HsaEX0066554 @ hg38
Exon Skipping
Gene
ENSG00000136816 | TOR1B
Description
torsin family 1 member B [Source:HGNC Symbol;Acc:HGNC:11995]
Coordinates
chr9:129807188-129811281:+
Coord C1 exon
chr9:129807188-129807363
Coord A exon
chr9:129808905-129809032
Coord C2 exon
chr9:129810227-129811281
Length
128 bp
Sequences
Splice sites
3' ss Seq
TATTTCTCTGGCAAACTCAGCAA
3' ss Score
0.42
5' ss Seq
ACAGTGAGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
GACCAGTTACAGAAGTGGATCCGCGGTAATGTGAGTGCATGTGCGAACTCTGTTTTCATATTTGACGAGATGGATAAATTGCACCCCGGGATCATTGACGCAATCAAGCCGTTTCTAGACTACTACGAGCAGGTTGACGGAGTGTCTTACCGCAAAGCCATCTTCATCTTTCTCAG
Seq A exon
CAATGCAGGCGGGGACCTTATAACTAAGACGGCTCTTGACTTTTGGCGGGCCGGAAGAAAGAGGGAAGACATTCAGCTGAAGGACCTGGAACCTGTACTGTCTGTCGGAGTCTTCAATAATAAACACA
Seq C2 exon
AGTTCACTGACTTGAAGTATACTCAGTTAAAATCGGGGCTGGAGGTGCAGACGGTGTCTGACCGGAGGATGTGGCCGTGCCCGCCGAGCACTCTTGATCTGAGCTGACCTGTGTGTGTGTGTGTGGGGGGGTGGGGCCTTCACCTAAGACCTCTGCAGCAGACCTGGACAGACAGGCCCCTCCCGCCTGTCCATCGCTCTAGCTGCTAATACAGCCCTGGCTGTGGAATCCTTCACCGTCTCAGCTGGTATCAGCCCCAGCCTGCCTTGTGCCATATCTCAGCTTGGATCTCTGCTAGAGTCCCCCCAACCATATATCATAGAGTTGAATCACAATGAGACCGTTGGCTTTGAATTTGAGTCGTTGGTTCCCATGGTGAGATGCTTGTTAAGACTTTATACTTGGGTCAATCTCTCACTTTATTTTGTAGAACCATTTGAAATCCTAGGATGTGCTTGTTCTGGAAGGATGACATGGGCCCAGACTGAACAAGTCAGCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136816_MULTIEX1-4/6=3-C2
Average complexity
C2
Mappability confidence:
97%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF063096=Torsin=PD(15.9=33.9)
A:
NO
C2:
PF063096=Torsin=PD(3.7=66.7)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGGGATCATTGACGCAATCA
R:
TGCTGCAGAGGTCTTAGGTGA
Band lengths:
251-379
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