HsaEX1013686 @ hg38
Exon Skipping
Gene
ENSG00000188107 | EYS
Description
eyes shut homolog (Drosophila) [Source:HGNC Symbol;Acc:HGNC:21555]
Coordinates
chr6:64813378-64821723:-
Coord C1 exon
chr6:64821645-64821723
Coord A exon
chr6:64817732-64817765
Coord C2 exon
chr6:64813378-64813577
Length
34 bp
Sequences
Splice sites
3' ss Seq
ATGAGTCATGTCCTTCACAGCAA
3' ss Score
5.89
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
GTGCACAGAACTTATTAATGAATATCCATGTTCATGTGATGCAGATGGGACTAGCACACAATGTAAGATCAAAATTAAT
Seq A exon
CAACATGGATGCAGCTGGAGGCCATAAAACTAAG
Seq C2 exon
GACTGCACATCAATCCCTTGTATGAATGAAGGCTTCTGTCAGAAGTCAGCACATGGATTTACTTGCATTTGCCCACGTGGATACACTGGTGCATACTGTGAAAAAAGCATTGATAATTGTGCTGAGCCTGAACTTAATTCAGTCATCTGTCTTAATGGAGGGATCTGTGTTGATGGGCCTGGACATACTTTTGACTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107-'59-74,'59-73,60-74
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PU(5.7=7.4)
A:
NO
C2:
PF0000822=EGF=PD(88.6=46.3),PF0000822=EGF=PU(73.0=40.3)
Main Inclusion Isoform:
ENST00000370621fB15152
Other Inclusion Isoforms:
NA
Associated events
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:
TGCAGATGGGACTAGCACACA
R:
TATCCACGTGGGCAAATGCAA
Band lengths:
123-157
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains