Special

HsaINT0056905 @ hg38

Intron Retention

Gene
Description
enhancer of polycomb homolog 2 [Source:HGNC Symbol;Acc:HGNC:24543]
Coordinates
chr2:148769151-148770937:+
Coord C1 exon
chr2:148769151-148769240
Coord A exon
chr2:148769241-148770791
Coord C2 exon
chr2:148770792-148770937
Length
1551 bp
Sequences
Splice sites
5' ss Seq
GCTGTAAGA
5' ss Score
4.19
3' ss Seq
TGTTTTTTCTTTCTTTGCAGCCT
3' ss Score
11.71
Exon sequences
Seq C1 exon
GTATTGTCCCCAGTATCAGAACCGGAAGAAGAAAATGATCCTGATGGTCCCTGTGCTTTCAGAAGGCGGGCAGGATGCCAGTATTATGCT
Seq A exon
GTAAGAACTTTTGTGTGTGTGTGGTGTTTTTGTGAACTGGAATTAACAGGTAACCCATGTCAAGATGACTTAGTCTTGATCTAAAAATGGGAAATGCATCAGTACTTTTTATTTAACATCCTTTATGTGGATACTGGTAAAAGATGCTAAAAGGTACTGAGTCCTTTCAAAGGGCGTCGGAATCCTCTTCTTGGAAATTGATAATTCCTCACATTTTAGAAATTTAGGTTCATTTTGGGCTCTAATTATAGCTTCAGCAGCTGTGAAAATTACTCAGTGTGTCATTACTAGAATTAGGTAAACCCAGAATTTGTAAGTTGGTTCTAGAACCTTTGATGGCTGCTAGGTGTTTATTGAAATTTATTGTTATGCAAGCCCATCTTGTGCATACATACCAGTAAGTATCAAACAAAATAATAATTTTGTTTGATACTTCCATAATGGCAATGTTTTGTCTAATAATTGTATTCATAACTTTTTGACACACCTAGAAGTTGCTTTATGCTATGAAGTCGCATTATATCACTCTCCAAGGTTCTCAATGAGATATAATGTAGCATTGTGAGGATGGCTTTGACTTTCTTATATGGCTTGTAGAGATCATTTATCTTGCTATATAATGGTAAGCATACACTGACAGCTTTTTTAGAGTGTGTAAATTTAGGAGAGGTGGAGATTTGTTTACTAGTTATGTTGATGAGAGAAGGGAAAATTCTTAACGAAAGGGGACAGACAGCATGATAAAATGATGAAGGGAATGGGAAGGCAGGGAACAGCTTGTTTGTTTCTTTATATTTATTTATTTACTTATTTATTTCTTTTAGAGACAGGGTCTTGCTCTGTCACCAAGGCTGGAGTGCAATGGTGCAATCATACAGTTCACCGTAACTTCAAACTCCTGGGCTCCAGTAGTCCGCCCACCTCAGCCTCCTGGGATTACAGGCGCATACCACTACATGCTGCTAATTTTTGTAATTTTTGTAGAGATAGGGTCTTGCTACGTTGCCCAGGCTGGTCTTGAACTCCTGGTCTCTAGTGATCCTCCTGTCTTGGCCTCCTAAAGTGCTAGGATTACAGGCATGAACCACTGCATCCTGCTTGGATGTGTGTTTCTTAAAAGTAAAGAGGAAGCTTCAGTTTGACCCCATAGTGTTTGAAGTGCAATTTTTAGTCCAAAAAATATTCTTTCTGGTTTCTCAGTAGGAAGCCTACAAATTACTATGTAATTTCACCATCTCTACTTTGTACACAAATGTTAAAAGCTGCATTATTTTTAACTATATATTCCTTTTTAAGTATAATAGACCCTAAATGAATTTATATTTACAAACTAAATTCAGTTTTGGTAATCTTGGTGAGTGAACTTTTGATTCAATTTTGTAAAATTTAACCTGATTAATAGTCAATGAAGCCCCACTTTTACAGTTTTATATCTAGATTTTAATTGTTCTGCTAATGTTGCAGTTACTTCATGTTTATCATGATCTAACCTGTCTTCATTTCAGATTTACTCCATGAGTTTTTTGTTTTTTGTTTTTTCTTTCTTTGCAG
Seq C2 exon
CCTCGTTTGGACCAAGCTAACCATTCATGTGAAAATTCAGAATTGGCAGATTTGGATAAGTTGAGGTATAGGCATTGCCTTACAACACTTACAGTCCCAAGAAGATGTATAGGATTTGCAAGGAGGCGAATTGGCAGAGGTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135999:ENST00000258484:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.396 A=NA C2=0.017
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCCCAGTATCAGAACCGGA
R:
CTTCCACCTCTGCCAATTCGC
Band lengths:
231-1782
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