HsaEX0043729 @ hg38
Exon Skipping
Gene
ENSG00000136931 | NR5A1
Description
nuclear receptor subfamily 5 group A member 1 [Source:HGNC Symbol;Acc:HGNC:7983]
Coordinates
chr9:124500090-124503410:-
Coord C1 exon
chr9:124503294-124503410
Coord A exon
chr9:124503079-124503220
Coord C2 exon
chr9:124500090-124500715
Length
142 bp
Sequences
Splice sites
3' ss Seq
CTGACTCTCAGCTCCCGCAGGGC
3' ss Score
4.23
5' ss Seq
AAGGTGCGC
5' ss Score
9.05
Exon sequences
Seq C1 exon
GCGGACGCCGCGGGCATGGACTATTCGTACGACGAGGACCTGGACGAGCTGTGCCCCGTGTGCGGGGACAAGGTGTCCGGCTACCACTACGGACTGCTCACGTGTGAGAGCTGCAAG
Seq A exon
GGCTTCTTCAAGCGCACGGTGCAGAACAACAAGCACTACACGTGCACCGAGAGCCAGAGCTGCAAGATCGACAAGACGCAGCGCAAGCGCTGTCCCTTCTGCCGCTTCCAGAAATGCCTGACGGTGGGGATGCGCCTGGAAG
Seq C2 exon
CCGTGCGCGCTGACCGTATGAGGGGTGGCCGGAACAAGTTTGGGCCGATGTACAAGCGGGACCGGGCCCTGAAACAGCAGAAGAAGGCACAGATTCGGGCCAATGGCTTCAAGCTGGAGACAGGGCCCCCGATGGGGGTGCCCCCGCCGCCCCCTCCCGCACCGGACTACGTGCTGCCTCCCAGCCTGCATGGGCCTGAGCCCAAGGGCCTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCACTGGCTGGCTACCTCTACCCTGCCTTTCCTGGCCGTGCCATCAAGTCTGAGTACCCGGAGCCTTATGCCAGCCCCCCACAGCCTGGGCTGCCGTACGGCTACCCAGAGCCCTTCTCTGGAGGGCCCAACGTGCCTGAGCTCATCCTGCAGCTGCTGCAGCTGGAGCCGGATGAGGACCAGGTGCGGGCCCGCATCTTGGGCTGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136931_MULTIEX1-1/5=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.504
Domain overlap (PFAM):
C1:
PF0010513=zf-C4=PU(32.9=67.6)
A:
PF0010513=zf-C4=PD(64.3=93.8)
C2:
PF0010425=Hormone_recep=PU(19.7=67.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGGGCATGGACTATTCGTAC
R:
CATCGGGGGCCCTGTCTC
Band lengths:
242-384
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