HsaINT0056594 @ hg38
Intron Retention
Gene
ENSG00000100393 | EP300
Description
E1A binding protein p300 [Source:HGNC Symbol;Acc:HGNC:3373]
Coordinates
chr22:41169503-41170571:+
Coord C1 exon
chr22:41169503-41169616
Coord A exon
chr22:41169617-41170405
Coord C2 exon
chr22:41170406-41170571
Length
789 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAGC
5' ss Score
9.04
3' ss Seq
CTTTCTCTTTGTATTGTTAGTTA
3' ss Score
6.3
Exon sequences
Seq C1 exon
GAGAGTATACATATCTTACCTCGATAGTGTTCATTTCTTCCGTCCTAAATGCTTGAGGACTGCAGTCTATCATGAAATCCTAATTGGATATTTAGAATATGTCAAGAAATTAGG
Seq A exon
GTAAGCATATTTTGATAATGGCTTTTTTTCTTTAACTAGCATGGCATTCTGGTGAGATATAGGTTAAATATGCAAATATATAACTCTTGGCCTTTTTTTCCTCATTTTAGTTCTTACGTAACAATTCTCTTAACTTTGTTGGAGCCCCTTTGAAGTTAATGTCAGTAGAGAGAAATGGATATGTTGGCCCTAGTTTCACCCATCCAACATTAGTTTTGTTTGTAAGCTAAGCCATTGGGTCCACTTTGCTTTGAAGTTTGATTTGTGCCCCTCATTTGAGGGCAGAATTTTAACTGCATTTGATCCTTTTACAACCTGGGTATGAAGACCAAAAACAGTTCTGGAGATACTTCTTACCTTTAGAGTATGTATGTCATTGGAAACATTCACTCCCTCATCTTGAAGTCTGTTTCTCTGAACAGTGTGCCTTTTAATTTAGCTCTTGTTAAATGGGTCCATTTTCCTTTGCAGTGTAATCTTCATTTGGTCTTAACATGCAGACTTAGGGTTTTTGGATCCAGGGCTAAGTCACCCACTTCGTGGCTGAGATTCGCAACATCCCACCATGGCCTCCAAAAATAAGTAGGCAATATGAGATCCATTGTTACTACTGTGAGTTATGCCTAATTTTGGCCTCACAATGTTAATCTCATTCTGGGTTATATATACACTGTGTTATCTTGGGAAAAATTATTGGTATCTATATCAACTCCAACTTGTGGTTTAAAATGTAGCCTTCTAGAATAGATTATCTCTTTTCCTTAATGTTCTTTCTCTTTGTATTGTTAG
Seq C2 exon
TTACACAACAGGGCATATTTGGGCATGTCCACCAAGTGAGGGAGATGATTATATCTTCCATTGCCATCCTCCTGACCAGAAGATACCCAAGCCCAAGCGACTGCAGGAATGGTACAAAAAAATGCTTGACAAGGCTGTATCAGAGCGTATTGTCCATGACTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100393:ENST00000263253:26
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:
PF082146=KAT11=FE(12.4=100)
A:
NA
C2:
PF082146=KAT11=FE(17.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATATCTTACCTCGATAGTGTTCA
R:
TGTAGTCATGGACAATACGCTCTG
Band lengths:
270-1059
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