HsaEX0007240 @ hg38
Exon Skipping
Gene
ENSG00000124788 | ATXN1
Description
ataxin 1 [Source:HGNC Symbol;Acc:HGNC:10548]
Coordinates
chr6:16753233-16761456:-
Coord C1 exon
chr6:16761298-16761456
Coord A exon
chr6:16754043-16754091
Coord C2 exon
chr6:16753233-16753347
Length
49 bp
Sequences
Splice sites
3' ss Seq
TCTTCCGTTTCTATGCATAGGTT
3' ss Score
9.16
5' ss Seq
AAGGTATAT
5' ss Score
7.84
Exon sequences
Seq C1 exon
CTACTACAGTGGCGGAGCCGTACAGGACCTGTTTCACTGCAGGGGGATCCAAAACAAGCCCCGTGGAGCAGCAGCCAGAGCAACAGCAGCCGCAAGACATTGTTTCTCTCCCTCTGCCCCCCCTTCCCCACGCAACCCCAGATCCATTTACACTTTACA
Seq A exon
GTTTTACCTCACAAAAACTACTACAAGCACCAAGCTCCCTGATGGAAAG
Seq C2 exon
GAGCATCGTGCATCAAGTCACCAGGGTGGTCCATTCAAGCTGCAGATTTGTTTGTCATCCTTGTACAGCAATCTCCTCCTCCACTGCCACTACAGGGAAGTGCATCACATGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124788-'0-5,'0-2,9-5
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
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
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:
CACGCAACCCCAGATCCATTT
R:
GATGCACTTCCCTGTAGTGGC
Band lengths:
137-186
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