HsaEX0021869 @ hg38
Exon Skipping
Gene
ENSG00000181090 | EHMT1
Description
euchromatic histone lysine methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:24650]
Coordinates
chr9:137710967-137743528:+
Coord C1 exon
chr9:137710967-137711030
Coord A exon
chr9:137716626-137717182
Coord C2 exon
chr9:137743392-137743528
Length
557 bp
Sequences
Splice sites
3' ss Seq
ACTCGTTTCTTTGTTGGCAGAGA
3' ss Score
6.47
5' ss Seq
CTGGTAATT
5' ss Score
5.99
Exon sequences
Seq C1 exon
GCAGTTCCGGCGAGGGGGGAGCCTCAGCAGGATTGCTGTGTGAAAACCGAGCTGCTGGGAGAAG
Seq A exon
AGACACCTATGGCTGCCGATGAAGGCTCAGCAGAGAAACAGGCAGGAGAGGCCCACATGGCTGCGGACGGTGAGACCAATGGGTCTTGTGAAAACAGCGATGCCAGCAGTCATGCAAATGCTGCAAAGCACACTCAGGACAGCGCAAGGGTCAACCCCCAGGATGGCACCAACACACTAACTCGGATAGCGGAAAATGGGGTTTCAGAAAGAGACTCAGAAGCGGCGAAGCAAAACCACGTCACTGCCGACGACTTTGTGCAGACTTCTGTCATCGGCAGCAACGGATACATCTTAAATAAGCCGGCCCTACAGGCACAGCCCTTGAGGACTACCAGCACTCTGGCCTCTTCGCTGCCTGGCCATGCTGCAAAAACCCTTCCTGGAGGGGCTGGCAAAGGCAGGACTCCAAGCGCTTTTCCCCAGACGCCAGCCGCCCCACCAGCCACCCTTGGGGAGGGGAGTGCTGACACAGAGGACAGGAAGCTCCCGGCCCCTGGCGCCGACGTCAAGGTCCACAGGGCACGCAAGACCATGCCGAAGTCCGTCGTGGGCCTG
Seq C2 exon
CAGCTGCAGTATCTCGGAAGAAAAAACGAAGAATGGGAACCTATAGCCTGGTTCCTAAGAAAAAGACCAAAGTATTAAAACAGAGGACGGTGATTGAGATGTTTAAGAGCATAACTCATTCCACTGTGGGTTCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090_MULTIEX1-7/38=6-9
Average complexity
C3*
Mappability confidence:
98%=100=98%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.995 A=0.965 C2=0.549
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGAGCCTCAGCAGGATT
R:
TGGAACCCACAGTGGAATGAG
Band lengths:
184-741
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development