Special

HsaINT0083347 @ hg19

Intron Retention

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 3 [Source:HGNC Symbol;Acc:6182]
Coordinates
chr6:33627243-33630451:+
Coord C1 exon
chr6:33627243-33627326
Coord A exon
chr6:33627327-33630304
Coord C2 exon
chr6:33630305-33630451
Length
2978 bp
Sequences
Splice sites
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
3' ss Seq
CCACACCCTGCTGCCTGCAGGGA
3' ss Score
7.28
Exon sequences
Seq C1 exon
GTCAATTCTGTGAACTGCAACACCAGCTGGAAGATCAACCTGTTTATGCAGTTTCGGGACCACCTGGAGGAGGTGTTGAAAGGG
Seq A exon
GTAAGGACTGGGAACCCCTGCCCTGCCCAGCTGGCCACCTAGCCCTCCCCACCAGGGCCCTCTTCCTGCCTTCTCCACCCGCCAGGCCTCAGGCCCTTACCCTCTCCCCAGCTTTGCACCCCCCAGCCTCCCTCCACCTCCACAGGGCCCCACCCACATGGCCCTACCAGGGCTGCCGCTTCTCTCGTCTCTGGCCACAGCTCCCTTCTCCATTCTCCCTGGGTCCTGCCTGGTCTTTGTTTTCTCCCTTGTTTAAGGGGGTGTCAGTGGACTGGGGGTCTCCATCCCCCCACCACCCAGAGCCTTTGAGCACCTTCCTCTCCCCAACTCCTGCTGCCTGGATCCACACCAGGCCCCCGCCCCTTGCCCTGTGCCCTCATTGGCAAGCGAGTGAGGCTGCCCTGTCTGCTGAGTTAGGGGTCACCGCCTGTCTCCTTCCTGGTCCCAGACATGCTGGTGTGGGCTCTGGGAGAGAAGGGAGGCCTGGGAAATACTGCAGTGAAGACTTCGGGAGGATCCAGGACTGAGGGCAGAGGGAGCTGTCTGGGGCCACCAGAGAGACCATTCAAGAAACCCTGAACAGCAGATGTGGGCGAGAGAGGAGAGTTCAGATGTCTCTTGGGTGGGGCTGCAAGGGATGGAACCAGCAGACGGGGTGTAGACGGTCTTGAGGGAGGGCAGATCTGTAGAGTGTGAGGCTGTCCAGCTAGGGGAGCAGGCAGGAACATCAGCTGTGAAACCTGTTAGAGGGACAGGTGACAGGCCCGAGAGCAGCCACCTAAGGAGTCTTAGGTGCTCCTCCCTGCTCGGAAGCTGCAATGGCTCCCTTTGCCCTCCTCCCCACGCTGAGCTGCTCTGTTAGACTCTCCTGCCCTGCTCAGGCTGCCTCAGTCCCCCACCCTCCTCATCCTTCTTACCTCCTGGGCTGCTTCCCGTCTACCCATGCCCTGCCCCAATGCCTTCTCCCTCCCTCCCTCCCTTAAATCTGCACATCATCCACACATTAATCAAGGTGCAGCCATGCACTACCCCTCCTGGAAGCCTTCCCTAATGTTCCAGCCCCGAATCTGTGCAGCACTTAGGAAATGAAGCATCTTGGCCGGGCGGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACTTGAGGTCAGGAGCTCAAGACCAGCCTGGCCAACGTGGAGAAAGCCCTTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGCAGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGTGGAGGTTGCAGTAAGCCAAGATTGCACCACACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCTTCTCAAAAAAAACAAACAAGCAAACAAACAAACAAATAAATAAAATGAAGCATCACTTGGGCCTCACTCTGTGGTCTACATAGAATTATTTCTGGGGAATCCGTCATGGCTCCGTGGTTCCAAGGCAGCTCAGAAGCAAGGCTTTCTGGTGCTAAGTCCACTGCTTTTTTGCCCCTGCCCTGCGCTACTGGGGCACAGAAGTCACTAGGTTCTGCCATAGTAACTGACCCAATCTTTATATCGTCATTCATTCATGCATTCTTGCATTCACTGCTGCATTCACTCTGCAGGTGTTCACTGAATGCTTTGTGTCTAGTGTGTGTTCAGTGGAGGGAAGACAGAAAGTGCCATTAGTGATGATAGCAAGAGTGGCAGCCATGCATTGTGTGCCTGCTGGGCGGCAGGCTCAGCGGGAGGAAGGTGATGGAATGATTAAGGTGCAGGCCCTGGAACTGGGCCAAAGATTCATGTCCCATTTGCCATTAGTTGCATGACCCTCGGCAGGATACTTACCTTCTCTATGCCTGAGTTTCTCCACCCATAAAATGGGGCTAATGATGTATTTACCCAGAGGGTTGATGTGAGGATCAGGTGAGAAAGCTTTCAAGTGCTTGCACAGTGGCTGGCACGCGGTAAGTGTGCAGTGTGACTTCATCACGCATATTATAATCCTCACAATTTCTGCAAGGAGGTCATTGTATTCCCATTTTACAGAAGAGGCAACTGAGGCTCAGACATGTTAAGGAACTTATCTGAGGTCACACAGCTTTTAAGAGCAGAGACAGAGGCCGGGCACAGTGGCTTATGCCTGTAATCCTAGCACTTTGGGAAGCTGAGGTGGGTGAATTGCCTGAGCTTAGGAGTTTGAGGCCAGTCTGGGCAACATGGTGAAACCCCGTCTCTACTAAAAATAAAATAAATTAGCCGGGCGTGGTGGCAGGCACCTGTGGTCCCAGCTACACAGGAGGCAGAGGCATGAGAATCACTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCAAGATCGTGCCATGCACTCCATCCTGGGCAACAGAGTGACTGTCTCTGAAAAAAAAAAAAAAAAAAAAAAAAAGACAGGATCCAAACGTGGTATCTCTGTCCAAAGCTATGGAGATGCCCTCCATGCTGCCCCCATCCAACAGGGGAGCAAAAGAAGTGGGCATGAGCTACCAATATTTAGGCAGAAAGGACCCTGAGAGAGGGGCAGCCATGGCCCCGGGGACACTGAGGGGGTAAGGTCCCCCTCCTTCATGGAGGGGGTGACTGGAGATGGGCCGTTAGAGGTTAGGCAGGGTGTCTAGAGGTACACATAGGGAGAGAGGTGGTCCAGGGTGGGTTTGAACATGGGAAGGCCTGGGAGAGCTCTGGATTTGGGGTCTGGGATGCGGGCTGAGGGCAGAGTGCCTGGGCTTTGGCTGTTCTCTAGGGGGCTCAGCTTGCATCCCCCTCTCTGTGTGCTGGCTCTGGAAGAGGGGCCCTGCCAGCAGCCAACCCTGTCTGAGGCAGGTGGGGCTGGGCCCTGGGTGGGTCCTTGAGCCTGGAGGGGCCGCAGCCATCCTGAGCCACACCCTGCTGCCTGCAG
Seq C2 exon
GGAGACGTGGTGCGGCTGTTCCATGCGGAGCAGGAGAAGTTCCTGACGTGTGACGAGTACAAGGGCAAGCTGCAGGTGTTCCTGCGAACTACACTGCGCCAGTCTGCCACCTCGGCCACCAGCTCCAATGCTCTCTGGGAGGTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000096433-ITPR3:NM_002224:7
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=0.000
Domain overlap (PFAM):

C1:
PF087096=Ins145_P3_rec=PD(8.8=71.4),PF0281514=MIR=PU(2.0=14.3)
A:
NA
C2:
PF0281514=MIR=FE(24.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development