HsaEX1041638 @ hg38
Exon Skipping
Gene
ENSG00000136816 | TOR1B
Description
torsin family 1 member B [Source:HGNC Symbol;Acc:HGNC:11995]
Coordinates
chr9:129808905-129811281:+
Coord C1 exon
chr9:129808905-129809032
Coord A exon
chr9:129809342-129809600
Coord C2 exon
chr9:129810227-129811281
Length
259 bp
Sequences
Splice sites
3' ss Seq
AGCTGTGTCTTGTTCTGCAGGTG
3' ss Score
10.72
5' ss Seq
GGGGTAGGA
5' ss Score
4.36
Exon sequences
Seq C1 exon
CAATGCAGGCGGGGACCTTATAACTAAGACGGCTCTTGACTTTTGGCGGGCCGGAAGAAAGAGGGAAGACATTCAGCTGAAGGACCTGGAACCTGTACTGTCTGTCGGAGTCTTCAATAATAAACACA
Seq A exon
GTGGCCTGTGGCACAGTGGACTGATCGACAAAAACCTCATTGATTACTTTATCCCCTTCCTGCCTTTGGAGTACAGACATGTGAAAATGTGTGTGAGGGCCGAGATGAGGGCCCGTGGTTCTGCCATAGATGAAGACATTGTCACAAGAGTGGCAGAGGAAATGACGTTTTTCCCCAGAGACGAGAAAATCTACTCAGACAAGGGCTGCAAGACTGTGCAGTCGCGGCTGGATTTCCACTGAGCTCCTATCCAGATGGG
Seq C2 exon
AGTTCACTGACTTGAAGTATACTCAGTTAAAATCGGGGCTGGAGGTGCAGACGGTGTCTGACCGGAGGATGTGGCCGTGCCCGCCGAGCACTCTTGATCTGAGCTGACCTGTGTGTGTGTGTGTGGGGGGGTGGGGCCTTCACCTAAGACCTCTGCAGCAGACCTGGACAGACAGGCCCCTCCCGCCTGTCCATCGCTCTAGCTGCTAATACAGCCCTGGCTGTGGAATCCTTCACCGTCTCAGCTGGTATCAGCCCCAGCCTGCCTTGTGCCATATCTCAGCTTGGATCTCTGCTAGAGTCCCCCCAACCATATATCATAGAGTTGAATCACAATGAGACCGTTGGCTTTGAATTTGAGTCGTTGGTTCCCATGGTGAGATGCTTGTTAAGACTTTATACTTGGGTCAATCTCTCACTTTATTTTGTAGAACCATTTGAAATCCTAGGATGTGCTTGTTCTGGAAGGATGACATGGGCCCAGACTGAACAAGTCAGCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136816_MULTIEX1-5/6=4-C2
Average complexity
S
Mappability confidence:
96%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF063096=Torsin=PD(3.7=66.7)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGCTGAAGGACCTGGAACC
R:
GTGAAGGATTCCACAGCCAGG
Band lengths:
292-551
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains