HsaEX6047991 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:63778006-63788249:-
Coord C1 exon
chr6:63788105-63788249
Coord A exon
chr6:63787119-63787169
Coord C2 exon
chr6:63778006-63778180
Length
51 bp
Sequences
Splice sites
3' ss Seq
GCTGGCCCTTTCTCTTACAGAAA
3' ss Score
11.33
5' ss Seq
TTAGTGAGT
5' ss Score
5.79
Exon sequences
Seq C1 exon
GTAGATGATCATAAAAATAAATCCATTATCGCCCCAGGAAGACTGGTTGGTCTCAATGTCTTCAGTCAGTTTTATGTAGGTGGCTACAGTGAATACACTCCAGATCTCTTACCAAATGGAGCAGATTTTAAAAATGGTTTTCAAG
Seq A exon
AAACATTAAGATTGCACACTCCTGGAAGTATGTCAACTGCCACAGTCTTTA
Seq C2 exon
GCTGTATTTTCACTCTTCAAGTTCGCACTGAGAAGGATGGCCATTTCAGAGGACTGGGAAATCCTGAGGGCCACCCAAATGCTGGACGCAGTGTTGGCCAGTGTCATGCTTCTCCCTGCAGTTTAATGAAATGTGGCAATGGTGGGACATGCATAGAGAGTGGAACTAGTGTTTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107_MULTIEX2-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.182
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=FE(36.6=100)
A:
NA
C2:
PF0221019=Laminin_G_2=PD(7.6=16.9),PF0000822=EGF=PU(61.3=32.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
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:
CAGGAAGACTGGTTGGTCTCA
R:
TCCTTCTCAGTGCGAACTTGA
Band lengths:
148-199
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains