HsaEX0007243 @ hg19
Exon Skipping
Gene
ENSG00000124788 | ATXN1
Description
ataxin 1 [Source:HGNC Symbol;Acc:10548]
Coordinates
chr6:16326625-16486340:-
Coord C1 exon
chr6:16486203-16486340
Coord A exon
chr6:16433177-16433327
Coord C2 exon
chr6:16326625-16328701
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-'17-18,'17-15,19-18
Average complexity
C1
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:
PF138301=DUF4192=WD(100=17.4),PF125473=ATXN-1_C=WD(100=4.9),PF085177=AXH=PU(56.5=10.2),PF069718=Put_DNA-bind_N=WD(100=4.9)
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)