HsaINT0083246 @ hg38
Intron Retention
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26656297-26657892:-
Coord C1 exon
chr12:26657707-26657892
Coord A exon
chr12:26656549-26657706
Coord C2 exon
chr12:26656297-26656548
Length
1158 bp
Sequences
Splice sites
5' ss Seq
CAGGTTAAG
5' ss Score
3.6
3' ss Seq
ATATGTTTACCATTTTTAAGGTA
3' ss Score
7.72
Exon sequences
Seq C1 exon
GGTGGTCTCAATGCAAGCAGACAACCCCATGGAGAGCTCCATCCTTTCAGATGACATTGATGATGAAGAAGTTTGGCTCTATTGGATTGACAGCAACAAGGAACCTCATGGCAAAGCTATCAGGCACCTTGCTCAAGAGGCAAAAGAAGGCACCAAAGCTGACTTAGAAGTTCTTACCTATTACAG
Seq A exon
GTTAAGTATTATAGACAATCTTACAATAATTCCCAGTCTCACATATTAATTGAGAACTGGTTCTCTGTAGCCACTAGTTAGGTATCTATGAAGAGGCAATTTTAAAAGTCATGTCAGAACTAGGGTAGCTGAAATATTTAGTATTGTTTAAAATATTCAAAATAAAAGTTAACATTTATATTTTCTGCATACACCACTTGTAATTTCCTGGTTTCTCACTAGCTTGGAATTATTGTGCAGCCAAAGGCTTTGTCCTCATATTGAGTAGAGTGGAGGCAGATGAGAGGCATGTTAGGACCTAGGTGATGGAGTTGAGAGGGATATAGACATGGAGCTAAGGAAATTGATCTGGCTACAAGGGTAGCTCAGAGCAAGTAAGCCAGTAGTTTAGTATAGAGTGGATTATGAATATGTGGTGACCTAGAGCCTAAGAGAAACTGGTGCCTGTAGTTAACGAAAGTTCAGCCCCGGAATATGGCAGCGGAAGTACTGAAGGCAGTTCCTGGTGGTCAATATATTGGGAGCAAGAACCTAGCTGGCATCTTTGAGTTGCAGGTATAGAAACCCAAGGCAGAAGCCTTGGGGCCAAGTTGGGCCCAAATGGCAAGAATCAGACAAAGACAGATGACGCTTTGTGCTCCCTGGTTTCTACAGCTATAGCAACCAAATCAAAGGCTAATTCTTAATCTCAAAACTGGGCTGATAAGCCAAGTGACTCATGCCATTTGGACTGATCACTTTTGGTTTGGGAACTGAGTGGGGCAAAACCTGGAGTGTAGACACTAGAGCTAGAAGCTGAGTGAGGCTGGCGAAGGTGGAGAGAGATGGTTTCATGTGAGCTGTTACCCATAGCCTTCAGCCTGAGTGCAGTATTTGTCATTCTAGGAAACCCAGAATGGAGTGCCTAGTGACACTCTCCAGCAGACACATTTTGCTGAAACAAGTAAGAGGTATTGTAACTGAAGGGACATAGAGACAGTTTCATATATGTCTTGTCATTTGATCTTAATGGTTAACATACTACAGTCAAGAGTTTGACTCCAATATCATGAATGCTTGGAAATACAGGTGTCTTAAACATAGATACTGATTGGTACTATGACGTTTAAAGATTTCCTTGAGATAAGACAATAATGTAATATGTTTACCATTTTTAAG
Seq C2 exon
GTACCAGCTAAACCTCTTTGCAAGGATGTGCTTGGATCGCCAGTATCTGGCCATAAACCAGATTTCTACACAGCTGTCTGTAGACCTGATCCTGCGGTGTGTGTCGGATGAGAGCCTGCCGTTCGACCTCCGAGCGTCCTTCTGTCGCCTCATGCTCCACATGCACGTTGACCGGGATCCCCAGGAGTCCGTGGTGCCTGTTCGCTATGCCAGGCTCTGGACAGAAATCCCCACAAAGATCACAATTCATGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104:ENST00000381340:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.082 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0136516=RYDR_ITPR=PD(3.9=12.7)
A:
NA
C2:
NO
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:
GGTGGTCTCAATGCAAGCAGA
R:
GTCAACGTGCATGTGGAGCAT
Band lengths:
358-1516
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