HsaEX0007245 @ hg19
Exon Skipping
Gene
ENSG00000124788 | ATXN1
Description
ataxin 1 [Source:HGNC Symbol;Acc:10548]
Coordinates
chr6:16658007-16754322:-
Coord C1 exon
chr6:16754274-16754322
Coord A exon
chr6:16753464-16753578
Coord C2 exon
chr6:16658007-16658132
Length
115 bp
Sequences
Splice sites
3' ss Seq
CACTCCCTCGACCATTGCAGGAG
3' ss Score
7
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GTTTTACCTCACAAAAACTACTACAAGCACCAAGCTCCCTGATGGAAAG
Seq A exon
GAGCATCGTGCATCAAGTCACCAGGGTGGTCCATTCAAGCTGCAGATTTGTTTGTCATCCTTGTACAGCAATCTCCTCCTCCACTGCCACTACAGGGAAGTGCATCACATGTCAG
Seq C2 exon
CATACTGGAGCATAGTGAAAGAGTCTATTTTGAAGCTTCAAACTTAGTGCTGCTGCAGACCAGGAACAAGAGAGAAAGAGTGGATTTCAGCCTGCACGGATGGTCTTGAAACACAAATGGTTTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124788-'2-6,'2-1,3-6
Average complexity
C2
Mappability confidence:
100%=67=86%
Protein Impact
NA
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=NA
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NA
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTCACAAAAACTACTACAAGCAC
R:
CAAAAACCATTTGTGTTTCAAGACCA
Band lengths:
170-285
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)