HsaEX1013687 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:64306970-64388840:-
Coord C1 exon
chr6:64388690-64388840
Coord A exon
chr6:64384206-64384261
Coord C2 exon
chr6:64306970-64307082
Length
56 bp
Sequences
Splice sites
3' ss Seq
TAATTTTTTTTAATTTCTAGTGA
3' ss Score
7.07
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
GCAAGAATTGGATCCATGTAACGCTGAGCTGACTATTTTAGGGAGGAATACACAAATATGCGAATCTATCAATCATGTACTCGGAAAACCCCTGCCAAAATCAGGATCTGTCTTCATTGGTGGATTTCCAGACCTTCATGGGAAAATCCAG
Seq A exon
TGAATCCATTTGGAAATAGGGACACTGGTAAAGCAAATGAGTGTTATGCACTTCAG
Seq C2 exon
ATGCCTGTACCAGTCAAGAATTTTACTGGCTGCATAGAAGTTATAGAAATAAATAACTGGAGATCTTTCATTCCATCCAAGGCAGTGAAAAACTATCACATTAACAATTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=FE(37.0=100)
A:
NA
C2:
PF0221019=Laminin_G_2=PD(13.3=47.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
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:
CAGGATCTGTCTTCATTGGTGGA
R:
TCACTGCCTTGGATGGAATGA
Band lengths:
138-194
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains