Special

HsaINT0054740 @ hg38

Intron Retention

Gene
Description
euchromatic histone lysine methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:24650]
Coordinates
chr9:137743371-137744090:+
Coord C1 exon
chr9:137743371-137743528
Coord A exon
chr9:137743529-137743901
Coord C2 exon
chr9:137743902-137744090
Length
373 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
TACACCTGCCCGTGTTCTAGGGG
3' ss Score
8.41
Exon sequences
Seq C1 exon
CTTGCTTGCCTTTTGTTTTAGCAGCTGCAGTATCTCGGAAGAAAAAACGAAGAATGGGAACCTATAGCCTGGTTCCTAAGAAAAAGACCAAAGTATTAAAACAGAGGACGGTGATTGAGATGTTTAAGAGCATAACTCATTCCACTGTGGGTTCCAAG
Seq A exon
GTAAGAGACGCATTTGAGTGAGTTGCCACGTGTGCGTGGAAATGCGTTTCTGTGTTCAGGGCCTCGTTATCAGTAATTTGGGTGACCTCAGTCCCCGGGAAGGTGCCAGTGCCATGAAGCTCCTCTGCCATAGGGGCAGAGTGTTCGTGTCCAAGATCATTGTGGGGGACTCCACCCCGTCCTCCCTGCCCTCCTCACCACAGCCCACCTGTCTGCCGGGCTCTTCTCCAGGTGGCAGGGGCACCTCTTCGTGTGTCCCCGCCTCCCCACAGGCCCTTGCACCTCCCAGTCACCCAAGACTCCTCAGTGAAAGCAAGTTTGTTCATGATGCGCACTGATCCTGCCTTGGGGTATACACCTGCCCGTGTTCTAG
Seq C2 exon
GGGGAGAAGGACCTGGGCGCCAGCAGCCTGCACGTGAATGGGGAGAGCCTGGAGATGGACTCGGATGAGGACGACTCAGAGGAGCTCGAGGAGGACGACGGCCATGGTGCAGAGCAGGCGGCCGCGTTCCCCACAGAGGACAGCAGGACTTCCAAGGAGAGCATGTCGGAGGCTGATCGCGCCCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090:ENST00000460843:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.452 A=NA C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTGCCTTTTGTTTTAGCAGCT
R:
CTTCTGGGCGCGATCAGC
Band lengths:
344-717
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