Special

HsaINT0083317 @ hg38

Intron Retention

Gene
Description
inositol 1,4,5-trisphosphate receptor type 3 [Source:HGNC Symbol;Acc:HGNC:6182]
Coordinates
chr6:33679882-33680454:+
Coord C1 exon
chr6:33679882-33680133
Coord A exon
chr6:33680134-33680328
Coord C2 exon
chr6:33680329-33680454
Length
195 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGG
5' ss Score
4.41
3' ss Seq
ACCTCCCGCCCACTGCCCAGGTG
3' ss Score
6.51
Exon sequences
Seq C1 exon
CTGACCAATGCAGGTGACGATGTGGTCGTGTTCTACAATGATAAGGCATCGCTGGCCCACCTGCTGGACATGATGAAGGCCGCCCGCGACGGCGTGGAGGACCACAGCCCCCTCATGTACCACATTTCCCTGGTGGACCTGCTGGCCGCCTGTGCCGAGGGCAAAAACGTCTACACTGAGATCAAGTGCACCTCCCTGCTGCCGCTGGAGGACGTGGTGTCTGTGGTGACGCATGAGGACTGCATCACTGAG
Seq A exon
GTGGGGATCGGGAGACTGGGCAAGACGGCTGGAGATGGGGCGAAGGGGTGGGTAAAGCCACGGGACAGGAAGAGTGGGTGAAGCAAAGCCAGGGAAGTGGGCAGGAACCGGAGGCCAGGGGACAGGAGCATTGTGGCAGGGAGAGCCTGGCCAGGCGGCCCTGCTTGCGCCCCTGACCTCCCGCCCACTGCCCAG
Seq C2 exon
GTGAAAATGGCCTATGTGAACTTCGTGAACCACTGCTACGTGGACACGGAGGTGGAGATGAAGGAGATCTACACCAGCAACCACATCTGGACGCTCTTTGAGAACTTCACCCTGGACATGGCCCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000096433:ENST00000374316:32
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:
PF0136516=RYDR_ITPR=PD(11.4=23.8)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACATTTCCCTGGTGGACCTG
R:
GCCATGTCCAGGGTGAAGTTC
Band lengths:
254-449
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