HsaEX0043730 @ hg19
Exon Skipping
Gene
ENSG00000136931 | NR5A1
Description
nuclear receptor subfamily 5, group A, member 1 [Source:HGNC Symbol;Acc:7983]
Coordinates
chr9:127243516-127265689:-
Coord C1 exon
chr9:127265573-127265689
Coord A exon
chr9:127262369-127262994
Coord C2 exon
chr9:127243516-127245284
Length
626 bp
Sequences
Splice sites
3' ss Seq
CCCTCTGCCCCTGCCCACAGCCG
3' ss Score
11.68
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GCGGACGCCGCGGGCATGGACTATTCGTACGACGAGGACCTGGACGAGCTGTGCCCCGTGTGCGGGGACAAGGTGTCCGGCTACCACTACGGACTGCTCACGTGTGAGAGCTGCAAG
Seq A exon
CCGTGCGCGCTGACCGTATGAGGGGTGGCCGGAACAAGTTTGGGCCGATGTACAAGCGGGACCGGGCCCTGAAACAGCAGAAGAAGGCACAGATTCGGGCCAATGGCTTCAAGCTGGAGACAGGGCCCCCGATGGGGGTGCCCCCGCCGCCCCCTCCCGCACCGGACTACGTGCTGCCTCCCAGCCTGCATGGGCCTGAGCCCAAGGGCCTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCACTGGCTGGCTACCTCTACCCTGCCTTTCCTGGCCGTGCCATCAAGTCTGAGTACCCGGAGCCTTATGCCAGCCCCCCACAGCCTGGGCTGCCGTACGGCTACCCAGAGCCCTTCTCTGGAGGGCCCAACGTGCCTGAGCTCATCCTGCAGCTGCTGCAGCTGGAGCCGGATGAGGACCAGGTGCGGGCCCGCATCTTGGGCTGCCTGCAGGAGCCCACCAAAAGCCGCCCCGACCAGCCGGCGGCCTTCGGCCTCCTGTGCAGAATGGCCGACCAGACCTTCATCTCCATCGTGGACTGGGCACGCAGGTGCATGGTCTTCAAGGAGCTGGAG
Seq C2 exon
ATTTGAAGTTCCTGAATAACCACATCCTGGTGAAAGACGCTCAGGAGAAGGCCAACGCCGCCCTGCTTGACTACACCCTGTGCCACTACCCGCACTGCGGGGACAAATTCCAGCAGCTGCTGCTGTGCCTGGTGGAGGTGCGGGCCCTGAGCATGCAGGCCAAGGAGTACCTGTACCACAAGCACCTGGGCAACGAGATGCCCCGCAACAACCTGCTCATCGAAATGCTGCAAGCCAAGCAGACTTGAGCCTGGGCCGGGGGCGGGGCCGGGACTGGGGGCGGGACTGGGGGCGGGGCCTGGGCGGGGCCGCAGCCACACCGCTGGCTCCGCATGGTTCATTTTCTGATGCCCACCGAGGAGCCCCAGCCCCGTCCCAGAGGCCGCTGCCCCTGAGTTCTGACACTGTGTGTTTGGGAAGGTGGGTGAGGCTGGGCAGGGCCTGGCGGAGGTGGAGTGGCCACTGGCACTTGCCTGCTGCTTGGAGTGCCCCAAGGAGGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136931_MULTIEX1-2/4=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.515 C2=0.000
Domain overlap (PFAM):
C1:
PF0010513=zf-C4=PU(32.9=67.6)
A:
PF0010425=Hormone_recep=PU(19.8=19.6)
C2:
PF0010425=Hormone_recep=PD(36.2=90.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGGCATGGACTATTCGTACG
R:
GCTTGCAGCATTTCGATGAGC
Band lengths:
342-968
Functional annotations
There are 1 annotated functions for this event
PMID: 19995909
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, gal4 vp16 complementation, mutation analysis. ELM ID: ELMI002003; ELM sequence: PYASPP; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)