HsaINT0083215 @ hg19
Intron Retention
Gene
ENSG00000150995 | ITPR1
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4808214-4810448:+
Coord C1 exon
chr3:4808214-4808394
Coord A exon
chr3:4808395-4810194
Coord C2 exon
chr3:4810195-4810448
Length
1800 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
3' ss Seq
GCCTTATGCTTGCTTTCTAGCTA
3' ss Score
8.31
Exon sequences
Seq C1 exon
CACTCCTTTTTCTGTCGCTTGACAGAAGATAAGAAGTCAGAGAAATTCTTTAAGGTGTTTTATGACCGGATGAAGGTGGCCCAGCAAGAAATCAAAGCAACAGTGACAGTGAACACCAGTGACTTGGGAAATAAAAAGAAAGACGATGAGGTAGACAGGGATGCCCCATCACGGAAAAAAG
Seq A exon
GTAAATGTTCCTCAGTCTTCAGTCAGCTGGATCATGAACACCAGAAGAGTCCTTGTTATCCTTCATTGTTTTCATTACTTCTGTGCTCTAAAATGCATTATGATGGGAGCTTTCAGAAGAAATGCCAGCCTGGTTATGATGTAATTCTTCCTCAGTGACCTGAGCTGAAGCCCTGCTGCTCAGAAGGATCTTCCTGTTTAATAAAGAACATTCCTCTTGGTCGAGCTTAGGGTTTTATTGGCAAGGGATCCATGAATAATCTTTTCCTGTGATTCCTATTCAATGTTAGAGAAAGTTGAGGGAAATACGTATTTTAAAACTGGGTGTTAGTCCTTTGTCAGATAATGTTCTTTTGTTTTCCGAGGTATTGGAAAGCTTATAAAGCTTTTTATCCAGTATCTCACCAGAAGAGAAGTCGTACTGGGCAGTGGGTAGACCCACAAGTGTTGGAGTCAGATGGTCTTGAGAAAGTTAAGCATGCTGAGCCTCACGTTTCAAGTTTAGAACTGGGTTTCTCAACCACAGTACAAGTGACATTTGGAGAATTCTTTGTTACAGGACTGTCTGGCTGTCCTGTGCACTGTAAGATACTTAGCAGCATACACATTCTCTACCCAGTAGATGCCAGCAGCATACCCCTACTCCCAGAATATCTCCAGACATTGCCAGTTGTCCCCTGGGCGGGGTTGGGGGCAAAATCACCCCTGGCTGAGAACAGCTGGTCTAGACAGGAGCTAAAGAGAAGAAAAAGAAGAATGGCTACCATTTACTAAGTGCTTACTAGGAATCAGGCACTGTTCAACGTTCTTTTTTAAAAAACGAAATCTTGGCTCTGTCTCACTCTGTTGCCCAGGTTAGAGTGCAGTGGCACGATCATTGCTCACTGCAACGTCCAACTCCTGGGCCCAGATGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTGCAAGTATGCACCACTACATCTGGCTGATGTTTAAAACAATTTTTTGTTTTGTAGAGATGGAATCTCACTATGTTGCCCAAGTTGGTCTAAAACTTCTGGCCTCAAGTGATCCTCTTGAGTAGCTGGGATTATAGTCCAGCCACTGCGCTGGACTGTTCAAAGTTCTTTACAGTTCCCCTCATTTCAGACTCATGTCACCACCGCAAGATAGATACAATTGAGGTACCTCCATTTTACAGATGAGGGGACTGGGGCACAGAGATGGTAATTAAGTCATTACGGACATGCAGCTAGGAGGCAGTGGAGCCAGCATTCGAACCCAGCGTGTCTGGCCGCAGAGTCAGTACTGCTAACTGTAATGCCATAACTACCTCACAGGGTTATTCTGAGGATGAGATAAAATAACACACACAAAGTTCTTCATCACAGTGCTTTGATAGTTACAGAAGGGTCAGGCATTACGACAACAATAATTGTGATTAGCATTATGTTGAGCTTCTTAAGAACTTTCTTGAGATGTTATTCACGGATGCTCTCCCATTTTAAAGATCAGGAAGCTGAGGCCCAGAACCTTAGATGTGTGAGGCTGACAGAACCTGTGCTGAGGCTTTTCCTCTGAAACACACTGTACACGTAGGTGAAATGGTAGATCCACAAGTAAGGTGGCAGGGCCTGGCTCGGTTTTAATCCTGTCTGAGGACTGAGAGCAGATTGTGACTTCTTTGAGTGTTTTGCCAACTTTGAACGTCTCTAGGAGATAAAGGAATGTAGGTTTCTGAGTGTCACCTTTGGAGTGGTGAATAGGGCCCATGAGGACTCTGCAGCCTTTCATGCCTTATGCTTGCTTTCTAG
Seq C2 exon
CTAAAGAGCCCACAACACAGATAACAGAAGAGGTCCGGGATCAGCTCCTGGAGGCCTCCGCTGCCACCAGGAAAGCCTTCACCACTTTCAGGAGGGAGGCTGATCCCGACGACCACTACCAGCCTGGAGAGGGCACCCAGGCCACTGCCGACAAGGCCAAGGACGACCTGGAGATGAGCGCGGTCATCACCATCATGCAGCCCATCCTCCGCTTCCTTCAGCTCCTGTGTGAAAACCACAACCGAGACCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-ITPR1:NM_002222:41
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.393 A=NA C2=0.435
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF084546=RIH_assoc=PU(24.2=34.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCCAGCAAGAAATCAAAGC
R:
GCAGGTCTCGGTTGTGGTTTT
Band lengths:
356-2156
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)