HsaINT0056603 @ hg19
Intron Retention
Gene
ENSG00000100393 | EP300
Description
E1A binding protein p300 [Source:HGNC Symbol;Acc:3373]
Coordinates
chr22:41531817-41533794:+
Coord C1 exon
chr22:41531817-41531910
Coord A exon
chr22:41531911-41533656
Coord C2 exon
chr22:41533657-41533794
Length
1746 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
3' ss Seq
TTGGTGACCCCTTTTTGAAGCCC
3' ss Score
4.35
Exon sequences
Seq C1 exon
GTGCTAGTCCTATGGGAGTAAATGGAGGTGTAGGAGTTCAAACGCCGAGTCTTCTTTCTGACTCAATGTTGCATTCAGCCATAAATTCTCAAAA
Seq A exon
GTAAGTCTTAACGTGATTTATACCCTGGGTCACATTACAAATACTACTGGTTAACAATTCATTGTTTGACTTTTGAACTTAGTTTCCTCGGTTTGAGGATGTCTTTGAATACAGATAGATGTTTGAGTCCATTCTTTCTTTTTTCGCTCTGTAGCCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGTTCTGGTTAAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAACACACCACCATGCCCAGCTAATTTTTGTACTTTTGGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCGCGATCCGTCTGCCTCAGTCTCCCGAAGTGCTGGGATTGCAGGCGTGAGCCACCACGCCTAGCCCACTCTTTCTTCTTTCTACAGCCTTAATCGAAATTGTATTGATTTTCTAGTGTAGCCTACACCTTCCCTAATACAGTAGGATGTTGCAAGGTTACAGCTCCATAATAGCCTTATCCTGATGTTAAGAATTAGTCCACCAGCCTGGGCAATATGTCAAGACGTCTTCTCTACAAGAAAATACAAAAAAGTTAACGGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTGATGAGGCTGAGGTGGGAGGAGCACTTGAGGCTGGGAGGTCGAGGCTCTGGTGAGCCGTGATTACACCACTGCACCCTAGTCTGGGTGACAGCGAGACTGTGTCTCAAAAGATAAAAATTATTATTTTAAAAAGAGAGGTAGTCCATCATCCAAAGCATTCCCTGAGGTGAGCTGTGTTAAAATGACAGCTTAGTCTGATAACACAAGCCTTAGAAAACTAAGTATGGGCCGAGCATGGCAGCTCCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTGCTTGATCTTAGAAGCTCAAGACCAGCCTGGGCAACATGGCGAAATCCTGTCTCTGCTAGAAATAAGAAAATTAGCCGGGCATGGTGGCATCCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGACACGCCATCTCAAGAAGGAAAAAAAAATGGCTGGGCTCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCCAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGATGAAACCCCATCTCTACTAAAATACAAAATTAGCCGGACGTGGTGGCGGGTGCCTGTAATCCCACCAACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCAGAGATTGCAGTGATCTGGGATTGCACCACTACAGTCCAGCCTGGGCAACAGAGCAAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAGGCATTACAGACAAAACCCAGAAAATGAAGTCTTATGATATCTTGTGTTAGGACATCATCCTGCCCTCCAAAGAAATACAACTTACCCTCACACAGGTATGAACATGCACAGTTTAAAATCAGTCTAGTCACACACTTCTCCCTGCCTAGCTCCTTAATGCGAATAGAAGTGACATAGCATATTGATTCCATTACAATAATCAGTGTCAGCTTGAATTAAATGAGGTCTTCTCCTACCTTTCTTCACTAAAACTATTTGGTGACCCCTTTTTGAAG
Seq C2 exon
CCCAATGATGAGTGAAAATGCCAGTGTGCCCTCCCTGGGTCCTATGCCAACAGCAGCTCAACCATCCACTACTGGAATTCGGAAACAGTGGCACGAAGATATTACTCAGGATCTTCGAAATCATCTTGTTCACAAACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100393-EP300:NM_001429:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.894
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0217211=KIX=PU(25.9=44.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTAGTCCTATGGGAGTAAATGGA
R:
AGTTTGTGAACAAGATGATTTCGA
Band lengths:
231-1977
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)