HsaINT0054734 @ hg38
Intron Retention
Gene
ENSG00000181090 | EHMT1
Description
euchromatic histone lysine methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:24650]
Coordinates
chr9:137777882-137779717:+
Coord C1 exon
chr9:137777882-137778055
Coord A exon
chr9:137778056-137779634
Coord C2 exon
chr9:137779635-137779717
Length
1579 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGA
5' ss Score
6.91
3' ss Seq
TTGTCTTGTGCTTCCCACAGACC
3' ss Score
11.17
Exon sequences
Seq C1 exon
TGCTGCCGGGCCACCACTCTCGGAGGACGACAAGCTGCAGGGTGCAGCCTCCCACGTGCCCGAGGGCTTTGATCCAACGGGACCTGCTGGGCTTGGGAGGCCAACTCCCGGCCTTTCCCAGGGACCAGGGAAGGAAACCTTGGAGAGCGCTCTCATCGCCCTCGACTCGGAAAA
Seq A exon
GTAAGACCTGACATGTGATTTCAGAGATGTCTCAGAGCCTGTTTTAATCTGCACCCCGCGTTTTTCCCCATGGTGTCACTTTAGCACTTCTCAGCTTTTTGATTAATGCTGTTCGTTAGAATAATTCGTATATTTTCACACTATTTTGGGAAATTATTGTAAATTACTGTCCTCTGCATTATAGTAAGAGCAACCTCTGACACCTTTGAAGTCCTAAGTGAGGAGGCAGGTCTTGGTGAGCTTTGACAAACATTTCCTGGTTGCTGTTGGCCCTGAGCTGCCCTTAGGTCATGAGAGCAGACACTGCTTCTGCTGCCTTGACTCCGTTTCCCTCCCAGGCCACACCCCATCTGTGCAATGCGAGGGTTGGGCCAAGGGGCCCTCCAGGCTTTCCCGACAGCTCACAAAAACCCACCCCTCCTCGTCCTCCTCTCAGCATTGCCCCACCAGGGAGGCAGACCAGACTGTGGCAGTGAGGCTTGCGGTGCCTCCTCCCTGGATCTCCCCTCTGTCTGCCTCCAGCCTCGCCTCTGAGCCTGCTCTTGAAGCGACGGTACCATCTGCTGACGCCAACAGGCCCTGCTCGCTGACCAGACCCCAGACTGTTCCTGACCCACAGGCTCTGCTCGCTGACCAGACCCCAGACTGTTCCTGACCCCACTCTCTCCCCCATCCCTTGGTGATTGTGTTAGTCTGCTTTTGTGTCAATATAAAGAAATGCCCAGGGCTGGATGATTTATATAGAAAAGAGGCTTAATTGGCTCACGGTTCTCCAGACTGTACAGGAAGCATGGTGCTGGCATCTGCTCCTTGGGAGGCCTCAGGAAGCTACAGTCATGGTGGAAGGCAAAGCAGGAGCAGTAGCAAGAGACAGAGAAGGGGGAGGCTCCCAGACTCTTAAGCGACCAGATCTTGTGGGAACTGACTGAGCGGGAACTCACTCATCACCAGGGGGAGGGATGACACTAAGCCATTCATGAGGGATCTGCCTCCAGGATCCAGTCACCTTCTACCAGGTCTCACCTCCAACACTGGAGGTCACATTTCAACGTGAGTTTTGGGAGGGACAGAGGTCCACACCATATCAGTTATCAGCTTAGTCATCGAGTTAAGGTTTCAGAGCAAAAGTGCCAGTGTTCCCAGCTCTCACCGCCCAGGACATCTTCTGTAGTGCGAGCTGTGCCCTCACTCGTGACCACGCTGTGTGGGCTCATCCTGGCTGGGGCTGGTCCCGGCTGTGCTGAGCGTAGATGAGGTTCCCCTGCATCCTGCGCTGGTTCTGTCGTCGTGTTGTGTAAAAGCCTCACAGTGCGTAGTGTTCTCCTGCGGTGACTGGGAACGCAGTTTCTTGTCCGCAGTTTTTACCATGAGATATCTCGACTGGTGGGTTTGCACTTGAGCTTGTGGGGCTGGTGGGCAGACGTCTGCCGGGCCTTCCAGCCTTCAGCTTCATGTGTGGGACGCGGAGCCCCATGAGCTTGAGGGGCTGGTGGGGAGATGTCCGCCGGGCCTTCCAGCCTTCAGCTTCATGTGTGGGATGCAGAGCCCCATGCTGACTGTTGTCTTGTGCTTCCCACAG
Seq C2 exon
ACCCAAGAAGCTTCGCTTCCACCCAAAGCAGCTGTACTTCTCCGCCAGGCAAGGGGAGCTTCAGAAGGTGCTCCTCATGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090:ENST00000460843:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.946 A=NA C2=0.138
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PU(15.7=22.0)
A:
NA
C2:
PF127962=Ank_2=PU(18.1=58.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCACCACTCTCGGAGGAC
R:
GAGCACCTTCTGAAGCTCCC
Band lengths:
238-1817
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