HsaEX0007245 @ hg38
Exon Skipping
Gene
ENSG00000124788 | ATXN1
Description
ataxin 1 [Source:HGNC Symbol;Acc:HGNC:10548]
Coordinates
chr6:16657776-16761456:-
Coord C1 exon
chr6:16761298-16761456
Coord A exon
chr6:16753233-16753347
Coord C2 exon
chr6:16657776-16657901
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
CTACTACAGTGGCGGAGCCGTACAGGACCTGTTTCACTGCAGGGGGATCCAAAACAAGCCCCGTGGAGCAGCAGCCAGAGCAACAGCAGCCGCAAGACATTGTTTCTCTCCCTCTGCCCCCCCTTCCCCACGCAACCCCAGATCCATTTACACTTTACA
Seq A exon
GAGCATCGTGCATCAAGTCACCAGGGTGGTCCATTCAAGCTGCAGATTTGTTTGTCATCCTTGTACAGCAATCTCCTCCTCCACTGCCACTACAGGGAAGTGCATCACATGTCAG
Seq C2 exon
CATACTGGAGCATAGTGAAAGAGTCTATTTTGAAGCTTCAAACTTAGTGCTGCTGCAGACCAGGAACAAGAGAGAAAGAGTGGATTTCAGCCTGCACGGATGGTCTTGAAACACAAATGGTTTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124788_MULTIEX2-2/8=C1-4
Average complexity
C1
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
Cow
(bosTau6)
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:
CTGTTTCACTGCAGGGGGATC
R:
TTTCAAGACCATCCGTGCAGG
Band lengths:
242-357
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