Special

HsaINT0083201 @ hg38

Intron Retention

Gene
Description
inositol 1,4,5-trisphosphate receptor type 1 [Source:HGNC Symbol;Acc:HGNC:6180]
Coordinates
chr3:4685069-4688620:+
Coord C1 exon
chr3:4685069-4685206
Coord A exon
chr3:4685207-4688494
Coord C2 exon
chr3:4688495-4688620
Length
3288 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
3' ss Seq
ATCTGTCTCCTCCCACACAGGCC
3' ss Score
9.58
Exon sequences
Seq C1 exon
ATTTTGATTCGGCTTAGCAAACTCTGTGTTCAAGAGAGTGCCTCAGTGAGAAAGAGCAGGAAGCAGCAACAGCGTCTGCTCCGGAACATGGGCGCGCACGCCGTGGTGCTGGAGCTGCTGCAGATTCCCTATGAGAAG
Seq A exon
GTGAGCGGTGCCTCATGCACAGCAGCTGCTCTCAGGATGGGGCGGATCCCTGGGTTTCCCCAAACTCTTCACATCTGGATATTGTTAGTGAAGAAATGCATCCAGTGTGACTATTGTGACTACAAAGCAATTTCAGGTATTGATATGAAACAGAGCATCTGAAAAATAAAGTAAAATCACCCGTGAATAATCCTCATCCCCAGTTTTAAGATTCTGTAAAGAAAGAGAGTCCATTTATTCTCCATACTCCCAAGACATATTGGATAGAGACAACTTGGTCTGTGTCAGAGCTTAGAGCTATATCTACCCATGAGTTGGTGTGTTTCAATTTCATTTGCAATGTGACTCAACCAATTTAAGTATCACCAGCTATTAAGTGCATGTAGGAACATGGGATGTGCCCACTTTTGAAGTCCTCAGTAAGACGCTGACATCTGCTTAAGTATTTGGATTTATCAGGTGATGCTTTGATCTAGGTCTTCTTTTCTGTTGCTGGAAGTTGTACTTTGCCTCTAATTTTTCACATTAGCGTTTGTCATTGATACGTATTTGATTTGGGGAGGCAGGAGCAGGCTGACAGTGCTTTGCATGCATGTAGGCTGACAAGACACTTATGAAATCATTCATTCAAGCCTACAAGACCCACTCGGGTATTTGTGTTGTGCCCACTTGACAGATGAGGAGACTGAGGCTTGGGGAGGTTTAGAGGTGAAAAGCTCAGACTCAGGTCTCTTGAGTTGACTATTAACTGCTAGAGAGACTGATTTGCTAGAGAAGACTCACCTGATGAAGGCTCATTTCTAGGTGCTTGCAGGGTGCCAGGCGCCATGCTGAGGCCTTTATACACATTATTAGCTCATGCCATCCTCAAGACACGTGGATGAGATGGGTGGTGCTATCTTTAGCCCCATTTTAGATGAGAGAGCTGCAGCGGGAGAGGTTCAGTAACTTGCGTGGATGGCACAGCTGTGTAGAGTGAAACTGGCTCCACTTCACTGTGGATCTGGGGCCTGCTGCCTTCCCTATGCCTGTCGCCTTCTACTCCAGGAAATTTCCTATGAAAGGATCCTCCTCCTCAGTCATGGGGACCATATGAATCGGGCAGGTCAGGCCTTTCGGTAGCTATAAATAAAGTCCAAGCTTAATCCCTGTCGTAGGTATAATACCTAGCTAACTTGTAGTTGATACAGGTGTGCATTATCATCCAAACTTTGCCTGTCATTTAGACTAGAACCAACAAGCTGATCTACTTCCTTGTGTGTAAGGAACGCGAGGGGGTCATTTGCTAACCATAGTGTTGTCTCATAATATCATCAGTTTCCCTAATGAGAGTTATGCCTTCATAGAGCAGGCTTAATCTACAGGTAACCAGATGTGGTTGGAATTGGTGACTCAAAGGAAGAATATCATGTGTGTGTATATCTGTGTGTGTACATGTGCACGCTTTTGTTTGCTTTTGGATGGGCACAGACTTCCAAAGAACGGTGGAGGAATCCCCCACAGGTAATCTCTTGTGACTTGATGTCTTTGGGGCTTGCTTTCCTTGGAAAAATCCGCTTCACACCACAAGGGTTCTTCACTTAGCTTGTGCACCAGCAGATTCCTTTTATACGGAAGGACTGGAGGTGTGTGGAACTGTTTAAGGTTACAGCTGTCAACCAGCAGTGGCTGTCTGTCCCAAGCCCTCTGATTTCTTAGAGCTAGAAGGTTCACCACCCCTCCTGTTAATAAGGGACAAATGTAATCCCCATTATGTTGTCCTGGGACTTGCTATTAATGTCCTTGTAAATTCTCCTCTGTTTTGGTTTGATTGTCAAAGCTGGGAGCTCACCTTCCTCCCACAACTCTGTTTTGTCACAGAGTTATTTTTCTAGACCAGGGGTTAGCAAACTACAGGCATGGGCCGAATCTAATCCACCACCTGTTTTGAACAGCATATCAGCTAGGAATGGTTATTACATTTTAAAATAGTCACATAAGTACCTACATAATGTCCTTGATACTCCCTCTCTACCCACAAAGCCCAAAGTATGTGCTGCCTTGCCCTTTAAGAAAAAGCTTGCTGACCTCAGTCTAGCCCGGAACCAAAAGCTAACATTTACAGAGTAATCACTGTCTAAGCACTTCATGTGACTTTTCTCACTTAATCTTCATAACAATCACATGAAGTGTGCACTTTTGTTATCTCCTTTTCACGGATGAGTAAACAGCGACACTGAGAGGCTAAGAAATGTGCTCCAGGTCACACAGCCAGGAAGTTGGAGATCTGGGATAAGAGTAGCGCAGTCAGGTTTGGTGACCTGCATTCCTACCTGCTATCCTCTCTTGCCTCTGAAATGAGGTGATGGCTGTGAAGACTTAGGAAGACTATTGTGGGCTGTAAGAATATGAAGGATGATTTCCAGTTTAGAAATTCTTGTTCTGTTTTTACTCTCTTAAATGTTTGCTTGTTTAGAATTGGACAAAATGGCCATGGGTTTTATAGAATTGGCTTATTACGGAATATTTAACTCTAAAATACTGAGTTTATGCTATTAATGTATGAATCACATAATCCAACCACGTGAAATGCCAGGGAGGGTATTATCCCCATTTTGCTGATGGGAAAACTAAGTCTGAGGTTAAAAATTGTACTTGGGATGATAGAGGAGTTACGGCAGGCACAGTTGCTCTAATGTGTGATCTCAGGAGATTTCCACTTTGCCATGGGAGCTGATGGCAAAAGTTAATGTCTAATAGGTCGGACAACTTAAAAAGGTGAACCCAAGAGGGAAAATGACTACTCAGCGTCAGTGAGGAAGTCAGCCCCAGTTCTGTTGTCAGTCCCTGTTTTTGTTTACTTTTAAAATTTTTATTATTTTTATCTTTTGTTAGAGATGGGTGTCTCACTATGTTGGCCAGGCTGTTCTCAAACTCCTGCCCTCAAGTGATCCACCCAAAGGGGTGGGATTACAGGTATGAGCCACTGTGCCCAGCCCGTCCCTGTCTTTAGAAGTAGGGGGTTCAGAAGTTTCAGTCCTTGCTGGATAATGGACTCATGGATGCCTTCTATTAGCCTTACTCTGCAGTGCTCCCTCCCACCCAAATAAGATCTTCACTTTCATCCAATGAGCATAGACAAGTTACTGGCTTCTTTTCAGCGTCAGCAGTGCAGCCCCTCAATATTTACCCACAACAGGTCCCCAGCAAACACCTTCTGACTCCCACGTTAGCAGGAGGTGTTGGGTATAGGAGAAGCTGGTCTCCTGGCCCAGCAATCAGTGCTTTCATCTGTCTCCTCCCACACAG
Seq C2 exon
GCCGAAGATACCAAGATGCAAGAGATAATGAGGTTGGCTCATGAATTTTTGCAGAATTTCTGCGCAGGCAACCAGCAGAATCAAGCTTTGCTACATAAACACATAAACCTGTTTCTCAACCCAGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995:ENST00000357086:30
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.065 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0136516=RYDR_ITPR=FE(25.0=100)
A:
NA
C2:
PF0136516=RYDR_ITPR=FE(22.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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

  • Autistic and control brains
  • Pre-implantation embryo development