HsaEX1013683 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:63762461-63778180:-
Coord C1 exon
chr6:63778006-63778180
Coord A exon
chr6:63766626-63766715
Coord C2 exon
chr6:63762461-63762633
Length
90 bp
Sequences
Splice sites
3' ss Seq
TTAACCTCTCTCTTCCTTAGATT
3' ss Score
11.67
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
Exon sequences
Seq C1 exon
GCTGTATTTTCACTCTTCAAGTTCGCACTGAGAAGGATGGCCATTTCAGAGGACTGGGAAATCCTGAGGGCCACCCAAATGCTGGACGCAGTGTTGGCCAGTGTCATGCTTCTCCCTGCAGTTTAATGAAATGTGGCAATGGTGGGACATGCATAGAGAGTGGAACTAGTGTTTA
Seq A exon
ATTCCTTCTCTGAAAAATGAGGATGATGCTAGTACCCTTCTTATAACATAATAGAGAAACTAGAAAGGTTAGAAGACTGCCTGGCACATG
Seq C2 exon
CTGCAATTGTACCACTGGGTGGAAAGGATCATTCTGCACAGAGACAGTTTCTACCTGTGATCCTGAACATGACCCTCCACACCACTGTAGCAGAGGAGCAACCTGCATTTCATTACCTCATGGATACACCTGTTTCTGTCCTCTAGGAACCACTGGAATCTACTGTGAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107-'112-139,'112-138,113-139
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.182 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=PD(7.6=16.9),PF0000822=EGF=PU(61.3=32.2)
A:
NA
C2:
PF0000822=EGF=PD(35.5=18.6),PF0000822=EGF=WD(100=61.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
TTGGCCAGTGTCATGCTTCTC
R:
CTACAGTGGTGTGGAGGGTCA
Band lengths:
172-262
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains