Special

HsaINT0056902 @ hg38

Intron Retention

Gene
Description
enhancer of polycomb homolog 2 [Source:HGNC Symbol;Acc:HGNC:24543]
Coordinates
chr2:148761782-148762802:+
Coord C1 exon
chr2:148761782-148761930
Coord A exon
chr2:148761931-148762669
Coord C2 exon
chr2:148762670-148762802
Length
739 bp
Sequences
Splice sites
5' ss Seq
AAGGTAACA
5' ss Score
8.92
3' ss Seq
ATTTTTGTTACCTTTTCAAGATA
3' ss Score
6.35
Exon sequences
Seq C1 exon
AATCGTAAGAATGATGAAGCCTCTTATGAAAAGATGTTGAAACTGAGACGAGAATTTAGTAGAGCCATAACAATTTTGGAAATGATTAAGAGAAGAGAGAAAACAAAACGAGAATTATTGCACTTAACCTTAGAAGTTGTGGAGAAAAG
Seq A exon
GTAACATTGCTCCTGTTACAACAGTAAAATGACAACTTTACCAAATGATGGGCAAAATGAACCAAAAGATTTTTAGGGGGGAACAGGTTAAGCTTTATGACAGTTGATATTGATTCTGTAAGAATTTATATTTTTTAAAGATTTGTGGTTACTAGTTTTTATAGATTAAGTTATCAATTTGGATTGCAGATTTTGGGAGAGTTTTGTGTATACTGTAGATCCTATACTTAATTTTGTTTTGGCAGAATCATTGAATTTTATTTAGTAAAGAACTCTAGTGATCATATTGTTTACTTCTCTGTATTAAATTTTCTATTAAATCTGAGGGAAATAAGTATTGATTTTATTTTCTGAGTAGGTAGACATTTTTCGTTTCAACTCCTTTTAGAAATGTGTGCTCTAATATAGTATATTTTCCTACAAAATTAAATAGACTAAACAAAAACAGAATTTTGTATGATTCCTGGAGTAAGCATTCTAAACATTTCCTAGTGCTTGATTATATAATATATGTAAGAAATTTGTTTGCTGTGTACCTTAGGCCTTTTTTAGTTTTTTGGTTTGTTTTGTTTTTACCAAATCCCTGTTTCTTTATTCCTGCAAATTTTATCTTTTAAAAGTAATTTGATTGTTAGCCCTTTTTGACTAGGTGACTTCCAATTAATTGAGGTATCACTTATTTTCCTTCTTTATTGTCAAACTATGCAATGTTTTCTTATATTTTTGTTACCTTTTCAAG
Seq C2 exon
ATACCATTTGGGAGACTATGGTGGTGAAATCCTTAATGAAGTAAAAATCAGTAGATCAGAAAAAGAGTTATATGCCACTCCAGCAACTCTTCATAATGGAAATCATCACAAAGTTCAAGAATGTAAAACTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135999:ENST00000258484:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.176 A=NA C2=0.511
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTAAGAATGATGAAGCCTCTTATGA
R:
ACATTCTTGAACTTTGTGATGATTTC
Band lengths:
270-1009
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