Special

HsaINT0083247 @ hg38

Intron Retention

Gene
Description
inositol 1,4,5-trisphosphate receptor type 2 [Source:HGNC Symbol;Acc:HGNC:6181]
Coordinates
chr12:26655708-26656548:-
Coord C1 exon
chr12:26656297-26656548
Coord A exon
chr12:26655853-26656296
Coord C2 exon
chr12:26655708-26655852
Length
444 bp
Sequences
Splice sites
5' ss Seq
TGAGTATGT
5' ss Score
4.43
3' ss Seq
TCTTCTTTCTCTATTTCCAGATA
3' ss Score
11.79
Exon sequences
Seq C1 exon
GTACCAGCTAAACCTCTTTGCAAGGATGTGCTTGGATCGCCAGTATCTGGCCATAAACCAGATTTCTACACAGCTGTCTGTAGACCTGATCCTGCGGTGTGTGTCGGATGAGAGCCTGCCGTTCGACCTCCGAGCGTCCTTCTGTCGCCTCATGCTCCACATGCACGTTGACCGGGATCCCCAGGAGTCCGTGGTGCCTGTTCGCTATGCCAGGCTCTGGACAGAAATCCCCACAAAGATCACAATTCATGA
Seq A exon
GTATGTTTGGAAAAAGGTCTTGAGGCTTTGGAATTCATCAGATGAACTCCACGTCAAATGTCTACAGTTTTGAAATGAAACATGTGGAAAGGCATTTGTGTATCCTGTCTTGGGTTGTTAATCTTCTAAATGCAAATAAGATACTCGTTTTGAAGGGTGAAATGATAACTCTCAGTGGTAATAAAGGCACTTTCTAGAAAACAGTAAATAATATTGATGTAATGAGCAAGAATTGTAAGTACTTAATATTGTGGTAGACTGATATAACTGCTTTACACGTGCTAACTCATTTCACAATAGCCCCATTTTACAGATGAGGACCCAGCCTCTAGGAAAGCTAACTAATTTATCCAAGATTATGCACCCAGGAAACTACGTGTGTTTTCCTATTTTTAAATGATTGCAATCAGTTTAACTTGCGTTATCTTCTTTCTCTATTTCCAG
Seq C2 exon
ATATGATTCTATAACAGACTCTTCCAGAAATGATATGAAGAGGAAATTTGCCCTGACAATGGAATTTGTTGAAGAATATTTGAAAGAAGTTGTAAACCAGCCCTTTCCTTTTGGGGATAAAGAAAAAAATAAACTGACATTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123104:ENST00000381340:19
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAAGGATGTGCTTGGATCG
R:
CCCAAAAGGAAAGGGCTGGTT
Band lengths:
349-793
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