Special

HsaINT0083229 @ hg38

Intron Retention

Gene
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4814423-4815218:+
Coord C1 exon
chr3:4814423-4814562
Coord A exon
chr3:4814563-4815052
Coord C2 exon
chr3:4815053-4815218
Length
490 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
3' ss Seq
CAGACACCTCTCTTTTCCAGGAA
3' ss Score
8.8
Exon sequences
Seq C1 exon
AGCTGGTCCCTGCAGAAGAGACGGAACAGGATAAAGAGCACACATGTGAGACGCTGCTGATGTGCATTGTCACTGTGCTGAGTCACGGGCTGCGGAGCGGGGGTGGAGTAGGAGATGTACTCAGGAAGCCGTCCAAAGAG
Seq A exon
GTAAATTAATCCCGAGGGGAAGGAAGGGCAAAGGGGGCGGGTGGGGTGGTTGGTGGGAGCACCATGCAGCGGTGTTGAGTGTAAACTGAAGACGCAGAGGAAGAGCTGGGAGTAGGGCTGAGTAGCTGCGGAACTAGCTCATCAGGCTCCTTTCCTCTCTATCACGTGAGGTGGTGCCGCAAAGTCAGCTGCGTGGAAAGGGTTGGCTTTGGCTCTCTGTTCAGTAGACTTAGGGACTGTTTCCATCAGGGTTAGGCCTGATCCACCTGAACGCACAGTGAATATCCCTCCTGGCTGTGTCACACCACACTTGGAGAAGTCGCAATTGAGACAGGGGACATGAAAAGAGATGCAGTTTTCAGTTTAAAAGTTGAATGCCCAATTTAATTTCTACCCAAGTAGATGAGGTCTCACTTGAGCTGTGCCCCAGGCTCCGCAGACCAAAGGGTCGCAAGGGACCCAGACTGATCCAGACACCTCTCTTTTCCAG
Seq C2 exon
GAACCCCTGTTTGCTGCTAGAGTTATTTATGACCTCTTGTTCTTCTTCATGGTCATCATCATTGTTCTTAACCTGATTTTTGGGGTTATCATTGACACTTTTGCTGACCTGAGGAGTGAGAAGCAGAAGAAGGAAGAGATCTTGAAGACCACGTGCTTTATCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995:ENST00000357086:55
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.191 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0052026=Ion_trans=FE(17.9=100)
A:
NA
C2:
PF0052026=Ion_trans=PD(11.3=51.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGTCCCTGCAGAAGAGACG
R:
CACAGATAAAGCACGTGGTCT
Band lengths:
304-794
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