HsaEX0066558 @ hg19
Exon Skipping
Gene
ENSG00000186283 | TOR3A
Description
torsin family 3, member A [Source:HGNC Symbol;Acc:11997]
Coordinates
chr1:179050512-179057224:+
Coord C1 exon
chr1:179050512-179051522
Coord A exon
chr1:179052075-179052188
Coord C2 exon
chr1:179057046-179057224
Length
114 bp
Sequences
Splice sites
3' ss Seq
CACAGCTCCTCCTTTTCCAGGCT
3' ss Score
8.12
5' ss Seq
CAGGTTGGA
5' ss Score
5.59
Exon sequences
Seq C1 exon
ACCTGGCCTGAAGTCAGTCTCGGGACTGCCTCTCAGGACCCCAGACAGGGTTTCGGGTTCCCGCCTGGGTCACGTGTACGGAGGCTGCCAGTGCGCACTCAGCCCGGCCCGCCGGTCGCCACAGCAACACCAATCCCGGGTTCAAGCCCGCCTAGGAAGTGCGGTCCCCGCCTGACCGCCCCGGGCTTAAGGGAGCCTGGCTAGGCCGGCAGCCGGATGGTCCCGCAGCTCGGGGCCGGCCATGCTTCGCGGTCCGTGGCGCCAGCTTTGGCTCTTTTTCCTGCTGCTGCTCCCGGGCGCGCCTGAGCCCCGCGGCGCCTCCAGGCCGTGGGAGGGAACCGACGAGCCGGGCTCGGCCTGGGCCTGGCCGGGCTTCCAGCGCCTGCAGGAGCAGCTCAGGGCGGCGGGTGCCCTCTCCAAGCGGTACTGGACGCTCTTCAGCTGCCAGGTGTGGCCCGACGACTGTGACGAGGACGAGGAGGCAGCCACGGGGCCCCTGG
Seq A exon
GCTGGCGCCTTCCTCTGTTGGGCCAGCGGTACCTGGACCTCCTGACCACGTGGTACTGCAGCTTCAAAGACTGCTGCCCTAGAGGGGATTGCAGAATCTCCAACAACTTTACAG
Seq C2 exon
GAGCAGCTGATGAGCCAGATCCGGGAGACGCAGCAGCTCTGCCACCAGACCCTGTTCATCTTCGATGAAGCGGAGAAGCTGCACCCAGGGCTGCTGGAGGTCCTTGGGCCACACTTAGAACGCCGGGCCCCTGAGGGCCACAGGGCTGAGTCTCCATGGACTATCTTTCTGTTTCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186283_MULTIEX1-1/3=C1-3
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.069 A=0.000 C2=0.017
Domain overlap (PFAM):
C1:
NO
A:
PF063096=Torsin=PU(14.7=48.7)
C2:
PF063096=Torsin=PD(15.5=33.3)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTTTTCCTGCTGCTGCTCC
R:
GATCTGGCTCATCAGCTGCTC
Band lengths:
249-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)