HsaINT1012312 @ hg38
Intron Retention
Gene
ENSG00000204371 | EHMT2
Description
euchromatic histone lysine methyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:14129]
Coordinates
chr6:31883362-31883950:-
Coord C1 exon
chr6:31883806-31883950
Coord A exon
chr6:31883440-31883805
Coord C2 exon
chr6:31883362-31883439
Length
366 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
CCTCTGCCTCCTCGCCCCAGCAC
3' ss Score
7.68
Exon sequences
Seq C1 exon
GGACGTGGCTCGGGGCTATGAGAACGTGCCCATTCCCTGTGTCAACGGTGTGGATGGGGAGCCCTGCCCTGAGGATTACAAGTACATCTCAGAGAACTGCGAGACGTCCACCATGAACATCGATCGCAACATCACCCACCTGCAG
Seq A exon
GTGAGTAGGGGGCCCGGGGCCTCCCCAAAAGGACACCGAGAGCTGCCAAGTACAGTTGGACAAGCTTCAAACCAGCAAAGGCACCTGGCCAAGGAAGGGTTGGCTGAAAGGGAGCCCTGGTGTGGGGTCGCATCCCCACCAGGGGAGGGATCCTTTTCCTAGGTCACAGCAAGGTATCATATGAGCTCCCAGTAGCCCTGGGGACACCACCATACTGATTACCCGTCACCCTAGGACCATCACCACCCACTGTTGTAACACATGGACCCCAAAGAAAGGACAGTGGTTAGGGGGTCAGGGGGCATCAAGAGTAGAGGGGCCCAGACCGATCATGGGGTTGAGCTGACCTCTGCCTCCTCGCCCCAG
Seq C2 exon
CACTGCACGTGTGTGGACGACTGCTCTAGCTCCAACTGCCTGTGCGGCCAGCTCAGCATCCGGTGCTGGTATGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204371:ENST00000375537:22
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.003 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0503311=Pre-SET=PU(44.3=95.9)
A:
NA
C2:
PF0503311=Pre-SET=FE(23.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACGTGGCTCGGGGCTAT
R:
CTTGTCATACCAGCACCGGAT
Band lengths:
222-588
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains