Special

HsaINT0072513 @ hg38

Intron Retention

Gene
Description
glutamate ionotropic receptor NMDA type subunit 1 [Source:HGNC Symbol;Acc:HGNC:4584]
Coordinates
chr9:137162706-137163003:+
Coord C1 exon
chr9:137162706-137162739
Coord A exon
chr9:137162740-137162845
Coord C2 exon
chr9:137162846-137163003
Length
106 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
3' ss Seq
CCTGCCCTCCGACCCTGCAGCTG
3' ss Score
9.59
Exon sequences
Seq C1 exon
GGAGGAGCGCATCACGGGCATCAACGACCCTCGG
Seq A exon
GTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAG
Seq C2 exon
CTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000176884:ENST00000460273:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.040 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0049715=SBP_bac_3=FE(14.3=100),PF0006021=Lig_chan=FE(18.4=100)
A:
NA
C2:
PF0049715=SBP_bac_3=FE(15.2=100),PF0006021=Lig_chan=FE(19.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGGAGCGCATCACGGG
R:
TTGTCTCTCACGGCCTGGAT
Band lengths:
192-298
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