HsaEX0021872 @ hg38
Exon Skipping
Gene
ENSG00000181090 | EHMT1
Description
euchromatic histone lysine methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:24650]
Coordinates
chr9:137800880-137811615:+
Coord C1 exon
chr9:137800880-137800984
Coord A exon
chr9:137803244-137803352
Coord C2 exon
chr9:137811461-137811615
Length
109 bp
Sequences
Splice sites
3' ss Seq
ACTTTATTGCTGTATAATAGGTA
3' ss Score
7.68
5' ss Seq
CAGGTGATC
5' ss Score
4.28
Exon sequences
Seq C1 exon
GATGACGGAGGCTGGACACCCATGATCTGGGCCACAGAGTACAAGCACGTGGACCTCGTGAAGCTGCTGCTGTCCAAGGGCTCTGACATCAACATCCGAGACAAC
Seq A exon
GTAGGCTGCATATATTCAAAGTACACACTTGGGTGAATTTTCACCCAGAAGCCATTGTTGCTGTCGGAAGAGTGAGCCCAGTCCTCCCTCATGCCCTGATGATCTTCAG
Seq C2 exon
GAGGAGAACATTTGCCTGCACTGGGCGGCGTTCTCCGGCTGCGTGGACATAGCCGAGATCCTGCTGGCTGCCAAGTGCGACCTCCACGCCGTGAACATCCACGGAGACTCGCCACTGCACATTGCCGCCCGGGAGAACCGCTACGACTGTGTCGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090_MULTIEX1-28/38=26-29
Average complexity
S
Mappability confidence:
97%=97=100%
Protein Impact
ORF disruption upon sequence inclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.018 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PD(35.1=94.3)
A:
NO
C2:
PF127962=Ank_2=PU(51.7=88.5)


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:
GAGGCTGGACACCCATGATCT
R:
GACACAGTCGTAGCGGTTCTC
Band lengths:
251-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development