HsaEX0057543 @ hg38
Exon Skipping
Gene
ENSG00000107290 | SETX
Description
senataxin [Source:HGNC Symbol;Acc:HGNC:445]
Coordinates
chr9:132281467-132283413:-
Coord C1 exon
chr9:132283219-132283413
Coord A exon
chr9:132282627-132282857
Coord C2 exon
chr9:132281467-132281574
Length
231 bp
Sequences
Splice sites
3' ss Seq
GGGTACGTACTGTTTGTCAGAAC
3' ss Score
3.5
5' ss Seq
AATGTGATT
5' ss Score
-1.75
Exon sequences
Seq C1 exon
GTTCAAGGACGCCCACAGAAAACACAGAGTATCATCATCTTAGAGTCCCATATCATCTGCTGCACGTTGAGCACAAGTGGTGGTTTACTACTTGAGTCTGCTTTCCGTGGGCAAGGGGGTGTCCCCTTCAGCTGTGTCATTGTTGATGAGGTCAGTGAACGGTCAGCCATACAACTTTGACTACTACTATGAGGA
Seq A exon
AACGTAGAGTCAGAAGACAAAAGAGATGGAGCAGGAGATACCAGAGAATTGAGTGATCAGGAGACCCAAGATCCAGTTTTCACCAGAAGGAAAGGACAAAAAGTGGAAATGATTAAATAGTTGAAGAAAATGTCATTGAATTTAAGAGAAATTTGAGTCTTGTCATCAAAGAGGCATGCTGAGGAACAAGGAAGAAAGATATGGGGAAACACACTCATGGACGCTCCTAAT
Seq C2 exon
GCTGGACAGTCTTGTGAAATTGAGACTCTTACTCCACTCATCCATCGCTGCAATAAGCTCATCCTAGTAGGAGATCCTAAGCAGCTCCCTCCGACAGTCATCTCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107290_MULTIEX2-3/3=2-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.020 A=0.744 C2=0.000
Domain overlap (PFAM):
C1:
PF130861=AAA_11=FE(17.1=100)
A:
PF130861=AAA_11=PD(0.4=2.5)
C2:
PF130861=AAA_11=FE(12.2=100)
Main Inclusion Isoform:
ENST00000224140fB6254
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACGCCCACAGAAAACACAGA
R:
AGAGATGACTGTCGGAGGGAG
Band lengths:
293-524
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