HsaEX0043735 @ 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
chr1:200029033-200029728
Coord C2 exon
chr1:200043774-200043892
Length
696 bp
Sequences
Splice sites
3' ss Seq
CACAATCAATTGTTCTGCAGATA
3' ss Score
7.96
5' ss Seq
CCGGTAAAA
5' ss Score
6
Exon sequences
Seq C1 exon
GAAACTGGATACATGGTTTACAGCAGGTCACTAATGTTGGAAAAAGTACAGAGTCCAGGGAAAGACTTGCTTGTAACTTTATGAATTCTGGATTTTTTTTTTTCCTTTGCTTTTTCTTAACTTTCACTAAGGGTTACTGTAGTCTGATGTGTCCTTCCCAAGGCCACGAAATTTGACAAGCTGCACTTTTCTTTTGCTCAATGATTTCTGCTTTAAGCCAAAGAACTGCCTATAATTTCACTAAGAATGTCTTCTAATTCAGATACTGGGGATTTACAAGAGTCTTTAAAGCACGGACTTACACCTATTG
Seq A exon
ATAACACAGAAAATACAGGCACAAGAAAGATGAGAGAGCAGCACACAACCATTTCGCATCTTTTTCGTCGGGCAGAACCGCCGCGGTGCGCAGGCAAGGAGTCCTTCCCGGCAGCTCCGCGCAGCTCCGGTTCCGCGTCCGGGGCCGCAGCTAGAGCGCGCTCGGGCCGGAGACGCGGACTGCGCGCGCACGGGGGACGCGCGCTCGGGGGCTCGCGCCCGCGCGGGCGGTCTTGGGCTCCTGCTGCGCGCAGCCCCAGCTGGCCGCTGCCAAAATAGAGTTGAGCTGGGTCGGGAGACCACGCACGCCGATCCCTCACAGTCTCCCCCACACCCCATGGGTGAATTAAAGAGGGTAAGGTAGGGGAAAGAGACGCTGTTGCACTTTTCTCTGCAACCCTGGAAGAACTGTGTTTCCAGCTACCGCACGCGCAACTCACATCGCAAGGGACCGAGGCGGTACACTCTGAGCGTAAACAGAGAACACCTGCAGCTCTGGAATCGGTCCCACCGCAGAGGGCTGGGAACCGGAGGACTGTCGGTCCAGCCCATAAGGGGCTGCTGGGGACTAAACCTCAAGAAAAGTACCGAAGAAGGCTCTCCCCTGGCCTCAGCGAGACTACCCCAACATCCTAAACCTGTGCAGGCACTTCCGGGCGCCGGATTCCGGGATAACAAAATTCCAGTCAATTTGCCG
Seq C2 exon
TGTCTCAATTTAAAATGGTGAATTACTCCTATGATGAAGATCTGGAAGAGCTTTGTCCCGTGTGTGGAGATAAAGTGTCTGGGTACCATTATGGGCTCCTCACCTGTGAAAGCTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116833_MULTIEX1-1/3=C1-C2
Average complexity
ME(1-3[95=100])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.935 A=1.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0010513=zf-C4=PU(32.9=57.5)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
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:
GTCCAGGGAAAGACTTGCTTGT
R:
AGGAGCCCATAATGGTACCCA
Band lengths:
358-1054
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