HsaINT0083283 @ hg19
Intron Retention
Gene
ENSG00000123104 | ITPR2
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26564253-26568431:-
Coord C1 exon
chr12:26568236-26568431
Coord A exon
chr12:26564346-26568235
Coord C2 exon
chr12:26564253-26564345
Length
3890 bp
Sequences
Splice sites
5' ss Seq
CAGGTATTG
5' ss Score
8.35
3' ss Seq
ACTACTTTGTATTTTCTTAGGCA
3' ss Score
7.64
Exon sequences
Seq C1 exon
CTTTTTGATTTGGTGTACAGGGAAGAGACTTTGCTGAATGTCATAAAAAGTGTCACACGAAATGGCCGCTCTATTATTCTAACTGCAGTCCTGGCTCTCATCCTCGTCTACCTGTTTTCCATTATTGGGTTCCTTTTTTTGAAGGATGACTTCACTATGGAAGTTGATAGGCTGAAAAACCGAACTCCTGTTACAG
Seq A exon
GTATTGCTATTACCACTAAATGAGGTTTCTCTGATGGCAGATATGACTTGTGTGTAGCTTGTTAACAGGATCATAGATAAACACGAATAGAGGAAATGTTTTCTTTTATTCCTTTGAGAATATGTTTTGTTTACTACTAAGAGTCAGGAATGTGAAGTACTCTTAGGCTGTATATTAGCTGTCAATGTGTATAGGGAAATACTTACATGAGAAACACCATCCCAGCTCAGTCTCGGTAAGAAAGTTTCAATAAAGCTGACTATATTCCAAAAGATAGTCAACAACTTCAGTGCAGGATAATAACTTTAAAAATCTTTTCCTCCTCTTTTTCCCTGTCTCCCCAAAAATAACAGCTAGCATCATTCACAATCATTATTCCATACATGTTTGATCATAGTGTATCATATTATACTTAAATAACTGAAAATGATAAATGCTTTGATTTGAAACCACCAGATCATAAGAAATTTGCTCAAAATATTGAGCAAAAGAAGGAAGACATGCTCAAAATATTGGGATTAATGGACCAAATCTATCAGTGTGTGACTTTCAGAATTTCTATACTCTATTTTTGTCGTGACTGGTTAGGCACCGTCCATTTATAATCAGTGTGATTCCTGTGGTGTTAGGCTTTATTCTCTCCATGTTATTTTGATTTTTTTATTTATTAAGCTTTCTAAAGTGTTTTTCTCCCTTTCCTACCTTGTGTTGTTTTGGTTAAGCTTCTGAAGTTTATTATTCTTTTTCCTCCTCCCCTGCTTTGCTGGGTAGAAATCATAGTTCTGCACTTTGCTAATGGTTTCTCTGGGTGATTCTGCCGACTATGGGTTGTAGAGAATGGAAACCAAAATATGACACTCTTTCTCCTCAAACCGTTAAATGTAAAACTAGGATTTAATTAGTGATGCCTTGCAAATGGTATTCTGTCTTGCCTTTAACAAACATTTCTTAATTACTAAATTGACGATATATGGTAGTACTTAGATTATGGCACTTAAGTCTATTAGTAAGTCTCAGTCATCAAAGCACAGAATGGAAACATCATATATGTGGACTGGAAGTTATTAAACTTGAGACTGTCCTGAATTTTATACCTAGGTATTAGTCTTTATTCACAGGAACATAGAGTATTTTCTGTTACTGTCTTTCTTGTTCTTCTTCCTTAAATGTTACTTTTCCCAGAGTTTTACAGGTATAAATATGGGGACTTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACATATATACATGTAGACTATCTGCTTCCCAAAACCTCCACATTAATTACTTACTAGATTTGAGGCATGATGACACTGAGTAACTCAGTACAGATTGAGTCTAAAGCTGAATCGTAATTTATGAATTCAAAATGTGTGCAGTAGTTATTGTCTTACAAATCAAGTGGTAAATATTTTGTGCTATTTAAAAAGTAACTTGGTTATCATTGTGTTATGAACATAAATATTTTCTTTGGAAAAATGCCTTTTTTCTTTTTTTGTTTTTTACAAAATGGGCAGCAGTAGACCAGAAGTTTCAAGCTCTTTACTTAAAAATATTTATACACATTCATATAGAATGCTGTTCAATAAAGCTTTTATAAATACTATGAAAACCCAGCATATGGGGACAGTTAACAAAGTTAAACCCTTGATTATTCATATATTAAGAGTGTTTGTTTCATAGACTGAGATTATACATGACATGATGCCCTAGGAAAAACACCCTTGTTTTCATAATATTTCAAATTTCATTTCTAATGCCGCATATTGTCTCTATTGATACATAGTGCTAAGTTTATTCTTTCATGTATTGGACACTATTTACTTGCAAAGTTGACTATGTATATTGAGTGACATTATTGAGGACACCCCTGGGTAGCCAGTGAAATTTGGAGTGCAGAGAAATATGCAACTCTGTAGCGAATGAGAAGAAAAGATCAGAAAATCAGTTGGTGGGAGCAATGAGGGGAGGTTGAGTTCTAAAGCTGAATGGTAAAGCCATCACAGGGCCCTGTGAGAATAGAGGACGGGTAATTGGCAAATGCCATTGCAAACGCAGATCCTGCCTGCAGGACCAGAGGAATCTGGGTTGATAGATGAAGTAGCTGCCACTTGAGCAATGTTCAGAAAATTGGTGTCTTAGAAAAGTCTGTGAACTTAGAGAGAAGGATCTGTTGAGAAGTGGAGGTGACAGTTTCTCTCACCCACACCTGTCCCTCTTCCCCATTTTCAGCGCCATCCTCCTGTTTCTCACCCTTCTGTTTCTCACCTTCATTTCCACTCACCCAGAATTCTGCTGGAGCCACCTATGTGGCTTCCCCACCTATAGCCTCTCTTCTGCCTGCCCAAATTACTCATTCCAACCATAGCTCTCACTGTCTCTCATTGGTTCACAGCCTTTAGATCTGCACTGGATGTGGGGTTCTTGGTTTAAAGTAGTGGCTGGTAGCTCTGGTCACTCTGACTGGTCCATGCCTTCATTGGCCTCTGCGCCTTTTGTCAGACAAATTGTACCTGGAATCACCCCCTTTGCTCCCTGCCTTACCTTGATGAATCTAAGTCCTATGACTCCTTTAGATGGACCCTTTTCCAAAAAGCTTTCTGGGTTTTTTTCCCCCTCCTAGAATTCACTTCTTCCTCCTCTAATGTATTACATTAAAAAAGAAATCTGTACTTCACTCTCTCCAGTCAATTATAATTGTGTCTATATCTCTCTATGTCCTCTAGCTAACTGTTGTTCTTCCAGGCCTCAGCTCTGGGCCTGGGGGGCCTAGCAGGATGCTTCAGTAAGTATTAAGTAAGGGAATGGCCACAGGGCACACTCTTCTCTCACTTTCTGACCCCCCACACCCGCACACCCTCAACTCAGGATTAATGGGGATGTGCCCACCCTCAGGGGATGGAGGTAAATCTGTGTCTGGGGAGGACACTAGCTCTCTCAGCTCCAGTGTTTGTGTGGCTGGCAACCCCAGCCTCACTCTGCCTCCTCCTCCTCATGTTTCCTTCAAACTCCAGCTTTCCTTTGCCATTTCTACCCCATCTCAGCTGATTAGTCACAGTCAGGGTAATCATGGTGTGGCATTGCTGGGAAATGCACTTCAATACTGCTACAGCCTTTGTAGCTACAACTGGACCTACCCTTGTCTCTCCATCATGAAGACTTCCCTCGATGGCTCTATGGGAAAAATAGGTTTGAGAGGAACCTCTTTACTTCATATGTGTTACTAACAAAAACAACATTTAAAAAAATAAAACGTTGTTTCATACAAATAGGAGGGTTACTATTTTCTATTCTATTCTGTGTCAGGGAAATAGGTGGTGAGCCAGGAAGCAGATGGATTCCTGGGGACTATGGAAGAATAGAAGATCCTGAACACAGATCTGGCAGAAGATTTTTGCTCCCCAAGGCATATGATGCCCTTAGTTCCCTAGAGCCTGTACCTGACTGTTAGAACCACTACCAGCAGCAGTCCCTGCCTCAGTTGTAGGGACGAGTGGCTTAGGGCTCAGGGACTGCCAACTGCACTGAGGGGAATATGTTCCTGGCATCCCAAGTCAGAACCCTGAATGAGTTTGCCCATGGAAACATTATTACACATGGATGTAAAGGTCTACAGTATTAATACTTTATCTCAACCACTTAAAAAAGGTATAAAAGGCTTTTAGTGGGTTGGCCTATGAAGCTATTCTCCATTTATAAAATTGCTTCAATAGGCAAAACTGTGTTCAGAATTCCATACTAACTTCCTAGGACTTTAGGAACACAGCTAAGTTGGAGTATGAATGCCTTTAATTTACATATCTTTAGAACTGTAGGTTCAGTTTTCATCATGTGCATATTTGACTCTATATTATATACTACTTTGTATTTTCTTAG
Seq C2 exon
GCAGTCATCAAGTGCCTACTATGACTTTAACTACCATGATGGAAGCATGTGCCAAGGAGAACTGTTCACCCACAATTCCAGCTTCAAATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104-ITPR2:NM_002223:51
Average complexity
IR-S
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:
PF0052026=Ion_trans=FE(28.5=100)
A:
NA
C2:
PF0052026=Ion_trans=PD(17.3=81.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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)