HsaINT0054733 @ hg19
Intron Retention
Gene
ENSG00000181090 | EHMT1
Description
euchromatic histone-lysine N-methyltransferase 1 [Source:HGNC Symbol;Acc:24650]
Coordinates
chr9:140671070-140672507:+
Coord C1 exon
chr9:140671070-140671296
Coord A exon
chr9:140671297-140672333
Coord C2 exon
chr9:140672334-140672507
Length
1037 bp
Sequences
Splice sites
5' ss Seq
CAGGTACCT
5' ss Score
8.16
3' ss Seq
CCCGATTTCCTCCCCTGAAGTGC
3' ss Score
4.29
Exon sequences
Seq C1 exon
GGTAATTTTATGGAGTGTCAGCCCGAGAGCAGCATCTCTCACCGTTTCCACAAAGACTGTGCCTCTCGAGTCAATAACGCCAGCTATTGTCCCCACTGTGGGGAGGAGAGCTCCAAGGCCAAAGAGGTGACGATAGCTAAAGCAGACACCACCTCGACCGTGACACCAGTCCCCGGGCAGGAGAAGGGCTCGGCCCTGGAGGGCAGGGCCGACACCACAACGGGCAG
Seq A exon
GTACCTGGCACAGGCTCTGGCTGGGCTCTCCAGTCGTCCACCTGAAAAAGTTTCAGTTGTTAACTCAACGTTATTGCTTCCTGCTGTTTTTTCCAGAAGTCTCTGAGCTGATGCTGATGCTTATGGTGATTTCTGACATTTAAGACTCTGAAATTCATTTATTGCCATTTGTGCATACGTTGCTCTCTTTCGGTTTGGTTATGTAGATCCATTTGCCTGTTTTGAACCGGTTTTCACAGCACCCCCATTGATGTAGCTCTGTGGTGTTTCTGTTGATGGCACAGTCCTGTTGGTACACAAGCGATAGACGAGTGGTGGCTGCTGCAGTCTGTGACCGAGTTCTGTGGTATTAAGGTTTGAAGGCCTTAGCTGAAGACAAAAAAGTCTAAAATAATTAGAAGTGTTCATATTAGACAGATACAATTGTCTTCCTGAAAGAGTCCAGTAGAAACAGCTGAAAAATTTTTAGAGCTCAAAAGAGTCAGTAAGAGGATCTGATAAGAAGAGATAGAAGCCACTTGCCTTCTTCCTTAGCAGCAGTTCCCTGCCTGAGAATAAAATAACAAAAGAGACCCTTTCAAAACAGCAACAAAACTTGTTACTACCCAGCAGAACAAAGAACTTAAATGTGACACTAATATAAAGAAAATAAACTTCCTTGAAGATTATTTAAAAGAGACTCAAATTGTGGACATGTTAAGGTGATTCCTTCCTATTAACCTGTAAATTTAATGCACTTTGAATCAAAATTCCAGTGGGATTTCCTTTTGTTGGGGTGGGCAGTGGACTTGATAGATTCAGCTTGAAGCTCATTCATGAGAGTGTATTTGAACACGCTGCCCAGAAGTCTAGGAAAAGTTGCCCTAGTTTTCTCAGGAAATTTGGTTCTGAATCCTGAACCGTTAAATCCAGGGACTAAGCGGACAGTAAGCAAATCCGCAGCTCTCACTTAGAAAACAGCGCTCTCGGGCAGTCAGAGTCGGAACAGGCCATGTTTCGTGTTTTCATAAACCTTTCCCCGATTTCCTCCCCTGAAG
Seq C2 exon
TGCTGCCGGGCCACCACTCTCGGAGGACGACAAGCTGCAGGGTGCAGCCTCCCACGTGCCCGAGGGCTTTGATCCAACGGGACCTGCTGGGCTTGGGAGGCCAACTCCCGGCCTTTCCCAGGGACCAGGGAAGGAAACCTTGGAGAGCGCTCTCATCGCCCTCGACTCGGAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090-EHMT1:NM_001145527:12
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.474 A=NA C2=0.938
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF127962=Ank_2=PU(15.7=22.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCAGCATCTCTCACCGTTTC
R:
TCCAAGGTTTCCTTCCCTGGT
Band lengths:
344-1381
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)