Special

HsaEX6066605 @ hg19

Exon Skipping

Gene
Description
nuclear receptor subfamily 4, group A, member 1 [Source:HGNC Symbol;Acc:7980]
Coordinates
chr12:52435594-52449943:+
Coord C1 exon
chr12:52435594-52435713
Coord A exon
chr12:52448111-52448988
Coord C2 exon
chr12:52449814-52449943
Length
878 bp
Sequences
Splice sites
3' ss Seq
GGGGTCTCCTCTCTCTCCAGAGA
3' ss Score
8.93
5' ss Seq
AAGGTACCG
5' ss Score
9.67
Exon sequences
Seq C1 exon
GCCTCCACCATGGACAGAGGCCAGGCCCTGCCCCTCCCAGGCAGCCTGGCTCCTTCTGCTGGGCCCTGAAGGCAGACGGGATAATGTGGTTGGCCAAGGCCTGTTGGTCCATCCAGAGTG
Seq A exon
AGATGCCCTGTATCCAAGCCCAATATGGGACACCAGCACCGAGTCCGGGACCCCGTGACCACCTGGCAAGCGACCCCCTGACCCCTGAGTTCATCAAGCCCACCATGGACCTGGCCAGCCCCGAGGCAGCCCCCGCTGCCCCCACTGCCCTGCCCAGCTTCAGCACCTTCATGGACGGCTACACAGGAGAGTTTGACACCTTCCTCTACCAGCTGCCAGGAACAGTCCAGCCATGCTCCTCAGCCTCCTCCTCGGCCTCCTCCACATCCTCGTCCTCAGCCACCTCCCCTGCCTCTGCCTCCTTCAAGTTCGAGGACTTCCAGGTGTACGGCTGCTACCCCGGCCCCCTGAGCGGCCCAGTGGATGAGGCCCTGTCCTCCAGTGGCTCTGACTACTATGGCAGCCCCTGCTCGGCCCCGTCGCCCTCCACGCCCAGCTTCCAGCCGCCCCAGCTCTCTCCCTGGGATGGCTCCTTCGGCCACTTCTCGCCCAGCCAGACTTACGAAGGCCTGCGGGCATGGACAGAGCAGCTGCCCAAAGCCTCTGGGCCCCCACAGCCTCCAGCCTTCTTTTCCTTCAGTCCTCCCACCGGCCCCAGCCCCAGCCTGGCCCAGAGCCCCCTGAAGTTGTTCCCCTCACAGGCCACCCACCAGCTGGGGGAGGGAGAGAGCTATTCCATGCCTACGGCCTTCCCAGGTTTGGCACCCACTTCTCCACACCTTGAGGGCTCGGGGATACTGGATACACCCGTGACCTCAACCAAGGCCCGGAGCGGGGCCCCAGGTGGAAGTGAAGGCCGCTGTGCTGTGTGTGGGGACAACGCTTCATGCCAGCATTATGGTGTCCGCACATGTGAGGGCTGCAAGGGCTTCTTCAAG
Seq C2 exon
CGCACAGTGCAGAAAAACGCCAAGTACATCTGCCTGGCTAACAAGGACTGCCCTGTGGACAAGAGGCGGCGAAACCGCTGCCAGTTCTGCCGCTTCCAGAAGTGCCTGGCGGTGGGCATGGTGAAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123358-'1-8,'1-7,8-8=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.325 A=0.575 C2=0.000
Domain overlap (PFAM):

C1:
PF100904=DUF2328=PU(35.3=92.3)
A:
PF0010513=zf-C4=PU(38.6=9.2)
C2:
PF0010513=zf-C4=PD(58.6=93.2)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCACCATGGACAGAGGCC
R:
CTTCCTTCACCATGCCCACC
Band lengths:
248-1126
Functional annotations
There are 3 annotated functions for this event
PMID: 22002310
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI002018; ELM sequence: SATSPA; Overlap: FULL
PMID: 22002310
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI002019; ELM sequence: SAPSPS; Overlap: FULL
PMID: 22002310
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning. ELM ID: ELMI002306; ELM sequence: SPSTPS; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains