Special

HsaINT0072511 @ hg19

Intron Retention

Gene
Description
glutamate receptor, ionotropic, N-methyl D-aspartate 1 [Source:HGNC Symbol;Acc:4584]
Coordinates
chr9:140056624-140056968:+
Coord C1 exon
chr9:140056624-140056742
Coord A exon
chr9:140056743-140056855
Coord C2 exon
chr9:140056856-140056968
Length
113 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGC
5' ss Score
9.6
3' ss Seq
CCGCCCTCTGCGCCCCGCAGCCC
3' ss Score
7.92
Exon sequences
Seq C1 exon
GAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAG
Seq A exon
GTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAG
Seq C2 exon
CCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000176884-GRIN1:NM_007327:12
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:
PF0049715=SBP_bac_3=FE(11.4=100),PF0006021=Lig_chan=PU(9.4=62.5)
A:
NA
C2:
PF0049715=SBP_bac_3=FE(11.1=100),PF0006021=Lig_chan=FE(14.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGATTCCCCGGAGCACG
R:
CGATGCCGGAGTTGAGCAG
Band lengths:
226-339
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