Special

HsaINT0072512 @ hg19

Intron Retention

Gene
Description
glutamate receptor, ionotropic, N-methyl D-aspartate 1 [Source:HGNC Symbol;Acc:4584]
Coordinates
chr9:140056856-140057191:+
Coord C1 exon
chr9:140056856-140056968
Coord A exon
chr9:140056969-140057042
Coord C2 exon
chr9:140057043-140057191
Length
74 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
AGCCCCCCGCCCGCCCACAGGCG
3' ss Score
8.18
Exon sequences
Seq C1 exon
CCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAG
Seq A exon
GTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAG
Seq C2 exon
GCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000176884-GRIN1:NM_007327:13
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=0.040
Domain overlap (PFAM):

C1:
PF0049715=SBP_bac_3=FE(11.1=100),PF0006021=Lig_chan=FE(14.3=100)
A:
NA
C2:
PF0049715=SBP_bac_3=FE(14.3=100),PF0006021=Lig_chan=FE(18.4=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:
TTCAAGGTGAACAGCGAGGAG
R:
TGTAGGAGGCCACGATGATCA
Band lengths:
178-252
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