HsaINT1012313 @ hg38
Intron Retention
Gene
ENSG00000204371 | EHMT2
Description
euchromatic histone lysine methyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:14129]
Coordinates
chr6:31882894-31883439:-
Coord C1 exon
chr6:31883362-31883439
Coord A exon
chr6:31883010-31883361
Coord C2 exon
chr6:31882894-31883009
Length
352 bp
Sequences
Splice sites
5' ss Seq
AAGGTGCGT
5' ss Score
9.49
3' ss Seq
TCCTCCCCTCCGCACCCTAGGAT
3' ss Score
8.93
Exon sequences
Seq C1 exon
CACTGCACGTGTGTGGACGACTGCTCTAGCTCCAACTGCCTGTGCGGCCAGCTCAGCATCCGGTGCTGGTATGACAAG
Seq A exon
GTGCGTGCCCCTTGCCTTGGCCACAGACACCCGGCCCCTCCTTCAGAGGAGCCAGCCTCCAATAAACCAGCTCCCTGGGACCATGTCCCTCACCTCCTACCCTGTGGGGGAAGTGACTGAGAGGACTGGGCAAGGCCTGGGAATCCTGGGATGTGGCTGGGACAGCGATGGGCGTGTGCCCAGGTCTATGCAAACCAGGGATGATGCTCCTGCATTTCGTGCTCTCGGATCTCAGAGCCTGTGTGACCTCCCCAACCCCAACTTCCCTGTCTCTGTAGAGTCTTGGGGTTCCTGGGTGGGCAGCTGAGGTGGGCCCCACAGAGAAACCACTATCCTCCCCTCCGCACCCTAG
Seq C2 exon
GATGGGCGATTGCTCCAGGAATTTAACAAGATTGAGCCTCCGCTGATTTTCGAGTGTAACCAGGCGTGCTCATGCTGGAGAAACTGCAAGAACCGGGTCGTACAGAGTGGCATCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204371:ENST00000375537:23
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0503311=Pre-SET=FE(23.6=100)
A:
NA
C2:
PF0503311=Pre-SET=PD(29.2=79.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCACGTGTGTGGACGAC
R:
TGATGCCACTCTGTACGACCC
Band lengths:
191-543
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains