HsaINT1012290 @ hg38
Intron Retention
Gene
ENSG00000181090 | EHMT1
Description
euchromatic histone lysine methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:24650]
Coordinates
chr9:137811461-137813173:+
Coord C1 exon
chr9:137811461-137811615
Coord A exon
chr9:137811616-137813005
Coord C2 exon
chr9:137813006-137813173
Length
1390 bp
Sequences
Splice sites
5' ss Seq
CGTGTGAGT
5' ss Score
7.42
3' ss Seq
CCTTACATTTTCCCTTTTAGCCT
3' ss Score
9.82
Exon sequences
Seq C1 exon
GAGGAGAACATTTGCCTGCACTGGGCGGCGTTCTCCGGCTGCGTGGACATAGCCGAGATCCTGCTGGCTGCCAAGTGCGACCTCCACGCCGTGAACATCCACGGAGACTCGCCACTGCACATTGCCGCCCGGGAGAACCGCTACGACTGTGTCGT
Seq A exon
GTGAGTGCAGTGCTTCCCCCAGCGCGGGCTGGCGCTGACCTGACCTGGGCGCCCAGAGAGACCGCTTGACAGTCTTGTGTTCACACTTGGGGCGTGAGTGGACACAGGCCCTCTGTTCCTTCGTGTGGAAGTCCATCCTTGGTGTTCCACACGCAGAGAAGTGTCTTTCCCAGTCCACGTTTGAGATCAGCTGTGGTTTATTTCTGGGTTAGGGAGGATTGTCATGAAAAAATTCCCAAGTTGGAGTCTCAGACCTGATACTCCTCACATGGCTGAGGGGCAGCATGGGAACAGCCCTGCTCCCAGCAGGGACCTGCCAGCTCAGAGTCCCCGAGAGGCTCAGGGTGCCTTCTGGGAGCAGTGCCACCCACAGCCAGGGCTGGAGTTGCTGGGGGCTGTGGCACTCGCCACTCAGGGCCCTTTTAAAACTTGAGACCTTCAGCTGGGTGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCCGGCCATGGTGGCATGTGCCTGTAACCCCAGCTACTCCAGAGGCTGAGGCAGGCGAATCGCTTGAACCCAGGAGGCAAGAGATTGCAGTGAGTGGAGATTGCGACGCTACACTCCAACCTGGGCGACAGAGTGAGATTCTGTCTCAAAAAAAACCCAAAAAACAAAAAAAGCTTGAGACCTTGATCCCATAAAGTCATCCACACTCAGGTTGTTGTTGGTGGCCTGGGATGGAGTGTGTGTTTGGCTGCTGGGGAAGGACAGGGAACTGTGGGTGCTCCAGGCACCAGCCTCCAGTGACTCCCTGGCCCCTACACATGGGGCTGTGCCCTCCCACATGTGGATCTCACGGTGGCTCAGCCAGGTTGGTCATCTGGTTGTGTGAAGCCCAGCTCCACGTACGATGACTGCAGTCTGGATGCAGTGAGCAGGAGTGGAACTGAGGACTGCTCACGCTGTGCGTGGCCCAAGCTTGGCCTCTCTCCCTCCTTGCTTCCCTTCTTATCCTTGAGGGTAAATTTGAATGAAAAATCCAAGAAAAATCAAATGCCGCCCTGGATTTTACACTCTTCCTGCTAAGAAAACAGCCTGCTGACTTTGACAGTGAATGTGGGAGAGGAGGAAGGGAATCATGTTCCTGGGTGAGCTAAAGCCCGTCTTTGCAGAGTCATTGCTGAGCAGACTTGTTCAAGTTATCTCACAGTGAATAGTGTTCCCTTTATTGTTAGTGATGACGGACATTTTATAAATCTCATCTGTATCACATTTTCAAGTCAGCTTTAAATGTTTTGTGGCCTTACATTTTCCCTTTTAG
Seq C2 exon
CCTCTTTCTTTCTCGGGATTCAGATGTCACCTTAAAGAACAAGGAAGGAGAGACGCCCCTGCAGTGTGCGAGCCTCAACTCTCAGGTGTGGAGCGCTCTGCAGATGAGCAAGGCTCTGCAGGACTCGGCCCCCGACAGGCCCAGCCCCGTGGAGAGGATAGTGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090:ENST00000460843:19
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=0.132
Domain overlap (PFAM):
C1:
PF127962=Ank_2=PU(51.7=88.5)
A:
NA
C2:
PF127962=Ank_2=PD(47.2=73.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAACATTTGCCTGCACTGGG
R:
TGCTCACTATCCTCTCCACGG
Band lengths:
318-1708
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains