HsaEX0043717 @ hg38
Exon Skipping
Gene
ENSG00000123358 | NR4A1
Description
nuclear receptor subfamily 4 group A member 1 [Source:HGNC Symbol;Acc:HGNC:7980]
Coordinates
chr12:52056030-52057259:+
Coord C1 exon
chr12:52056030-52056159
Coord A exon
chr12:52056494-52056645
Coord C2 exon
chr12:52057057-52057259
Length
152 bp
Sequences
Splice sites
3' ss Seq
CCCTACCCATTCCTTTGCAGTTG
3' ss Score
9.21
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
CGCACAGTGCAGAAAAACGCCAAGTACATCTGCCTGGCTAACAAGGACTGCCCTGTGGACAAGAGGCGGCGAAACCGCTGCCAGTTCTGCCGCTTCCAGAAGTGCCTGGCGGTGGGCATGGTGAAGGAAG
Seq A exon
TTGTCCGAACAGACAGCCTGAAGGGGCGGCGGGGCCGGCTACCTTCAAAACCCAAGCAGCCCCCAGATGCCTCCCCTGCCAATCTCCTCACTTCCCTGGTCCGTGCACACCTGGACTCAGGGCCCAGCACTGCCAAACTGGACTACTCCAAG
Seq C2 exon
TTCCAGGAGCTGGTGCTGCCCCACTTTGGGAAGGAAGATGCTGGGGATGTACAGCAGTTCTACGACCTGCTCTCCGGTTCTCTGGAGGTCATCCGCAAGTGGGCGGAGAAGATCCCTGGCTTTGCTGAGCTGTCACCGGCTGACCAGGACCTGTTGCTGGAGTCGGCCTTCCTGGAGCTCTTCATCCTCCGCCTGGCGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123358-'34-46,'34-41,38-46=AN
Average complexity
A_S
Mappability confidence:
93%=86=86%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.353 C2=0.000
Domain overlap (PFAM):
C1:
PF0010513=zf-C4=PD(58.6=93.2)
A:
NO
C2:
PF0010425=Hormone_recep=PU(31.4=86.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACAGTGCAGAAAAACGCCAA
R:
GCAAAGCCAGGGATCTTCTCC
Band lengths:
253-405
Functional annotations
There are 2 annotated functions for this event
PMID: 11274386
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, protein kinase assay. ELM ID: ELMI000100; ELM sequence: RGRLPSKPK; Overlap: FULL
PMID: [1]
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis. ELM ID: ELMI000099; ELM sequence: RGRLPSKPK; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development