HsaEX6047987 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:63789058-63864358:-
Coord C1 exon
chr6:63864186-63864358
Coord A exon
chr6:63806190-63806372
Coord C2 exon
chr6:63789058-63789224
Length
183 bp
Sequences
Splice sites
3' ss Seq
TGGTTTGGGTTTTTTCACAGCTA
3' ss Score
6.97
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
TGATAATGAAAATCTGTTTTGTGAGTGTCCAAGGCTGTATTCAGGCAAGCTGTGCCAGTTTGCAAGTTGTGAAAACAACCCATGTGGAAATGGTGCCACCTGTGTTCCAAAATCCGGAACAGATATTGTCTGCCTCTGCCCATATGGGAGGTCTGGACCCCTCTGCACTGATG
Seq A exon
CTATTAATATTACTCAGCCAAGGTTCAGTGGCACAGATGCCTTTGGATACACCTCATTCCTGGCTTATTCACGGATCTCAGACATCAGCTTCCATTATGAATTCCACCTGAAGTTTCAGCTGGCAAACAACCACTCAGCACTGCAAAATAACTTGATATTTTTTACTGGACAGAAAGGCCATG
Seq C2 exon
GGTTGAATGGCGATGACTTCCTGGCTGTGGGCCTGCTCAATGGCAGTGTGGTTTATAGTTATAACCTGGGGTCTGGCATAGCAAGCATCAGGAGCGAGCCCCTCAATCTGAGCCTTGGAGTCCACACTGTTCATCTGGGCAAGTTCTTCCAAGAGGGCTGGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107-'102-128,'102-123,104-128
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PD(54.8=29.3),PF0000822=EGF=WD(100=55.2)
A:
PF0221019=Laminin_G_2=PU(12.2=25.8)
C2:
PF0221019=Laminin_G_2=FE(42.0=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGTGGAAATGGTGCCACCTG
R:
CCCTCTTGGAAGAACTTGCCC
Band lengths:
249-432
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains