Special

HsaEX6066601 @ hg38

Exon Skipping

Gene
Description
general receptor for phosphoinositides 1 associated scaffold protein [Source:HGNC Symbol;Acc:HGNC:18707]
Coordinates
chr12:52013687-52014201:+
Coord C1 exon
chr12:52013687-52013780
Coord A exon
chr12:52013877-52013943
Coord C2 exon
chr12:52014135-52014201
Length
67 bp
Sequences
Splice sites
3' ss Seq
CTTTGATTCTCCAACCTCAGACT
3' ss Score
5.7
5' ss Seq
AAGGTAGGG
5' ss Score
8.76
Exon sequences
Seq C1 exon
GGGACACCATCGCCAGCGTCAATGGCCTGAATGTGGAAGGCATCCGGCATCGAGAGATTGTGGACATCATTAAGGCGTCAGGCAATGTTCTCAG
Seq A exon
ACTGGAAACTCTATATGGGACATCAATTCGGAAGGCAGAACTGGAGGCTCGTCTGCAGTACCTGAAG
Seq C2 exon
CAAACCCTGTATGAGAAGTGGGGAGAGTACAGGTCCCTAATGGTGCAGGAGCAGCGGCTGGTGCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000161835-'10-17,'10-16,12-17
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=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0059519=PDZ=FE(35.6=100)
A:
PF0059519=PDZ=PD(10.5=17.4)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCATCGCCAGCGTCAATG
R:
CTGCTCCTGCACCATTAGGGA
Band lengths:
143-210
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains