HsaEX1013682 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:63789058-63805626:-
Coord C1 exon
chr6:63805526-63805626
Coord A exon
chr6:63802222-63802293
Coord C2 exon
chr6:63789058-63789224
Length
72 bp
Sequences
Splice sites
3' ss Seq
TCTTCCCCTCCTTATGCAAGTAA
3' ss Score
2.03
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
GGAACACAAAACCTAACCATATCAGCTACCTTTCATAATCAAAAGAAAAAATTCCTACAGGCAAACATGAGGACAGGGAAGGTGACCAAGTCACATGGGAA
Seq A exon
TAATATTTGAAGGCAACTACTGAAAATCTCCAGGAGCCAGCTAAATTAGACCACATGCAAGTATGGACTAAG
Seq C2 exon
GGTTGAATGGCGATGACTTCCTGGCTGTGGGCCTGCTCAATGGCAGTGTGGTTTATAGTTATAACCTGGGGTCTGGCATAGCAAGCATCAGGAGCGAGCCCCTCAATCTGAGCCTTGGAGTCCACACTGTTCATCTGGGCAAGTTCTTCCAAGAGGGCTGGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107-'105-128,'105-127,106-128
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NO
C2:
PF0221019=Laminin_G_2=FE(42.0=100)
Main Inclusion Isoform:
ENST00000370621fB15148
Other Inclusion Isoforms:
NA
Other Skipping 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:
ACAGGGAAGGTGACCAAGTCA
R:
TTGCCCAGATGAACAGTGTGG
Band lengths:
171-243
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains