HsaEX6045824 @ hg19
Exon Skipping
Gene
ENSG00000124788 | ATXN1
Description
ataxin 1 [Source:HGNC Symbol;Acc:10548]
Coordinates
chr6:16326625-16522919:-
Coord C1 exon
chr6:16522858-16522919
Coord A exon
chr6:16486203-16486340
Coord C2 exon
chr6:16326625-16328701
Length
138 bp
Sequences
Splice sites
3' ss Seq
CTGTTCTATTTCCATGCTAGGTA
3' ss Score
10.12
5' ss Seq
GTTGTAAGT
5' ss Score
8.3
Exon sequences
Seq C1 exon
TTTTCCAAAGAAATTAGACCATTTTCTTCGTGAGAAAGAAATCGACGTGCTGTTTTCATAGG
Seq A exon
GTATTTCTCACTTCTCTGTGAAAGGAAGAAAGAACACGCCTGAGCCCAAGAGCCCTCAGGAGCCCTCCAGAGCCTGTGGGAAGTCTCCATGGTGAAGTATAGGCTGAGGCTACCTGTGAACAGTACGCAGTGAATGTT
Seq C2 exon
CATCCAGAGCTGCTGTTGGCGGATTGTACCCACGGGGAGATGATTCCTCATGAAGAGCCTGGATCCCCTACAGAAATCAAATGTGACTTTCCGTTTATCAGACTAAAATCAGAGCCATCCAGACAGTGAAACAGTCACCGTGGAGGGGGGACGGCGAAAAATGAAATCCAACCAAGAGCGGAGCAACGAATGCCTGCCTCCCAAGAAGCGCGAGATCCCCGCCACCAGCCGGTCCTCCGAGGAGAAGGCCCCTACCCTGCCCAGCGACAACCACCGGGTGGAGGGCACAGCATGGCTCCCGGGCAACCCTGGTGGCCGGGGCCACGGGGGCGGGAGGCATGGGCCGGCAGGGACCTCGGTGGAGCTTGGTTTACAACAGGGAATAGGTTTACACAAAGCATTGTCCACAGGGCTGGACTACTCCCCGCCCAGCGCTCCCAGGTCTGTCCCCGTGGCCACCACGCTGCCTGCCGCGTACGCCACCCCGCAGCCAGGGACCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124788-'16-18,'16-14,17-18=AN
Average complexity
A_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
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:
CGTGAGAAAGAAATCGACGTGC
R:
CTTCTTGGGAGGCAGGCATTC
Band lengths:
242-380
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)