HsaEX6047983 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:63999075-64082002:-
Coord C1 exon
chr6:64081856-64082002
Coord A exon
chr6:64066338-64066491
Coord C2 exon
chr6:63999075-63999183
Length
154 bp
Sequences
Splice sites
3' ss Seq
ATATTCTTTTTTTCTTAAAGGTA
3' ss Score
10.09
5' ss Seq
ACGGTAAGT
5' ss Score
11.81
Exon sequences
Seq C1 exon
ATGCAGGTTTATTCTTTCCATCTTTCAATGGGAATTCCTATTTAGAACTGCCCTTTTTGAAGTTTGTCCTGGAGAAGGAACATAACAGAACTGTTACCATCTACTTGACTATAAAAACAAACAGTTTAAATGGAACTATTCTTTACA
Seq A exon
GTAATGGGAATAATTGTGGAAAGCAGTTTCTTCATTTATTTCTTGTGGAAGGAAGGCCATCAGTTAAATATGGGTGTGGAAATTCTCAAAATATTTTGACTGTTTCTGCTAATTACAGCATTAACACAAATGCATTCACCCCTATCACAATACG
Seq C2 exon
CTACACAACGCCTGTTGGCAGCCCTGGAGTTGTTTGTATGATTGAAATGACTGCAGATGGAAAACCTCCAGTACAGAAGAAAGACACAGAGATTTCCCATGCCTCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107-'92-114,'92-109,94-114
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.115
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=PU(8.6=24.0)
A:
PF0221019=Laminin_G_2=FE(36.7=100)
C2:
PF0221019=Laminin_G_2=FE(25.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
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:
TGCAGGTTTATTCTTTCCATCTTTCA
R:
AGGCATGGGAAATCTCTGTGT
Band lengths:
250-404
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains