Special

HsaEX0043717 @ hg19

Exon Skipping

Gene
Description
nuclear receptor subfamily 4, group A, member 1 [Source:HGNC Symbol;Acc:7980]
Coordinates
chr12:52449814-52451043:+
Coord C1 exon
chr12:52449814-52449943
Coord A exon
chr12:52450278-52450429
Coord C2 exon
chr12:52450841-52451043
Length
152 bp
Sequences
Splice sites
3' ss Seq
CCCTACCCATTCCTTTGCAGTTG
3' ss Score
9.21
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
CGCACAGTGCAGAAAAACGCCAAGTACATCTGCCTGGCTAACAAGGACTGCCCTGTGGACAAGAGGCGGCGAAACCGCTGCCAGTTCTGCCGCTTCCAGAAGTGCCTGGCGGTGGGCATGGTGAAGGAAG
Seq A exon
TTGTCCGAACAGACAGCCTGAAGGGGCGGCGGGGCCGGCTACCTTCAAAACCCAAGCAGCCCCCAGATGCCTCCCCTGCCAATCTCCTCACTTCCCTGGTCCGTGCACACCTGGACTCAGGGCCCAGCACTGCCAAACTGGACTACTCCAAG
Seq C2 exon
TTCCAGGAGCTGGTGCTGCCCCACTTTGGGAAGGAAGATGCTGGGGATGTACAGCAGTTCTACGACCTGCTCTCCGGTTCTCTGGAGGTCATCCGCAAGTGGGCGGAGAAGATCCCTGGCTTTGCTGAGCTGTCACCGGCTGACCAGGACCTGTTGCTGGAGTCGGCCTTCCTGGAGCTCTTCATCCTCCGCCTGGCGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123358-'10-10,'10-9,11-10
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=0.353 C2=0.000
Domain overlap (PFAM):

C1:
PF0010513=zf-C4=PD(58.6=93.2)
A:
NO
C2:
PF0010425=Hormone_recep=PU(31.4=86.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACAGTGCAGAAAAACGCCAA
R:
GCAAAGCCAGGGATCTTCTCC
Band lengths:
253-405
Functional annotations
There are 2 annotated functions for this event
PMID: 11274386
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis, protein kinase assay. ELM ID: ELMI000100; ELM sequence: RGRLPSKPK; Overlap: FULL
PMID: [1]
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: mutation analysis. ELM ID: ELMI000099; ELM sequence: RGRLPSKPK; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development