HsaEX6066605 @ hg38
Exon Skipping
Gene
ENSG00000123358 | NR4A1
Description
nuclear receptor subfamily 4 group A member 1 [Source:HGNC Symbol;Acc:HGNC:7980]
Coordinates
chr12:52045480-52056159:+
Coord C1 exon
chr12:52045480-52051568
Coord A exon
chr12:52054327-52054651
Coord C2 exon
chr12:52056030-52056159
Length
325 bp
Sequences
Splice sites
3' ss Seq
GGGGTCTCCTCTCTCTCCAGAGA
3' ss Score
8.93
5' ss Seq
GGTGTACGG
5' ss Score
0.79
Exon sequences
Seq C1 exon
CTGGTTATTCTGGACCTGGGGGCCCCCAGCTGGGACCCGAGTCCGGTGCGGGGAGCCTAGTGGGCCTGGGAGCTGCTATTTTTAGCGGGCGCGGCGGGCGCGAGGAGCCTATTTATAGATCAAACAATCCGCGCTCCCTGCGTCAATGGAACCCCGCGTGCGTCACGCGCGCAGACATTCCAGGCCCCCCCTCCTCGCCCCGCCCCCTCGGGCTCCCCGGGCCGCACCTCCCCCTGGCCGCCTCCCGCCGGAACCGCACCGCCCCCCGCGCCCTTGTATGGCCAAAGCTCGACGGGCGGCCTGCGTCAGTGGCGCCCCCGCCCCTCCCCGTGCGTCACGGAGCGCTTAAGAGGAGGGTCGGGCTCGGCCGGGGAGTCCCAGTGGCGGAGGCTACGAAACTTGGGGGAGTGCACAGAAGAACTTCGGGAGCGCACGCGGGACCAGGGACCAGGCTGAGACTCGGGGCGCCAGTCCGGGCAGGGGCAGCGGGAGCCGGCCGG
Seq A exon
AGATGCCCTGTATCCAAGCCCAATATGGGACACCAGCACCGAGTCCGGGACCCCGTGACCACCTGGCAAGCGACCCCCTGACCCCTGAGTTCATCAAGCCCACCATGGACCTGGCCAGCCCCGAGGCAGCCCCCGCTGCCCCCACTGCCCTGCCCAGCTTCAGCACCTTCATGGACGGCTACACAGGAGAGTTTGACACCTTCCTCTACCAGCTGCCAGGAACAGTCCAGCCATGCTCCTCAGCCTCCTCCTCGGCCTCCTCCACATCCTCGTCCTCAGCCACCTCCCCTGCCTCTGCCTCCTTCAAGTTCGAGGACTTCCAGGT
Seq C2 exon
CGCACAGTGCAGAAAAACGCCAAGTACATCTGCCTGGCTAACAAGGACTGCCCTGTGGACAAGAGGCGGCGAAACCGCTGCCAGTTCTGCCGCTTCCAGAAGTGCCTGGCGGTGGGCATGGTGAAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123358_MULTIEX1-5/7=2-6
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.034 A=0.547 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0010513=zf-C4=PD(58.6=93.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGTATGGCCAAAGCTCGACG
R:
CTTCCTTCACCATGCCCACC
Band lengths:
357-682
Functional annotations
There are 3 annotated functions for this event
PMID: 22002310
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI002018; ELM sequence: SATSPA; Overlap: FULL
PMID: 22002310
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI002019; ELM sequence: SAPSPS; Overlap: FULL
PMID: 22002310
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI002306; ELM sequence: SPSTPS; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains