Special

HsaEX6046390 @ hg38

Exon Skipping

Gene
Description
euchromatic histone lysine methyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:14129]
Coordinates
chr6:31879759-31881092:-
Coord C1 exon
chr6:31881014-31881092
Coord A exon
chr6:31880673-31880848
Coord C2 exon
chr6:31879759-31880264
Length
176 bp
Sequences
Splice sites
3' ss Seq
GTGCCATCCCCCTGCCCCAGGAT
3' ss Score
7.24
5' ss Seq
AGGGTGAGA
5' ss Score
6.65
Exon sequences
Seq C1 exon
GTATGTCGGGGAGCTGATCTCTGATGCTGAGGCTGATGTGAGAGAGGATGATTCTTACCTCTTCGACTTAGACAACAAG
Seq A exon
GATGGAGAGGTGTACTGCATAGATGCCCGTTACTATGGCAACATCAGCCGCTTCATCAACCACCTGTGTGACCCCAACATCATTCCCGTCCGGGTCTTCATGCTGCACCAAGACCTGCGATTTCCACGCATCGCCTTCTTCAGTTCCCGAGACATCCGGACTGGGGAGGAGCTAGG
Seq C2 exon
GTTTGACTATGGCGACCGCTTCTGGGACATCAAAAGCAAATATTTCACCTGCCAATGTGGCTCTGAGAAGTGCAAGCACTCAGCCGAAGCCATTGCCCTGGAGCAGAGCCGTCTGGCCCGCCTGGACCCACACCCTGAGCTGCTGCCCGAGCTCGGCTCCCTGCCCCCTGTCAACACATGAGAACGGACCACACCCTCTCTCCCCAGCATGGATGGCCACAGCTCAGCCGCCTCCTCTGCCACCAGCTGCTCGCAGCCCATGCCTGGGGGTGCTGCCATCTTCTCTCCCCACCACCCTTTCACACATTCCTGACCAGAGATCCCAGCCAGGCCCTGGAGGTCTGACAGCCCCTCCCTCCCAGAGCTGGTTCCTCCCTGGGAGGGCAACTTCAGGGCTGGCCACCCCCCGTGTTCCCCATCCTCAGTTGAAGTTTGATGAATTGAAGTCGGGCCTCTATGCCAACTGGTTCCTTTTGTTCTCAATAAATGTTGGGTTTGGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204371-'48-59,'48-58,49-59
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.017
Domain overlap (PFAM):

C1:
PF0085623=SET=FE(24.3=100)
A:
PF0085623=SET=FE(54.2=100)
C2:
PF0085623=SET=PD(3.7=6.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTGAGGCTGATGTGAGAGA
R:
GGTGTGGTCCGTTCTCATGTG
Band lengths:
250-426
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains