HsaEX6047961 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:65295863-65335146:-
Coord C1 exon
chr6:65334980-65335146
Coord A exon
chr6:65300847-65300938
Coord C2 exon
chr6:65295863-65296119
Length
92 bp
Sequences
Splice sites
3' ss Seq
TCTTTTATCTGTGCGAACAGCCT
3' ss Score
6.13
5' ss Seq
AAGGTAACA
5' ss Score
8.92
Exon sequences
Seq C1 exon
ATTTGTGCAAATGGATGCAGTTGTTTGAGTGAAGAAGACAGTCAGGAATATCGGTATCTATGTTTTCTCAGATGGGCTGGCAACATGTATCTGGAAAATACAACTGATGATCAAGAAAATGAGTGTCAACATGAAGCTGTTTGTAAAGATGAAATTAATAGACCCAG
Seq A exon
CCTGTTCCATTCTTGAGCAATACACAGAGCCCAGGGATGTGGTGCAATACTACAGAGGAGAAATTAAGTAAAAATCTACTCCCAAAACAAAG
Seq C2 exon
ATGCAGCTGTTCTCTTAGTTACATTGGCAGATTGTGTGTTGTCAATGTTGACTATTGCTTAGGGAACCACAGTATATCAGTGCATGGCCTCTGCCTGGCCCTTTCGCACAATTGTAACTGTAGCGGTCTGCAAAGATATGAAAGGAACATCTGTGAGATAGATACTGAAGACTGCAAATCTGCGTCCTGCAAAAATGGAACAACTAGTACACATTTAAGGGGATATTTCTTCCGCAAGTGTGTCCCAGGATTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107_MULTIEX1-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PU(61.3=33.9)
A:
NA
C2:
PF0000822=EGF=PD(35.5=12.6)
Main Inclusion Isoform:
NA
Other Inclusion 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
(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:
TTTCTCAGATGGGCTGGCAAC
R:
TGTGGTTCCCTAAGCAATAGTCA
Band lengths:
175-267
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains