HsaEX1013691 @ 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
chr6:65302808-65303119
Coord C2 exon
chr6:65295863-65296119
Length
312 bp
Sequences
Splice sites
3' ss Seq
TTGCTTTATATTGACTGCAGGTT
3' ss Score
6.97
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
Exon sequences
Seq C1 exon
ATTTGTGCAAATGGATGCAGTTGTTTGAGTGAAGAAGACAGTCAGGAATATCGGTATCTATGTTTTCTCAGATGGGCTGGCAACATGTATCTGGAAAATACAACTGATGATCAAGAAAATGAGTGTCAACATGAAGCTGTTTGTAAAGATGAAATTAATAGACCCAG
Seq A exon
GTTTCCGGACAGAAGTCACTCGTAATCCATTGTGAACTTCAGGAGTTGGTTGCAGGGTAGGTGTTTTGGTTTCATCACCTTCCTCAGAAAACTGATCATCATCATCTTCATCATCATCTGCAGCATTAATTACAACTGGTGGATGCTTGGGGCTAGGAACATTTTCGGAACTTTCTACTTTCATAACGCTCCGCAGCTGAGGGGAAGGATTGGACTGGACAGACAATTTGTTCTGCTGAACTGAAAGTTGGCTAGCCTTCACTTCCTCTTCTGGTGACTCAGGCACAGTGGGCAACACACTTTTGCTCGGAG
Seq C2 exon
ATGCAGCTGTTCTCTTAGTTACATTGGCAGATTGTGTGTTGTCAATGTTGACTATTGCTTAGGGAACCACAGTATATCAGTGCATGGCCTCTGCCTGGCCCTTTCGCACAATTGTAACTGTAGCGGTCTGCAAAGATATGAAAGGAACATCTGTGAGATAGATACTGAAGACTGCAAATCTGCGTCCTGCAAAAATGGAACAACTAGTACACATTTAAGGGGATATTTCTTCCGCAAGTGTGTCCCAGGATTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188107_MULTIEX1-1/2=C1-C2
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=0.500 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=PU(61.3=33.9)
A:
NO
C2:
PF0000822=EGF=PD(35.5=12.6)
Main Inclusion Isoform:
ENST00000370621fB15157
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCTCAGATGGGCTGGCAAC
R:
GGGACACACTTGCGGAAGAAA
Band lengths:
350-662
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains