HsaEX1005848 @ hg38
Exon Skipping
Gene
ENSG00000141867 | BRD4
Description
bromodomain containing 4 [Source:HGNC Symbol;Acc:HGNC:13575]
Coordinates
chr19:15244710-15254262:-
Coord C1 exon
chr19:15254152-15254262
Coord A exon
chr19:15246508-15249290
Coord C2 exon
chr19:15244710-15244762
Length
2783 bp
Sequences
Splice sites
3' ss Seq
TTCTCTCTCCCTCTACGTAGGTC
3' ss Score
11.43
5' ss Seq
GAGGCTTCT
5' ss Score
-9.24
Exon sequences
Seq C1 exon
CTGAGAAAGTTGATGTGATTGCCGGCTCCTCCAAGATGAAGGGCTTCTCGTCCTCAGAGTCGGAGAGCTCCAGTGAGTCCAGCTCCTCTGACAGCGAAGACTCCGAAACAG
Seq A exon
GTCCTGCCTAATCATTGGACACGGACTCTTAATAAAACGGTCTTCAGTTCCAGATTCCTTCCCAGCAAGCTATAGCTTAAGTCCATTTTCTTCCGTGAAAGGGACAGGACTCCATCAAGTTATGGAATTCCTCAGAGCCCTGGGCCTGTCCCCCGGGGTGGATTAGTCATGTCCAGCAGCACACGCCTAGTCCCGCCTTCGGGAAGGCTGCCTGCCTGGCCAGCCGCCCAGGCCTCTCTGTGTAAAGACTGCCTGGCTGTCCTGCCCAGCCTTCCTGGTTCTCTGGGGTCCTCTGGGTGGGTGGCATCTCCTGGAGGGTGATGACAATCCCCAACACATGCATTCATGTGGTGCTACTCTGTGTGCAAAGCCAGACCCCAAGTATGTTTTCTCTCTTTGTCCCATCCCTCTTTTTCTGGGACTTTGGACCCTAACTACTTCCCTCCTGAACCTTGCAGTGACATCAGTCCAGGAGAGCTCTCGTTCAGTGTGCGGAAGAACACTCTGACCTCTAGAGCTGTCCTAGATAAGGAGTGGGAGCTTTAGAGGCAAGGCCTCTAGACCCTGGAAGGCTCAGTGAGGCTCTTCCCACAGCATGCTTCTCACTGGTGCCCTGTAAGGCTCGAGCCACCGCTGACTCTGAGCCTTTTGGAGTCTTTCCTCCTTCGTCTCCATTGTTCCCGTGCATTTCCAAAAGCTTAAGTTGCCTGGTGGGCATTTCCCCAGTTTCTTTGGCCTCCGTCTTCTCAAGTCACATAGGGAAAGTACCTCCTGGAACCAGGCTGCAGTATGCAGGACCTGCCAGGCAGGCACTGGTGAAGGGCCTTGGGCCTATCATCCCCCCAACCCCACCTCACCCCACCCGCCTCCTCTAGTGGGGTGAGTCTGGGCTGGTGGACCAGAGAGGGTGTCACAGACCCTCAGGGACTGCCCCATGGACACCTCTGACTGGTGTTAACAGTGTGAACATTTTCCCCGTCTTCAGTCCCTTAGAATGACGACAGCCCCTGGGGTTGGGGCAGGCGAGTGTGGCCACATCATCCAAGCCCTCCCAGAGACACAAATAGGCTTTTTTGCTCTAAAAATAAATACCAGCCCTTTTTTGGTCACAAATCCAGCATCTCAGCAGAAAACTGCCTGACATGAAAAGTCCCCTGAGGAACTGCATCTGCGTTTCAGGGGCTTTTCATTTTTTCTCCTTTTTTAAAGTGTAGATTGTGGGTGCTTCCTAGAGGCCTGCCTTCTTCTGGAACTGGAAGTGGGCTATCACCATGGGCAAGCCCTTGGGTGCAGGCTCCCCACCTGCCTGGGAACTCTGGCAGCTCTCCTCAGCTCCTTGGGCTTGAGCAGCTGCAACTGCCCCAGATTTGCTGTGGAAGCAGGGGCTAGCCCTGGCCTCACCAGGGCCTCCCGGGGCCCTGCATTGATGCTCAGGAGTTCCTGGGCTGCTCTTGATCCTTTCTGGGCATCCAGCTTCCAGTTAAGCTCTGTTTGCCAAACAAACTATTCTCAGCTGCCCTTTGGCCTGCGCCTGATGTGTTCCTGTTGCAGTCCCGCCTGCCTGAGACAGGAGCAGGCAGGAGAGCCTTCATGCCCAGATTCCCACAGGACAATTGGGGAGCTGCTGGCATTGTCTTTCTGGGAAGATTCTGCTTTCTTGGACCAAATGGCAGCCTGATTACCAGTGTCGGGCCTGCATGCTGCCCCCGACACACGCACGCACGCGCACACACGTGTGCACATGGGCCATAGCCACAAGCCAGCTCTCCTCCAGGGTCCTTTCAACCTCGCTGTCCAGGGACCCTGTCCTTCTTGCCCGTGGGGCTTCCATCTGGCAGAGAACGTTCAGGGCTTGTTGAACTTGAAAGCTCATTAGACTTAAGCTGTCACCTGTGCTTGGTGCCCCAGGAACAGCCAGAGAGGACAGTGCCCACTCACTTCTTGTTGGCAGCCTCCTGTGCAGGAAGTGCCAGCCGGGCCTCGACGCACCAGCTGGCTGTGGGTCCTGAGGAGGGGCGGGAGGCGGCCGCTCAGTGCAGATGGGGACTCCTCTCCTCTGCCCTGACCTTACCCTCCATTACCTCCTTCACTGGAGTGGGGCTGGGGGGTGGGTGGAATCAGTGTTTTAATCGGATTTTTAAAAAACATTTTATTTCTTTGTACAATTACCATCCTATGTAAAGATGAAATTTGTGTTGAGTTGAAGATTGTCATGGAATAAAGATCACACCGTACTTGAGGCCATCTTCATGTAACCCTTTCTAGAGAGTTTTGTGTGGGGGTGTCTTGGGGCTGGTGTGTTGTGAAGCTGTGCACTTCCTGTCTTGTCTTTTACTGGTAACTCTGACACAAGGCTCAGACCACATGGGCCAGAAGGGGGTACCTCTACCACCAGCCCCTTTAGGCATCTGGTCCTGGGGGTCTGCCGTGCACATGCCGCCTTCTCTCCCCCACTTTTTAGGCCTGCCTTGCCTGGGGGCCCCAGCACTTGCAAGGGGCCCTGGAGACAAGTCCTCAGGATATTCCCTGTGGCCTTTCCAAGGCAGCTGAGACATGCCCCCTGGAACCCCCCACAGGCCCTGCTGCGCTTTGTCCCTACATCTTCTCCTATGGGCCTCTGCTCACAGCCTGCAGGCTGTGAGGGGTTAGAGTGACCATCCCTCTTTTACAACCAAAAAAACAAGGTTTCTTCCAAGGCCACGAGACAACAGGCGAGCCCCAGCATATCCTTCCCTTGCACACACACTTTTTCCCTCAACTCTATATCTGGACACATCCCTGAG
Seq C2 exon
AGATGGCTCCGAAGTCAAAAAAGAAGGGGCACCCCGGGAGGGAGCAGAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000141867_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.961 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000263377fB10664
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 1 annotated functions for this event
PMID: 32203489
This event
Usually an APA. BRD4S (using the internal APA/including this exon) forms liquid-liquid phase separated condensates within cell-nuclei. This phenomenon is mediated by the multivalent interaction of BRD4S IDR and bromo-domains to DNA and acetylated chromatin. Phosphorylation of BRD4S reduced the phase separation propensity. The nuclear puncta formed by BRD4 correlate with BRD4S and not with BRD4L expression levels. Finally the authors show that BRD4S is important for gene transcription, however this is a bit conflicting with the previous finding (PMID: 23317504) that BRD4 phosphorilation activates gene expression, as the phosophorilation of BRD4S reduces liquid-liquid phase separation.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains