGAAAAATGGCTTAAAGTTTCTGTTAACCATTTAGGAGTATGGTCTGGTTGCAGCTATAATTAAGACTTTGTTGATGTAAATTCTACTAAGTTGCATTCTATTTTTTGCACTAAATTTAGTGCATTTTTCTATATAGGGAGTCAAAATCTAAATAGAACTTTATGGTTTTAGTTTTAACAGTGGCGTGCAGCCATACTCAGGGTTATTTGTTTAATCTGTTTTAGTTCCTGGACTTGTTTTCTATCTATAAAATAAGAAAATGTGGTTAATATTAACTGCCTGTACCTCACAGAGACATGAAAATATCCAATAGTATTTGTTCCAGGATGGCAGTACCATTGGATTCATCTGCTACAGCACCATGCAAATTGATTTTTGTGTCTGCCAAGAAGGGTAACTCTTTTATTATCCCTAGAGGTGGGTCCCAAGGAGTCACATTGGCAGGGTATTATAAAAACATGCATTTAATTCAGAAAAAATAGGAACAGTTTTAACAACTTAATGTTTTTTAAACAAATGGATTGATGAGAATATAATCTAATTAATGGATTGGTGAGAATATAATCTAAATGGATTGATGAGAATATAATCTAAATGGATTGGTGAGAATATAATCTAAATGGATTGATGAGAATATAATCTAATTTTGAGGCACATCATTTAGTTCAGATTGCAAAACACTTATCTTTTCCAAAAGAGTACGTTTTGTTAATCATGGATAAGTCTTCAGTTAGACTGTTAGGAAAATGAAATCAGGGCTAGTTCTTTCTGCTGAGAATCATTATATAGTCTCATATATTCTCAATTCTCCTACCAATATATTATTCTTACTGGATATCTTCCGTAATGAAAGGCTTGATGCTTGATGTAAAAATCAAAATATATTTAAAACTTTATTCCCAGACTCATAGATTCCTATTCTAATAGGAATAATGGATGTCTTAACCTACATAGTAGTCTTTTGATTAATATCTTGTTTCATAAATCTGAATTTCATCTACCTGGCAAACATTCATGATTTAATTATGGGTCAGGTGAGCTGCTGTAGCTAGCTAGTCAGAGCTGATTGAGTATCCATTGGGTGTTAAGTGTCTTCAGTTAGCCTGAAGTTATTTATTTGACTTAATATTTAAACTGTAGGCGTGCTGAAAGGTTTCCATATATATATATTTTAATTTACTGGTCTCTAAATACTGCTTTGAAGTGAGCCTTTAAGTTGACTTGTTAGTGCTATATGAATTTCTCCTTCAATTATACTTCTGTTGTAGTTCTTTAAAAAATAGTAAGTTACTTGTCAATGTGCAGTTTTTTTTTTTTTTAATTAACAAAAAGTAAGTATCTTAGGATTTGGTTGAATGAATGAAACAGAGCAGTGCTCCTGTGTTTTGTTGAAAAGCAGCTCCTTTTGTTTTCATCCAACTGCTATCAATAGGGCATCCTAAGGCTGCAGGACTTGGGTGTCCCCAAGTCAAGTTTGAACTCGTCTCCCGGATGCCTTTGCATAGGTGTGTTGTAAATGGTCCTCACTGACTCATTACAGTAGAGTTGGGGCTCAGTGTTCTGTTGAGTCTGTTTGAATGTTATCCCTTCAGTAATCCTTAGGGATAGGGAAATGAGTACGTGAGTCAACTTGTGATTTGTGATTCTCTCAGTGTTTAGAGCCTCTTCATGTACTGTACAATGCCGATCCTGGTGCCAGTGCCTGACAGACGTTTCCTGTTTGACCTTTTCTCCTGCAG
Seq C2 exon
ATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTACCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGTCTGTCATCATGGTGCCTGAAGAAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165699-TSC1:NM_001162427:4
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
NA
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF043887=Hamartin=FE(48.6=100),PF043887=Hamartin=PU(0.1=0.0)
A:
NA
C2:
PF043887=Hamartin=PD(0.1=0.0),PF043887=Hamartin=FE(8.0=100)
Main Inclusion Isoform:
NA
Associated events
Other assemblies
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
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)