HsaEX0043736 @ hg38
Exon Skipping
Gene
ENSG00000116833 | NR5A2
Description
nuclear receptor subfamily 5 group A member 2 [Source:HGNC Symbol;Acc:HGNC:7984]
Coordinates
chr1:200027602-200043892:+
Coord C1 exon
chr1:200027602-200027911
Coord A exon
chr1:200039658-200039795
Coord C2 exon
chr1:200043774-200043892
Length
138 bp
Sequences
Splice sites
3' ss Seq
TCTGTGCTGCCCGTGTCCAGGTG
3' ss Score
10.19
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GAAACTGGATACATGGTTTACAGCAGGTCACTAATGTTGGAAAAAGTACAGAGTCCAGGGAAAGACTTGCTTGTAACTTTATGAATTCTGGATTTTTTTTTTTCCTTTGCTTTTTCTTAACTTTCACTAAGGGTTACTGTAGTCTGATGTGTCCTTCCCAAGGCCACGAAATTTGACAAGCTGCACTTTTCTTTTGCTCAATGATTTCTGCTTTAAGCCAAAGAACTGCCTATAATTTCACTAAGAATGTCTTCTAATTCAGATACTGGGGATTTACAAGAGTCTTTAAAGCACGGACTTACACCTATTG
Seq A exon
GTGCTGGGCTTCCGGACCGACACGGATCCCCCATCCCCGCCCGCGGTCGCCTTGTCATGCTGCCCAAAGTGGAGACGGAAGCCCTGGGACTGGCTCGATCGCATGGGGAACAGGGCCAGATGCCGGAAAACATGCAAG
Seq C2 exon
TGTCTCAATTTAAAATGGTGAATTACTCCTATGATGAAGATCTGGAAGAGCTTTGTCCCGTGTGTGGAGATAAAGTGTCTGGGTACCATTATGGGCTCCTCACCTGTGAAAGCTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116833_MULTIEX1-3/3=C1-C2
Average complexity
ME(1-3[95=100])
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.935 A=0.674 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0010513=zf-C4=PU(32.9=57.5)
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:
CCTTCCCAAGGCCACGAAATT
R:
AGGAGCCCATAATGGTACCCA
Band lengths:
258-396
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development