Special

HsaINT0056893 @ hg38

Intron Retention

Gene
Description
enhancer of polycomb homolog 1 [Source:HGNC Symbol;Acc:HGNC:19876]
Coordinates
chr10:32284698-32286842:-
Coord C1 exon
chr10:32286694-32286842
Coord A exon
chr10:32285051-32286693
Coord C2 exon
chr10:32284698-32285050
Length
1643 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
CTTGTCTGATTTTTTAATAGGGT
3' ss Score
9.15
Exon sequences
Seq C1 exon
CCTCACTTAGACCAAACTGGCAACTGGCCTTGGACTAGTCCTAAAGATGGAGGATTAGGGGATGTGCGATATAGATACTGCTTAACTACTCTCACCGTACCCCAAAGGTGTATTGGATTTGCACGAAGACGGGTTGGGCGCGGTGGAAG
Seq A exon
GTAAGGTATTTCTGTATTCCTAGCAGAAGGATATTTTAGGCATTAGGGTGATTGAATCTAACTTTTAAAGTCAGGTAATCCCTCTGAACAACTCATTAGTTCCTATTTGCTATTCTTAACTGATCTGTTGACTAAAATATTTTTGTTGCTGTGCTGCCTGGTTCTTACACATCCATAGTTTTTGACATAACTCTATTGGGTCCCTAGTGGACCTGCTTTTCTCCCCAAGGTGGAAAACCTCAGATAAATTATCAAGGGGTAGAATTGTGAGAAAGGGCAACAGATGAAGACAAGTGTAAATCCTGATTGCACACAGTGTATTAAGTTAAAGAAACTGCAAAAAAGTTGTTTCACACTAGCTAGTATAATGGGTTTAACCTGACAGTGAAAAGGATCCATGCATAACCTGATCTTGACATCCCAGTTTGTTAGGATCTAATTGTTCTTCCTTTGTTTAAACCTTGTAGAATTCCTTCCTTCATACTCTAAATGCCTTTATGCGAGTTGCTTGTATGGGGACAGGAAACAAATAGCAAAACACATAAACTCAAGGAATGGAGAGACGTTAATGTATAATGTGCGGGGAAAATTAAAAGGGAAAGCAAATAATAGTATCAAGGTGCTTTTTCAGGAAGAAACCCAAGCGTATATTTATGATAAACTAATGGCTTATACATATATTTTTTTCATCTTCAACTCTTAATTGCAGAGGGTTTTTTTTTATTATTTAAACATTGGTTAAGAATTATCTAGGCACTAAAATACATTTTATTTAGTCCGTTTTTTTCCATCACTGCTGACATCAGGAGCAGTGAAAATTCTCTACGTTAGCTATATTTTATTCTATTACTAACATTAATCAATGTTATTATTTTGACTTGGAGCCATTTATAATGTTTATATAAATAACATAAGAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGGGAAACACTGTCTCCACTAAAAACACAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGCGGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGTCTGGGTGACAGAGTAAAACTCCATCTCTCTCAATCAATCAGTCAATCAATCAATAACATAAGAATATATCCTCTAGAGTAGTGGATCTCAAATATTTTGTCTATAAGAAATGTTAATGGTATACTATGTTTTTTGTTGCTTTTCTTCTCTCTTCTCCCTTTCCCCCCAAAAGGAATGAAGTTTTTGCTTAAATATAGAATAAATGTGTTCGCAACATTTTATAAAGCATTCATTTTGGTGCTTTGTAATGGAAGTGAAAATCTTTAGTTGAAAAACAATTTGTTAAAAGAACTTTTATTAGAAATTGAGGTTGTAGCCTATAAAAACCAAACACTAAAATAATCAACTTTAAAGCTTTTAAATATTCAGTATGAGTTGGCCTTTTGGCAGTTGGGGGTAAAAAGAAAAAGCTTTAATATATAATCTTTGAATAGCTATTTTAAATAACTGTTTCTTGTCTGATTTTTTAATAG
Seq C2 exon
GGTCTTACTGGACAGAGCTCATTCAGACTATGACAGTGTGTTTCACCATCTGGATTTGGAAATGCTTTCCTCACCACAACATTCTCCAGTCAATCAGTTTGCCAATACCTCAGAAACAAATACCTCGGACAAATCTTTCTCTAAAGACCTCAGTCAGATACTAGTCAATATCAAATCATGTAGATGGCGGCATTTTAGGCCTCGGACACCATCCCTACATGACAGTGACAATGATGAACTCTCCTGTAGAAAATTATATAGGAGTATAAACCGAACAGGAACAGCACAACCTGGGACCCAGACATGCAGTACCTCTACGCAAAGTAAAAGTAGCAGTGGTTCAGCACACTTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000120616:ENST00000375110:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.180 A=NA C2=0.426
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF067527=E_Pc_C=PU(0.1=0.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAGACCAAACTGGCAACTGGC
R:
GGCCTAAAATGCCGCCATCTA
Band lengths:
343-1986
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