HsaEX0007243 @ hg38
Exon Skipping
Gene
ENSG00000124788 | ATXN1
Description
ataxin 1 [Source:HGNC Symbol;Acc:HGNC:10548]
Coordinates
chr6:16326394-16486109:-
Coord C1 exon
chr6:16485972-16486109
Coord A exon
chr6:16432946-16433096
Coord C2 exon
chr6:16326394-16328470
Length
151 bp
Sequences
Splice sites
3' ss Seq
TTTTCTCACCCTGTTTCTAGATC
3' ss Score
11
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
GTATTTCTCACTTCTCTGTGAAAGGAAGAAAGAACACGCCTGAGCCCAAGAGCCCTCAGGAGCCCTCCAGAGCCTGTGGGAAGTCTCCATGGTGAAGTATAGGCTGAGGCTACCTGTGAACAGTACGCAGTGAATGTT
Seq A exon
ATCTGATGCACAAAGGAAAATAATAATACAAAACCCATAACCTATTCATTGTATTGTTGCGGTAGATCGAGCTACATGCTGCACAGCAAAAGACCTTCTTTGCACTTCTTTCAAGCAGAATTATTGCTGTATATTCACTCTGAACTGAGAG
Seq C2 exon
CATCCAGAGCTGCTGTTGGCGGATTGTACCCACGGGGAGATGATTCCTCATGAAGAGCCTGGATCCCCTACAGAAATCAAATGTGACTTTCCGTTTATCAGACTAAAATCAGAGCCATCCAGACAGTGAAACAGTCACCGTGGAGGGGGGACGGCGAAAAATGAAATCCAACCAAGAGCGGAGCAACGAATGCCTGCCTCCCAAGAAGCGCGAGATCCCCGCCACCAGCCGGTCCTCCGAGGAGAAGGCCCCTACCCTGCCCAGCGACAACCACCGGGTGGAGGGCACAGCATGGCTCCCGGGCAACCCTGGTGGCCGGGGCCACGGGGGCGGGAGGCATGGGCCGGCAGGGACCTCGGTGGAGCTTGGTTTACAACAGGGAATAGGTTTACACAAAGCATTGTCCACAGGGCTGGACTACTCCCCGCCCAGCGCTCCCAGGTCTGTCCCCGTGGCCACCACGCTGCCTGCCGCGTACGCCACCCCGCAGCCAGGGACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124788_MULTIEX1-1/3=C1-3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.670
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
PF125473=ATXN-1_C=WD(100=4.9),PF085177=AXH=PU(56.5=10.2)
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
TGTGGGAAGTCTCCATGGTGA
R:
GCTCCGCTCTTGGTTGGATTT
Band lengths:
248-399
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