HsaINT0083271 @ hg38
Intron Retention
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26486104-26487251:-
Coord C1 exon
chr12:26487068-26487251
Coord A exon
chr12:26486361-26487067
Coord C2 exon
chr12:26486104-26486360
Length
707 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAAG
5' ss Score
8.27
3' ss Seq
AAGTACTGCTTTGTTTTCAGTAA
3' ss Score
4.8
Exon sequences
Seq C1 exon
TATTCTTTCTACCAGCAGTTGCATGAACAAAAAAAGTCAGAAAAATTCTTTAAAGTTCTCTATGATCGAATGAAGGCTGCTCAGAAAGAAATAAGATCAACAGTGACAGTTAATACCATAGATTTAGGTAACAAAAAAAGGGACGATGACAATGAATTGATGACATCTGGTCCACGAATGAGAG
Seq A exon
GTAAAGAAGTATTTGAGTATTTGGGAGAACAGAGTGAGAGAAAAGAGGGGAATAGCGTTTAAATCTCATTAACATTTTTCGTCTCTCTTCTCTTGGTTTAATTATCCCCACTGTGGCTCTGATCATCCATAAAGAATTTTGGTCATGGGGTGACCCTAAAACGGCTCTGCAGGACTAAACTTAAATGAGACATAATCAGTGCAAAGCAACCAACGGCATGAAAGATGTTTGATTTCATTGTGGCATGCATGGTAAATAGTAACTGCCCCAAATCTTTTAAGTGACCATGAAAATGAAACTTTAAAAACAGAAATTACCACACCAAACTCCAATGAAAGATTCTTGGTATTCAGAATGACAAAATCATCCATGTATTAAATACAAATCATAAAGACATTAACATTTTGAAGTTTGTCACATTTTCTTACCTCCTTGAATATGAAACTCATATACATGAATATATATATGTATATATCAGAAAGACATGAGTGCTTTTAAAATTTGCTAAGCATTGAGATCTTTTTTATGACCCACTGCAAATTTAATTTTTAAGTGCTCTCTCAAATCCTTTTTGGAAATTGTTGCACCTTTTGTCAGATTATTTTTAATTCAATTGTTAGAGAATTTGGGTACCTGGTTTGTTTTTTTTTTTTTAATTAGTAAAAGCAAATTGGTTCAGAAATATAAAAGTACTGCTTTGTTTTCAG
Seq C2 exon
TAAGAGATTCAACACTACATTTAAAAGAGGGAATGAAAGGGCAATTAACAGAAGCTTCTTCAGCAACATCCAAAGCATATTGTGTATACAGAAGAGAAATGGATCCAGAAATAGACATTATGTGCACAGGACCAGAAGCGGGAAACACTGAGGAAAAATCCGCAGAGGAAGTAACAATGAGTCCCGCAATTGCCATCATGCAGCCAATACTGAGATTTCTTCAGTTACTGTGTGAGAATCACAACCGGGAATTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104:ENST00000381340:40
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.324 A=NA C2=0.291
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF084546=RIH_assoc=PU(24.2=33.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCAGCAGTTGCATGAACAAA
R:
CCTCTGCGGATTTTTCCTCAGT
Band lengths:
342-1049
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