HsaALTD1021675-1/2 @ hg38
Alternative 5'ss
Gene
ENSG00000136827 | TOR1A
Description
torsin family 1 member A [Source:HGNC Symbol;Acc:HGNC:3098]
Coordinates
chr9:129818745-129822838:-
Coord C1 exon
chr9:129822581-129822838
Coord A exon
NA
Coord C2 exon
chr9:129818745-129818920
Length
0 bp
Sequences
Splice sites
5' ss Seq
AAGGCAAGG
5' ss Score
2.76
3' ss Seq
TTTTTCCCCTTTTAATTCAGGAT
3' ss Score
9.84
Exon sequences
Seq C1 exon
AAGGATCTGGACGACAACCTCTTTGGACAGCATCTTGCAAAGAAAATCATCTTAAATGCCGTGTTTGGTTTCATAAACAACCCAAAGCCCAAGAAACCTCTCACGCTCTCCCTGCACGGGTGGACAGGCACCGGCAAAAATTTCGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACAAG
Seq A exon
NA
Seq C2 exon
GATCAGTTACAGTTGTGGATTCGAGGCAACGTGAGTGCCTGTGCGAGGTCCATCTTCATATTTGATGAAATGGATAAGATGCATGCAGGCCTCATAGATGCCATCAAGCCTTTCCTCGACTATTATGACCTGGTGGATGGGGTCTCCTACCAGAAAGCCATGTTCATATTTCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136827-5-5,6-5-1/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF063096=Torsin=FE(69.8=100)
A:
NA
C2:
PF063096=Torsin=PD(15.9=33.9)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCACCGGCAAAAATTTCGTCA
R:
CGAGGAAAGGCTTGATGGCAT
Band lengths:
249-443
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains