Special

HsaEX6066604 @ hg38

Exon Skipping

Gene
Description
nuclear receptor subfamily 4 group A member 1 [Source:HGNC Symbol;Acc:HGNC:7980]
Coordinates
chr12:52056494-52057530:+
Coord C1 exon
chr12:52056494-52056645
Coord A exon
chr12:52057057-52057259
Coord C2 exon
chr12:52057352-52057530
Length
203 bp
Sequences
Splice sites
3' ss Seq
CCACTGGACCGTCTTCCTAGTTC
3' ss Score
4.74
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
TTGTCCGAACAGACAGCCTGAAGGGGCGGCGGGGCCGGCTACCTTCAAAACCCAAGCAGCCCCCAGATGCCTCCCCTGCCAATCTCCTCACTTCCCTGGTCCGTGCACACCTGGACTCAGGGCCCAGCACTGCCAAACTGGACTACTCCAAG
Seq A exon
TTCCAGGAGCTGGTGCTGCCCCACTTTGGGAAGGAAGATGCTGGGGATGTACAGCAGTTCTACGACCTGCTCTCCGGTTCTCTGGAGGTCATCCGCAAGTGGGCGGAGAAGATCCCTGGCTTTGCTGAGCTGTCACCGGCTGACCAGGACCTGTTGCTGGAGTCGGCCTTCCTGGAGCTCTTCATCCTCCGCCTGGCGTACAG
Seq C2 exon
GTCTAAGCCAGGCGAGGGCAAGCTCATCTTCTGCTCAGGCCTGGTGCTACACCGGCTGCAGTGTGCCCGTGGCTTCGGGGACTGGATTGACAGTATCCTGGCCTTCTCAAGGTCCCTGCACAGCTTGCTTGTCGATGTCCCTGCCTTCGCCTGCCTCTCTGCCCTTGTCCTCATCACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123358-'38-47,'38-46,45-47=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.353 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0010425=Hormone_recep=PU(31.4=86.8)
C2:
PF0010425=Hormone_recep=FE(31.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCGAACAGACAGCCTGAAG
R:
GAAGGCAGGGACATCGACAAG
Band lengths:
298-501
Functional annotations
There are 1 annotated functions for this event
PMID: 22002310
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, glutathione s tranferase tag, pull down. ELM ID: ELMI002017; ELM sequence: AELSPA; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains