HsaEX1013689 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:64822651-64886842:-
Coord C1 exon
chr6:64886697-64886842
Coord A exon
chr6:64885797-64885887
Coord C2 exon
chr6:64822651-64822822
Length
91 bp
Sequences
Splice sites
3' ss Seq
ATTAGGTTCTCTGCCAGCAGGGA
3' ss Score
4.06
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
ATTTTTTTGTAATTGTGAACCTGAGTACCATGGGCCCTTCTGTGAACTTGATGTAAATAAATGTAAAATCTCACCTTGTCTAGATGAAGAAAATTGTGTCTACAGGACTGATGGATACAACTGCCTCTGTGCCCCTGGTTATACAG
Seq A exon
GGATAAAATAATACTAGACACATGGAAATTATATTGGCAAGCAAAAATGGAAAGGAACTAGAAGTATTTCCAGAGAATAAGTAATCAAAAG
Seq C2 exon
GCATCAACTGTGAAATAAATCTAGATGAATGCCTATCAGAGCCCTGTCTCCATGATGGAGTTTGTATCGATGGCATCAATCATTATACCTGTGACTGCAAGAGTGGGTTTTTTGGAACACACTGTGAAACAAACGCCAATGATTGCCTTTCAAATCCTTGTCTACATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107_CASSETTE4
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(41.9=26.0),PF126612=hEGF=PU(69.2=18.0)
A:
NO
C2:
PF126612=hEGF=PD(23.1=5.2),PF0000822=EGF=WD(100=53.4)
Main Inclusion Isoform:
ENST00000370621fB15155
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
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:
TACCATGGGCCCTTCTGTGAA
R:
TGGAGACAGGGCTCTGATAGG
Band lengths:
173-264
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains