HsaINT0054736 @ hg19
Intron Retention
Gene
ENSG00000181090 | EHMT1
Description
euchromatic histone-lysine N-methyltransferase 1 [Source:HGNC Symbol;Acc:24650]
Coordinates
chr9:140676743-140678845:+
Coord C1 exon
chr9:140676743-140676849
Coord A exon
chr9:140676850-140678557
Coord C2 exon
chr9:140678558-140678845
Length
1708 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCGG
5' ss Score
9.13
3' ss Seq
AAGAAATTTATTTCTCACAGTTC
3' ss Score
4.9
Exon sequences
Seq C1 exon
TGGACGGAATTGACCCCAACTTCAAAATGGAGCACCAGAATAAGCGCTCTCCACTGCACGCCGCGGCAGAGGCTGGACACGTGGACATCTGCCACATGCTGGTTCAG
Seq A exon
GTGCGGCGGCACGGCGCCCTCCTAGGGCTCTTCACCTGCTCTCTTTTATTTTTACCAAAGTAAAATCATACCACGTTCGCGGTTCTTCCAGTGTAAGAGTTCCGTAGTGCTGTGAATCGGGCACAGAGTCAGCTTTTCTGCCCCCGAGTCCTGCAGGTGGATCAGTGCTTCCCGCTGTTTCTTCCGGCATTTACCACGGCCTTTGAGAAGAGCATGCCGCCATTTGGCTGTTTCTTGATTTGCTTTCTTTGGTTTTGGTTTTGGTTCTTCACACTCATGACGTCCCTCTGGGGGAGCCAAGCACTCGCAGAGGCACGGACGCCCCTCCCCCAGCCCCGTTGACTGGCTCCCATTTTGTTTAGATCAGATCGTGTGAGCATTTTCAAGCTGAACCACGTCGTCTACAGGGTATGTTGTGTCTGTCGTTAATCACTGGCTTGTGTTTCTGTTGGTTGAGTTGACTCTGCCACCTGCTAATTTATTCTGAACCATCTGAACGCTGCCCGCTTGTCTCTGGGTTCAGACACACGACGCTGTTTGTCCCCCTGTGACGCCCCTTCCCTGATCCCGGTGTTGGATCCCCTGTTTCTCAAGTGCCAGGTTTGAGTCTGGTGCAGTCTGACTTCTGATCCTTTGTGTGTGACCTATTATTTCTGGAGACTTTAGGAACTTTCCTTGAACCCCACTGGTCTGAAGTTGTACCTCATTGTAATGTGGGTCTTTTTAGATCCACTGGGGCATTTGGTGCATGTGCTGTGCCCTTTCAGTGCAGAAATCCACACCTGTCAGTTCTAGGAGGATTTCCTGTGTGACTTCTGTGCCCAGGTCTTCTACCTGTCTCAGCTCTGTCCTGGGACTCTCATAACTCAGGTGTGGAACCTTCCAGACCGATTTCCTGCCGTGGTCTGTTTTCTTGTCTTTTGGTTCTGCCTTCTAGGCAGCATTCTCACCTTCAGCTTCCAGCTCCTGGGGGATTCTTAACATGTGTGGTCACATTTTCAAATCCCAGTAATTCCTTTCTGCTCTTAGATAGTTCCTCTTTCAGTAGCCTCTTTTTCTTCCCTTATTTCTCTGATGGTATTATGGTTATTTTGAAGTTTTATGCTGCTGTGTTTTAGTTTTTCTTATCTAAAGGTTTTCCTCAAATGCCCAGTGATTCTCGTTTATATTTAAAGTAAACTACTGAAAAGCTGGTGGTAGCTCTTGCTTGCCGGGGGCTTGTCAGCTGTAGGGTGATCTGCAGGCCTGGCTGTTTTGTTGGGGCCCCCAGGCCCCACTGTCTGGGAAGGACCTGTCTTCTCGGACTGCACCTGTCTCTGCCTTTCTTAGGGCCAAGAAGGAGAGAGCGACGGGGCGCACCGTCTGCTGTGCCCACACTCACCCGCTGTCCAGCTGCCTCAGTCTGTCCCCCGTTTCCGGAGTCATAACTGATGGTGTTTTGTTACTATTTGCCTGGAATGATTTTTCCCTCCTTTTATTCTGACCTTTTCCCTCGTTTTTGGATATATGTATTTTAAACGTAGAACTTGATTTTTATAAATTTAGTCTAACAGTCTTGGTATTTTAATAGGAACTTTTAGTCCTTTATTTATACCTAATGTCTTATATTGTAGTTTTAATTTCTAGCTGTCTTAGTCCATTTTCTCTAGCTATAAGAGAATACTTGAGACCGGGTCATTTATAAAGAAAAGAAATTTATTTCTCACAG
Seq C2 exon
TTCTGCAGGCTGGGAAGCCCAAGGTCGAGGGGCTGCCTTTGGTGACTTATGGTGAGGACCTCGTGCTGTTCCCGAACACAGCCAGGAACCACGCCAAGAGGAAGATGCTCCAGCACAGCCTTGCTGTGGACCAGGCCGCCCACAGGGAGCAGGTCCATTCCTGGGGGCTGACTCCGCCTTTCAGAGAGGCGTGGCTCCATCTTCACAGCCTCGTAGCCTCTTAAAGGCCCAGCCTCAAAACCTCATTGGGGCCCCCAGCCCCGGTAAATAAATTGCATTCAGACCATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090-EHMT1:NM_001145527:15
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.422 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF127962=Ank_2=FE(36.8=100)
A:
NA
C2:
PF127962=Ank_2=PD(6.0=33.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACGGAATTGACCCCAACTT
R:
AATGAGGTTTTGAGGCTGGGC
Band lengths:
353-2061
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)