Special

HsaINT0083330 @ hg38

Intron Retention

Gene
Description
inositol 1,4,5-trisphosphate receptor type 3 [Source:HGNC Symbol;Acc:HGNC:6182]
Coordinates
chr6:33686409-33687104:+
Coord C1 exon
chr6:33686409-33686519
Coord A exon
chr6:33686520-33687008
Coord C2 exon
chr6:33687009-33687104
Length
489 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGG
5' ss Score
5.87
3' ss Seq
CCCTCTGCCCCTCCACCCAGGAC
3' ss Score
11.07
Exon sequences
Seq C1 exon
ACTTGCATTGTGACTCACGAGTCCAATGGCATAGACATCATCACCGCACTGATCCTCAATGACATCAGCCCCCTGTGCAAGTACCGCATGGATCTGGTGCTGCAGCTCAAG
Seq A exon
GTGGGGCCCAGTGGCAGGTGTGTGAGTGCTGGGTGTGCATGTGATGTGCATGCATGTATGTGTGACTTGTGTGTCAAGTGTACATAGTGGTGTGTAATGTGGGTGTTAGCATTGTGTGATGGGGCATCATCTGGATGCACAAGTGTGTGGTGTGTGCAGGGTGTGTGTGTAATATACGCATGTTTAAGCATGCTGGAACATACACTCACTCTGGATGCAAATATATTCTGGTTTAGCTGAGGACTTGCTATGTGTGTGTCTGCTGTCTGGGTAGCTGAGTGTTTGCCACAGCGGGGGTGAAGGCAAGCCTATGGGTGGGCTGGCTGTGCAGGATGCTTCTCATTAAGCCGGGGGGAGGGAGGATGGGAAGGTCATGGCACCTGACCTTTTGTTGGATGGGAGAGCTGTTATGGAGAGGAATGAGGGAGAAGTTGTCAGGGGCATGGTGTCCTGAGACTGTGGCCTGCCTCCCTCTGCCCCTCCACCCAG
Seq C2 exon
GACAATGCCTCCAAGCTGCTCCTGGCTCTGATGGAGAGCCGGCATGACAGTGAAAATGCTGAGCGAATCCTCATCAGCCTGCGGCCCCAGGAGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000096433:ENST00000374316:44
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.031
Domain overlap (PFAM):

C1:
PF084546=RIH_assoc=PD(18.3=59.5)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTGCATTGTGACTCACGAGT
R:
GGCTGATGAGGATTCGCTCAG
Band lengths:
190-679
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development