Special

HsaEX6063840 @ hg19

Exon Skipping

Gene
Description
retinoid X receptor, alpha [Source:HGNC Symbol;Acc:10477]
Coordinates
chr9:137211284-137300145:+
Coord C1 exon
chr9:137211284-137211330
Coord A exon
chr9:137293478-137293728
Coord C2 exon
chr9:137299995-137300145
Length
251 bp
Sequences
Splice sites
3' ss Seq
TGCGGCTTCTTGTCTTGCAGATT
3' ss Score
11.08
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GTCTCTGTCACTCCCGGGCAGGAGGAGACAGTGATGACGGGAAGGAG
Seq A exon
ATTTCTCCACCCAGGTGAACTCCTCCCTCACCTCCCCGACGGGGCGAGGCTCCATGGCTGCCCCCTCGCTGCACCCGTCCCTGGGGCCTGGCATCGGCTCCCCGGGACAGCTGCATTCTCCCATCAGCACCCTGAGCTCCCCCATCAACGGCATGGGCCCGCCTTTCTCGGTCATCAGCTCCCCCATGGGCCCCCACTCCATGTCGGTGCCCACCACACCCACCCTGGGCTTCAGCACTGGCAGCCCCCAG
Seq C2 exon
CTCAGCTCACCTATGAACCCCGTCAGCAGCAGCGAGGACATCAAGCCCCCCCTGGGCCTCAATGGCGTCCTCAAGGTCCCCGCCCACCCCTCAGGAAACATGGCTTCCTTCACCAAGCACATCTGCGCCATCTGCGGGGACCGCTCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186350-'1-6,'1-5,6-6=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.905 C2=0.490
Domain overlap (PFAM):

C1:
NA
A:
PF118253=Nuc_recep-AF1=PU(68.8=91.7)
C2:
PF118253=Nuc_recep-AF1=PD(29.5=64.7),PF0010513=zf-C4=PU(15.7=21.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCTGTCACTCCCGGGCA
R:
GCAGATGGCGCAGATGTG
Band lengths:
180-431
Functional annotations
There are 1 annotated functions for this event
PMID: 11162439
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, protein kinase assay. ELM ID: ELMI001406; ELM sequence: GRGSMAA; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains