HsaEX0066559 @ hg38
Exon Skipping
Gene
ENSG00000186283 | TOR3A
Description
torsin family 3 member A [Source:HGNC Symbol;Acc:HGNC:11997]
Coordinates
chr1:179082940-179088089:+
Coord C1 exon
chr1:179082940-179083053
Coord A exon
chr1:179085628-179085893
Coord C2 exon
chr1:179087911-179088089
Length
266 bp
Sequences
Splice sites
3' ss Seq
TACCTCTTTCCTGTCCTTAGGCT
3' ss Score
10.73
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
GCTGGCGCCTTCCTCTGTTGGGCCAGCGGTACCTGGACCTCCTGACCACGTGGTACTGCAGCTTCAAAGACTGCTGCCCTAGAGGGGATTGCAGAATCTCCAACAACTTTACAG
Seq A exon
GCTTAGAGTGGGACCTGAATGTGCGGCTGCATGGCCAGCATTTGGTCCAGCAGCTGGTCCTAAGAACAGTGAGGGGCTACTTAGAGACGCCCCAGCCAGAAAAGGCCCTTGCTCTGTCGTTCCACGGCTGGTCTGGCACAGGCAAGAACTTCGTGGCACGGATGCTGGTGGAGAACCTGTATCGGGACGGGCTGATGAGTGACTGTGTCAGGATGTTCATCGCCACGTTCCACTTTCCTCACCCCAAATATGTGGACCTGTACAAG
Seq C2 exon
GAGCAGCTGATGAGCCAGATCCGGGAGACGCAGCAGCTCTGCCACCAGACCCTGTTCATCTTCGATGAAGCGGAGAAGCTGCACCCAGGGCTGCTGGAGGTCCTTGGGCCACACTTAGAACGCCGGGCCCCTGAGGGCCACAGGGCTGAGTCTCCATGGACTATCTTTCTGTTTCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186283_MULTIEX1-3/6=1-4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.007
Domain overlap (PFAM):
C1:
PF063096=Torsin=PU(14.7=48.7)
A:
PF063096=Torsin=FE(68.2=100)
C2:
PF063096=Torsin=PD(15.5=33.3)
Main Skipping Isoform:
ENST00000352445fB28601
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGGCGCCTTCCTCTGTT
R:
TGAGAAACAGAAAGATAGTCCATGGA
Band lengths:
292-558
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