HsaEX0007247 @ hg19
Exon Skipping
Gene
ENSG00000124788 | ATXN1
Description
ataxin 1 [Source:HGNC Symbol;Acc:10548]
Coordinates
chr6:16299343-16486341:-
Coord C1 exon
chr6:16486203-16486341
Coord A exon
chr6:16326625-16328701
Coord C2 exon
chr6:16299343-16307090
Length
2077 bp
Sequences
Splice sites
3' ss Seq
TGCCCTCTTCCCTTTCCCAGCAT
3' ss Score
9.29
5' ss Seq
CAGGTAACG
5' ss Score
10.52
Exon sequences
Seq C1 exon
GGTATTTCTCACTTCTCTGTGAAAGGAAGAAAGAACACGCCTGAGCCCAAGAGCCCTCAGGAGCCCTCCAGAGCCTGTGGGAAGTCTCCATGGTGAAGTATAGGCTGAGGCTACCTGTGAACAGTACGCAGTGAATGTT
Seq A exon
CATCCAGAGCTGCTGTTGGCGGATTGTACCCACGGGGAGATGATTCCTCATGAAGAGCCTGGATCCCCTACAGAAATCAAATGTGACTTTCCGTTTATCAGACTAAAATCAGAGCCATCCAGACAGTGAAACAGTCACCGTGGAGGGGGGACGGCGAAAAATGAAATCCAACCAAGAGCGGAGCAACGAATGCCTGCCTCCCAAGAAGCGCGAGATCCCCGCCACCAGCCGGTCCTCCGAGGAGAAGGCCCCTACCCTGCCCAGCGACAACCACCGGGTGGAGGGCACAGCATGGCTCCCGGGCAACCCTGGTGGCCGGGGCCACGGGGGCGGGAGGCATGGGCCGGCAGGGACCTCGGTGGAGCTTGGTTTACAACAGGGAATAGGTTTACACAAAGCATTGTCCACAGGGCTGGACTACTCCCCGCCCAGCGCTCCCAGGTCTGTCCCCGTGGCCACCACGCTGCCTGCCGCGTACGCCACCCCGCAGCCAGGGACCCCGGTGTCCCCCGTGCAGTACGCTCACCTGCCGCACACCTTCCAGTTCATTGGGTCCTCCCAATACAGTGGAACCTATGCCAGCTTCATCCCATCACAGCTGATCCCCCCAACCGCCAACCCCGTCACCAGTGCAGTGGCCTCGGCCGCAGGGGCCACCACTCCATCCCAGCGCTCCCAGCTGGAGGCCTATTCCACTCTGCTGGCCAACATGGGCAGTCTGAGCCAGACGCCGGGACACAAGGCTGAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATCAGCATCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCACCTCAGCAGGGCTCCGGGGCTCATCACCCCGGGGTCCCCCCCACCAGCCCAGCAGAACCAGTACGTCCACATTTCCAGTTCTCCGCAGAACACCGGCCGCACCGCCTCTCCTCCGGCCATCCCCGTCCACCTCCACCCCCACCAGACGATGATCCCACACACGCTCACCCTGGGGCCCCCCTCCCAGGTCGTCATGCAATACGCCGACTCCGGCAGCCACTTTGTCCCTCGGGAGGCCACCAAGAAAGCTGAGAGCAGCCGGCTGCAGCAGGCCATCCAGGCCAAGGAGGTCCTGAACGGTGAGATGGAGAAGAGCCGGCGGTACGGGGCCCCGTCCTCAGCCGACCTGGGCCTGGGCAAGGCAGGCGGCAAGTCGGTTCCTCACCCGTACGAGTCCAGGCACGTGGTGGTCCACCCGAGCCCCTCAGACTACAGCAGTCGTGATCCTTCGGGGGTCCGGGCCTCTGTGATGGTCCTGCCCAACAGCAACACGCCCGCAGCTGACCTGGAGGTGCAACAGGCCACTCATCGTGAAGCCTCCCCTTCTACCCTCAACGACAAAAGTGGCCTGCATTTAGGGAAGCCTGGCCACCGGTCCTACGCGCTCTCACCCCACACGGTCATTCAGACCACACACAGTGCTTCAGAGCCACTCCCGGTGGGACTGCCAGCCACGGCCTTCTACGCAGGGACTCAACCCCCTGTCATCGGCTACCTGAGCGGCCAGCAGCAAGCAATCACCTACGCCGGCAGCCTGCCCCAGCACCTGGTGATCCCCGGCACACAGCCCCTGCTCATCCCGGTCGGCAGCACTGACATGGAAGCGTCGGGGGCAGCCCCGGCCATAGTCACGTCATCCCCCCAGTTTGCTGCAGTGCCTCACACGTTCGTCACCACCGCCCTTCCCAAGAGCGAGAACTTCAACCCTGAGGCCCTGGTCACCCAGGCCGCCTACCCAGCCATGGTGCAGGCCCAGATCCACCTGCCTGTGGTGCAGTCCGTGGCCTCCCCGGCGGCGGCTCCCCCTACGCTGCCTCCCTACTTCATGAAAGGCTCCATCATCCAGTTGGCCAACGGGGAGCTAAAGAAGGTGGAAGACTTAAAAACAGAAGATTTCATCCAGAGTGCAGAGATAAGCAACGACCTGAAGATCGACTCCAGCACCGTAGAGAGGATTGAAGACAGCCATAGCCCGGGCGTGGCCGTGATACAGTTCGCCGTCGGGGAGCACCGAGCCCAG
Seq C2 exon
GTCAGCGTTGAAGTTTTGGTAGAGTATCCTTTTTTTGTGTTTGGACAGGGCTGGTCATCCTGCTGTCCGGAGAGAACCAGCCAGCTCTTTGATTTGCCGTGTTCCAAACTCTCAGTTGGGGATGTCTGCATCTCGCTTACCCTCAAGAACCTGAAGAACGGCTCTGTTAAAAAGGGCCAGCCCGTGGATCCCGCCAGCGTCCTGCTGAAGCACTCAAAGGCCGACGGCCTGGCGGGCAGCAGACACAGGTATGCCGAGCAGGAAAACGGAATCAACCAGGGGAGTGCCCAGATGCTCTCTGAGAATGGCGAACTGAAGTTTCCAGAGAAAATGGGATTGCCTGCAGCGCCCTTCCTCACCAAAATAGAACCCAGCAAGCCCGCGGCAACGAGGAAGAGGAGGTGGTCGGCGCCAGAGAGCCGCAAACTGGAGAAGTCAGAAGACGAACCACCTTTGACTCTTCCTAAGCCTTCTCTAATTCCTCAGGAGGTTAAGATTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124788_MULTIEX1-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion (Ref, Alt. ATG (<=10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.670 C2=0.455
Domain overlap (PFAM):
C1:
NA
A:
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)
C2:
PF085177=AXH=PD(41.7=27.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 1 annotated functions for this event
PMID: 21475249
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: two hybrid. ELM ID: ELMI002971; ELM sequence: AWLP; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)