Special

HsaINT0083218 @ hg19

Intron Retention

Gene
Description
inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]
Coordinates
chr3:4818948-4821329:+
Coord C1 exon
chr3:4818948-4819058
Coord A exon
chr3:4819059-4821233
Coord C2 exon
chr3:4821234-4821329
Length
2175 bp
Sequences
Splice sites
5' ss Seq
AAGGCAAGT
5' ss Score
3.24
3' ss Seq
CCCTTTGTTTCTCCAACTAGAAC
3' ss Score
10.09
Exon sequences
Seq C1 exon
AACTGCATAGCCACCCATGAATCCAATGGCATTGACATCATCACAGCCCTGATCCTCAATGATATCAATCCTTTGGGAAAGAAGAGGATGGACCTTGTGTTAGAACTGAAG
Seq A exon
GCAAGTAGGAATTAAAAGCAGAAGACAGTCATTTGGAAACAGTCACTTTTGTGTTTTGCCTTGGCACATGCACATGGGCAATTAGTCATGAGAGTAAATATTAAAGATAGTTCTTTAAATGAATGACCCAGGTTGCTAGTGCTGACTACGATGCAGAACTCCAACCTTTCTCTTCCACGTAAGGTATCTCATGAGGGGATAGGAGCTTCTGAACTGTTAGGTCACACAGAATGAAGATTCCTTGCTCCAAGCTAAGAAGTGAATCCCAACAGCATCGAGTACTAAATACCTTGGTTCTGAAAGTCACAAAGAGAGAAACAGTGGAAACGCCATTCCCTCTCTGGTTTCTGATTTTTCCCCATTTGAGGGAAAAGGGCCGGTTGAAGAATAGTACAACTAAGCCTATCTAGGACCAAAAAAAAAAAACCCAAAAAAACAAACATGTATTTTTACTTAATCAAGGAAATACCTTTTTCTCTTTTGTCACTGATTTAGCAGAAGGGTGGTTAATAATGTTGGTTTAAAATAAGGAAAATTACACAAACCAAAAATGTGCCTGCGGGCCTCTGCTGAGTTTCTCTGTATTGTGTACAAATGCGGGACTGCAGGTGACTGATGTGGAAGCCCCACTGACATTTGGACTCTCTATTACTCAAACAGCTTAACGGAATGAAAATCGTGACTTCTAGGTGCTAAACCTGCAGCATTTCCAAGCTGGCCTTTTTTGGATATTTGAGAAATTGATATACCATTCCTGATGTTGACTTCTAAAGTATACCCAGAAAACCCTCCCTTCTATGTAGGGGTTCCATAGGTTCTCTGAGAATCCCATGATTCAGTTTTAACAATTGAGCTTGCAGGCATCAGGTTTCTAAAGTATATTTCAAAACATGTTAGCCTTTCTGGACACATTTCCTTTTTAACTGTTCCCATGTCAGGGCATGTTGAGATTTGTCCTCTATCTGCCCATCCGCAGCAGCGAGCACTTCATCATTATCATGAAAGAGCCTAGAACTACAGGGTTTTGGCTGAAAGGTTGAGCTGTATTTATTGCATGAAGGATGTCATAGGAAAGGTCATTAGGAAAGATGGGAACACAGAAACCTGTGGGAATGGCAGTTATTTTTTCTTTACTATTTAGAACTGAGAGTCCACACTAACAGTCGATTTGGGTGTGTGGTTTAAATGGACTTTTTTTCTGCTATTTTTAATTCCTTTTGACAAATTGTGTTTTAGAGTGAATTTTAACAGATTCAACCTTGTGTACCTGGCCACCATTTATCAGAAAGTCCGAAATAAACAGAAGTTCATGTGCTCCTGGTCAGCATTTGAGTGACTTTTTCAACTAATCCAGTGATCTATGGATGATGATAGAAATTTGTGCCCTGCGATAGCATGATACCCTGACTCAACTGCTGTGACCTAAACTAGGGGAAGAAATAAGACCACTCTCACTGTCCAAAAAAAGAAAAAAAACCCAACAGCTTTCAAGTCCTGTACATAAAGAAGCATACAAAGTATCATAGACCCAGGGCCTAAAATGAAGTCAAGCCAGGAAGTACAGGATGTGGGGTGTGAACATGGGTGTTTTTAATGTAATGGGAAATTAGGGCTTGGCCTGCATACATTGTTCCTTTGGGTCACATTTGTTAACTAGTGTCAGATGTACTCATTATATTAGGGGTTATGAGAGCTAATAGAAATATTTTAAGACAGGGAAGAATTACCTTTATTACCTGTCTTCTCTGGCCTGCAAGGCCAAATAACAGTTTGTAACCACACCTGCCCGGAAGGCAGCACAGATCTGTGTAGTAGCAGCTTCTTCCCAACCACTGTCACCATGAGGGTGACAGTGTATCCGTAAGCACCCACGTGTAAATTCCCAATTTCTTCTAGGACTTGTACCAGCTAACATTAGGGCATAACACACATGCCCTGACAAATATGTGCCTCTTTGTCCGAAATCAGATTCTGCACACGTATCTGGGGTCTGAAGGGGGATGCTCTCTGCCTGGTGCAGATGGATTTTGATGTCCTTAACCCAGAGCTTCCTCATGGGGTGAAATGTTCGTCTGTTTAGCCGGGATGCCTCCCATGTGCCAGTTGGCACCTGCATTCAGGCCGGGCCCCCAAGCAGCCCCTCTACATTTCCTCTCCCTTTGTTTCTCCAACTAG
Seq C2 exon
AACAATGCCTCGAAGTTGCTCCTGGCCATCATGGAAAGCAGGCACGACAGTGAAAACGCAGAGAGGATACTTTATAACATGAGGCCCAAGGAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000150995-ITPR1:NM_002222:44
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=0.062
Domain overlap (PFAM):

C1:
PF084546=RIH_assoc=PD(18.3=59.5)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
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

  • Autistic and control brains
  • Pre-implantation embryo development