Special

HsaINT0072112 @ hg38

Intron Retention

Gene
Description
general receptor for phosphoinositides 1 associated scaffold protein [Source:HGNC Symbol;Acc:HGNC:18707]
Coordinates
chr12:52010881-52011141:+
Coord C1 exon
chr12:52010881-52010935
Coord A exon
chr12:52010936-52011038
Coord C2 exon
chr12:52011039-52011141
Length
103 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGA
5' ss Score
6.71
3' ss Seq
GGTCCCCTTGTCCATTACAGACT
3' ss Score
7.6
Exon sequences
Seq C1 exon
GAAAGTGCTGACGTTGGAGAAGGAGGATAACCAGACCTTCGGCTTTGAGATCCAG
Seq A exon
GTGGGAGAAGCTGCACACAGGGGTCAGGGGGGTTGGATGACCAGCCTGAGGGATGAACGGACTTGTCCCAACCCTGGGCTGAGGGTCCCCTTGTCCATTACAG
Seq C2 exon
ACTTATGGCCTTCACCACCGGGAGGAGCAGCGTGTGGAAATGGTGACCTTTGTCTGCCGAGTTCATGAGTCTAGCCCTGCCCAGCTGGCTGGGCTCACACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000161835:ENST00000293662:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.526 A=NA C2=0.067
Domain overlap (PFAM):

C1:
PF0059519=PDZ=PU(18.4=84.2)
A:
NA
C2:
PF0059519=PDZ=PU(36.8=95.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCTGACGTTGGAGAAGGAG
R:
CTGGTGTGAGCCCAGCCAG
Band lengths:
154-257
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development