HsaEX1012823 @ hg38
Exon Skipping
Gene
ENSG00000181090 | EHMT1
Description
euchromatic histone lysine methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:24650]
Coordinates
chr9:137777882-137779717:+
Coord C1 exon
chr9:137777882-137778055
Coord A exon
chr9:137778240-137778290
Coord C2 exon
chr9:137779635-137779717
Length
51 bp
Sequences
Splice sites
3' ss Seq
TACTGTCCTCTGCATTATAGTAA
3' ss Score
4.94
5' ss Seq
TTGGTGAGC
5' ss Score
7.43
Exon sequences
Seq C1 exon
TGCTGCCGGGCCACCACTCTCGGAGGACGACAAGCTGCAGGGTGCAGCCTCCCACGTGCCCGAGGGCTTTGATCCAACGGGACCTGCTGGGCTTGGGAGGCCAACTCCCGGCCTTTCCCAGGGACCAGGGAAGGAAACCTTGGAGAGCGCTCTCATCGCCCTCGACTCGGAAAA
Seq A exon
TAAGAGCAACCTCTGACACCTTTGAAGTCCTAAGTGAGGAGGCAGGTCTTG
Seq C2 exon
ACCCAAGAAGCTTCGCTTCCACCCAAAGCAGCTGTACTTCTCCGCCAGGCAAGGGGAGCTTCAGAAGGTGCTCCTCATGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090_MULTIEX1-18/38=17-20
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.946 A=1.000 C2=0.138
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PU(15.7=22.0)
A:
NO
C2:
PF127962=Ank_2=PU(18.1=58.6)
Main Inclusion Isoform:
ENST00000460843fB14591
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
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:
GAGGGCTTTGATCCAACGGG
R:
ACAGCTGCTTTGGGTGGAAG
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