HsaEX6046374 @ hg19
Exon Skipping
Gene
ENSG00000204371 | EHMT2
Description
euchromatic histone-lysine N-methyltransferase 2 [Source:HGNC Symbol;Acc:14129]
Coordinates
chr6:31860471-31864293:-
Coord C1 exon
chr6:31864040-31864293
Coord A exon
chr6:31860603-31860687
Coord C2 exon
chr6:31860471-31860511
Length
85 bp
Sequences
Splice sites
3' ss Seq
TGCTCCCTCTCGGCCCACAGCCC
3' ss Score
9.43
5' ss Seq
CAGGTCAGT
5' ss Score
8.94
Exon sequences
Seq C1 exon
GCCATGCCACAAAGTCATTCCCCTCTTCCCCCAGCAAGGGGGGTTCCTGTCCTAGCCGGGCCAAGATGTCAATGACAGGGGCGGGAAAATCACCTCCATCTGTCCAGAGTTTGGCTATGAGGCTACTGAGTATGCCAGGAGCCCAGGGAGCTGCAGCAGCAGGGTCTGAACCCCCTCCAGCCACCACGAGCCCAGAGGGACAGCCCAAGGTCCACCGAGCCCGCAAAACCATGTCCAAACCAGGAAATGGACAG
Seq A exon
CCCCCGGTCCCTGAGAAGCGGCCCCCTGAAATACAGCATTTCCGCATGAGTGATGATGTCCACTCACTGGGAAAGGTGACCTCAG
Seq C2 exon
ATCTGGCCAAAAGGAGGAAGCTGAACTCAGGAGGTGGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204371-'3-10,'3-9,6-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.992 C2=1.000
Domain overlap (PFAM):
C1:
PF031538=TFIIA=PU(36.4=97.6)
A:
PF031538=TFIIA=FE(12.3=100)
C2:
PF031538=TFIIA=FE(5.7=100),PF0334410=Daxx=PU(0.1=0.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
TACTGAGTATGCCAGGAGCCC
R:
CACCTCCTGAGTTCAGCTTCC
Band lengths:
167-252
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)