Special

HsaINT0083246 @ hg19

Intron Retention

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 2 [Source:HGNC Symbol;Acc:6181]
Coordinates
chr12:26809230-26810825:-
Coord C1 exon
chr12:26810640-26810825
Coord A exon
chr12:26809482-26810639
Coord C2 exon
chr12:26809230-26809481
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-ITPR2:NM_002223:18
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.079 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


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:
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