Special

HsaINT0083271 @ hg19

Intron Retention

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26639037-26640184:-
Coord C1 exon
chr12:26640001-26640184
Coord A exon
chr12:26639294-26640000
Coord C2 exon
chr12:26639037-26639293
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-ITPR2:NM_002223:40
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.332 A=NA C2=0.291
Domain overlap (PFAM):

C1:
PF0138316=CpcD=PD(78.6=53.2)
A:
NA
C2:
PF084546=RIH_assoc=PU(24.2=33.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
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