HsaEX6047992 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:63762461-63788249:-
Coord C1 exon
chr6:63788105-63788249
Coord A exon
chr6:63778006-63778180
Coord C2 exon
chr6:63762461-63762633
Length
175 bp
Sequences
Splice sites
3' ss Seq
TGTTTTTGCATTTCTTCAAGGCT
3' ss Score
6.47
5' ss Seq
TTAGTAAGT
5' ss Score
7.79
Exon sequences
Seq C1 exon
GTAGATGATCATAAAAATAAATCCATTATCGCCCCAGGAAGACTGGTTGGTCTCAATGTCTTCAGTCAGTTTTATGTAGGTGGCTACAGTGAATACACTCCAGATCTCTTACCAAATGGAGCAGATTTTAAAAATGGTTTTCAAG
Seq A exon
GCTGTATTTTCACTCTTCAAGTTCGCACTGAGAAGGATGGCCATTTCAGAGGACTGGGAAATCCTGAGGGCCACCCAAATGCTGGACGCAGTGTTGGCCAGTGTCATGCTTCTCCCTGCAGTTTAATGAAATGTGGCAATGGTGGGACATGCATAGAGAGTGGAACTAGTGTTTA
Seq C2 exon
CTGCAATTGTACCACTGGGTGGAAAGGATCATTCTGCACAGAGACAGTTTCTACCTGTGATCCTGAACATGACCCTCCACACCACTGTAGCAGAGGAGCAACCTGCATTTCATTACCTCATGGATACACCTGTTTCTGTCCTCTAGGAACCACTGGAATCTACTGTGAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107-'108-139,'108-137,112-139
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.182 C2=0.000
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=FE(36.6=100)
A:
PF0221019=Laminin_G_2=PD(7.6=16.9),PF0000822=EGF=PU(61.3=32.2)
C2:
PF0000822=EGF=PD(35.5=18.6),PF0000822=EGF=WD(100=61.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
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:
TCCATTATCGCCCCAGGAAGA
R:
TGAGGTAATGAAATGCAGGTTGCT
Band lengths:
244-419
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains