Special

HsaINT0056882 @ hg38

Intron Retention

Gene
Description
enhancer of polycomb homolog 1 [Source:HGNC Symbol;Acc:HGNC:19876]
Coordinates
chr10:32272026-32273281:-
Coord C1 exon
chr10:32273163-32273281
Coord A exon
chr10:32272168-32273162
Coord C2 exon
chr10:32272026-32272167
Length
995 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
CTTTTGTATTTTCTTTTTAGGGT
3' ss Score
11.65
Exon sequences
Seq C1 exon
CATTTACAGCCGAACAATACCAGCAACATCAACAGCAACTGGCACTCATGCAGAAACAGCAGCTTGCACAAATTCAGCAACAGCAAGCAAATAGTAATTCCTCCACCAACACATCACAG
Seq A exon
GTGAGGGATTTGTCTGTCTTATGATTATCCCTCATTGTTTCCCACCAGAGTTCATCTCTAATTACCAACTGTTGTCATAGAACCTTGCATCTAACCAGCAGAAAAGTGGCTTTCGCCTGAATATACAGGGTTTAGAAAGAACACTACAGGTGAGTATGGAAGCTGTTGCCTCTGCTCCCTATTTTAAAAAGTAAAACTAAAGCACTTAGTTAAATGAGATGAAGATACTGTCTTCCCGTCTGACCTGTAGTCCATTAATGTACCTCTTGAATATATAACCCCACCCAGTTCATTCTCTTGGGCATGTTAATTATTATTAAGGCTTTTAACATTATGCAAAAATAACCTCTCCAACTGTTGAAAGAGATAACTTTTAAACCTAAAGCATGATAAACGTTTGCCAGTTAAACACATGTAGGGCATAAAGGCTGAGGTTTGAGTCCCTGCATCTTGCAGGAAAAATATATTTTTAAAAAGTTGAGGGGCCTATCAATTTCTAGGTTAAATTATGTGATATTTTGTTACTTCCATTTCTAAAGGGATAGTTATCTTATCCCAAAGGTGCCTTTCATTGTGTGTGTATACATATGTGTGTGTGTATAAGTTAGGTGAAGGAAGTTTACATATTCATTTATTCATTATATGGATTTGCAAATCACTGAAATGTTTACTAGCATATTTCTTGTCCAACATTTTGTGTTGGAGGTTTGCTGTTTCCACATTATAGAAGGCTTATTTTGGTAATTGACTTATACATATTATATATTGTCACATATGAAGCAAAATTTATAACTTAGATTACTTTTCACTTATCAAATATATGACTATCAAAAGAGATATAATTACTGTTGCATCTCAAGGTACCAAAATAGAAAGATTTCAGTGGTTTGCCATTTTTACTTATATTCAAACTGATTTTGGTATGCATGTGTAGTTTTGATATTGATTTGATACTAAGTGATACTGATTAGATTTCTTTTGTATTTTCTTTTTAG
Seq C2 exon
GGTTTTGTTTCTAAGACTTTGGATTCTGCTAGTGCACAGTTTGCTGCTTCTGCTTTGGTGACATCAGAACAACTGATGGGATTCAAGATGAAGGATGATGTGGTGCTTGGAATCGGGGTGAATGGCGTCCTTCCAGCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120616:ENST00000375110:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.592 A=NA C2=0.042
Domain overlap (PFAM):

C1:
PF067527=E_Pc_C=PU(15.3=97.5)
A:
NA
C2:
PF067527=E_Pc_C=FE(18.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGCCGAACAATACCAGCAA
R:
GAGGCTGGAAGGACGCCATT
Band lengths:
254-1249
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