Special

HsaINT1012294 @ hg38

Intron Retention

Gene
Description
euchromatic histone lysine methyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:24650]
Coordinates
chr9:137815947-137817525:+
Coord C1 exon
chr9:137815947-137816062
Coord A exon
chr9:137816063-137817438
Coord C2 exon
chr9:137817439-137817525
Length
1376 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
CACTACTCTCTATTTTTCAGGGC
3' ss Score
9.74
Exon sequences
Seq C1 exon
GATGGCCGGCTCCTGCCAGAGTTCAACATGGCGGAGCCTCCCTTGATCTTCGAATGCAACCACGCGTGCTCCTGCTGGAGGAACTGCCGAAATCGCGTCGTACAGAATGGTCTCAG
Seq A exon
GTGAGAGGCAGCTTCCTGCCGGAGCCCCACATTCTGCTCGTATTAGCACGTATTAGCACGGAGGTCACCCCGACAGACAAGAACTTAACGTGTTTGGATGCACGCACATGTGTGTTTGCAGATAGAGCCGACAAGTTACCTGAGCCCTTTATCCTCTAGAAATGTCACTTGTGCCATAAATCACGAGTCATGCTTCCCCCAGCACAGACTTCGGCATGAGAGAAGGAGCAGGTTGTTGGGTCAGTCCAGCTAAAAGCAGAGGAACGGACTTGGCCTAAGAATTACCTTTGTTACCGAGTTCATGCGAACATTCTTCAACAGGTTAGGGCTGTCGTAGTTCTATTTTAATACTCCAGTCATTTTCTAAATATTCTCTGTTCTCTGGGCTTCCCTAACAGTGAGGTGATGTCCCAACGCTTCTCAGGCTGCGTGGACTCCTTGTTCCTGGGTTGCTCAGGACGCTCATGGAGTAAGGCTTGCCCAGCGCCCTTCCCCAGCTGGGCTTGGTCCCCTGACCGCCCAGCAGCTGCGTCTCCTTTCCCTGGATTCTGGTCTTGAGCATTTCCTCCGCAAATGTGCCCGAGATTGGAGAAGTCAAAGCTCCTCTGAGTCATAAGGGAAAGTTATGCACACTTAAATTTAGCTGAACACTCATTTTTATAGTATTGACTTTTTTGTGACCTCGATAAACTTGGTTCATGGTGAAAGGCAGTCTCTGTCCTTGGTATGGTAGAAAGGCCTGGTGGTGAGGACCCACGCCAGACAGACGCGAGGCAGACACGGGACACATGCCAGATGGGCAGACGCGAGGCACGTGGTTCTGAGGGCTCCTCAGAGGCCCACATGCCAGGACCGCCCAGCCGCCCTCCTCCAGATCTACCCGGCCACCCTCCCCCAGGCCTGCCCAACCACCTTCCCCCAGCCCTGAGAAACCCTCGACCGCCACCTCCCCTGCCACCCTCCCCCAGCCCTGAGGGGCCTGTGGGCTCCTTGTCGGGAGCAGGCTGGGCTGCAGGTGTCACCACAGCCTGGTCCAGCTATAGGCTTCTCTAGTATTAGCACCTCTGCCCCTCACAGTGCCTAGTGGCCCAGGCCCAGCTCTGTCCCCATGTTACAGATGGGGACACCGAGCCACGGCCAGGACCAGTGACTTGCCGAGGTTGTGGGCTGGGGTGCTCCTGGCTGATCCCCGGGTTCTTGGCTCCCTGAGAGTGCGAGATGCCGTGTCTGTGAGGTGCCTGCAGCATCGAACGCTTCGGATACAGAACCAGTTTTCTTCCTCATTTCAGTGACGTGGCACCAGCTGGCTTTTGCTGACCATTGTGGCAACAGGCTGAGGCTGTGGCCTGGGTTCACCACTACTCTCTATTTTTCAG
Seq C2 exon
GGCAAGGCTGCAGCTCTACCGGACGCGGGACATGGGCTGGGGCGTGCGGTCCCTGCAGGACATCCCACCAGGCACCTTTGTCTGCGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000181090:ENST00000460843:23
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=0.000
Domain overlap (PFAM):

C1:
PF0503311=Pre-SET=PD(29.2=79.5)
A:
NA
C2:
PF0085623=SET=PU(15.9=56.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCCTGCCAGAGTTCAACAT
R:
CAGACAAAGGTGCCTGGTGG
Band lengths:
192-1568
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains