HsaEX6047988 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:63788105-63806372:-
Coord C1 exon
chr6:63806190-63806372
Coord A exon
chr6:63789058-63789224
Coord C2 exon
chr6:63788105-63788249
Length
167 bp
Sequences
Splice sites
3' ss Seq
CATGTGTCTTCTCATTCCAGGGT
3' ss Score
10.33
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
Exon sequences
Seq C1 exon
CTATTAATATTACTCAGCCAAGGTTCAGTGGCACAGATGCCTTTGGATACACCTCATTCCTGGCTTATTCACGGATCTCAGACATCAGCTTCCATTATGAATTCCACCTGAAGTTTCAGCTGGCAAACAACCACTCAGCACTGCAAAATAACTTGATATTTTTTACTGGACAGAAAGGCCATG
Seq A exon
GGTTGAATGGCGATGACTTCCTGGCTGTGGGCCTGCTCAATGGCAGTGTGGTTTATAGTTATAACCTGGGGTCTGGCATAGCAAGCATCAGGAGCGAGCCCCTCAATCTGAGCCTTGGAGTCCACACTGTTCATCTGGGCAAGTTCTTCCAAGAGGGCTGGCTGAAG
Seq C2 exon
GTAGATGATCATAAAAATAAATCCATTATCGCCCCAGGAAGACTGGTTGGTCTCAATGTCTTCAGTCAGTTTTATGTAGGTGGCTACAGTGAATACACTCCAGATCTCTTACCAAATGGAGCAGATTTTAAAAATGGTTTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107-'96-134,'96-128,107-134=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=PU(12.2=25.8)
A:
PF0221019=Laminin_G_2=FE(42.0=100)
C2:
PF0221019=Laminin_G_2=FE(36.6=100)
Main Skipping Isoform:
ENST00000370621fB15148
Other Skipping Isoforms:
NA
Associated events
Other assemblies
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:
GAGATCGCGCCACTGCAC
R:
ACTGTGGCAGTTGACATACTTCC
Band lengths:
138-305
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains