Special

HsaINT0072517 @ hg19

Intron Retention

Gene
Description
glutamate receptor, ionotropic, N-methyl D-aspartate 1 [Source:HGNC Symbol;Acc:4584]
Coordinates
chr9:140058211-140059748:+
Coord C1 exon
chr9:140058211-140058356
Coord A exon
chr9:140058357-140059637
Coord C2 exon
chr9:140059638-140059748
Length
1281 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
3' ss Seq
CTTATACATATTCATTTTAGGAT
3' ss Score
8.75
Exon sequences
Seq C1 exon
GGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAG
Seq A exon
GTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCCTCTGTCACTCCAATTCCACCTCGACACCTGCCTCCAGCCCTCGGCCCCTTCCTGAATCTTGGTGTGTGCCCCTTGGGGGTCAGTGGCCTCCACGCAGACAGCTGGTGTGGCCTGAGGGGCAACTCCTCCAGTCCTCAGAGGACTCCTCCTCCTCGGGACGCCTGTAAGCCAGGGCCACCCAGGAGCCAGGGAGCCAGGCGGACCTCCCAGGAAGAGCCAGCCGAGAGCCCCCAAGCCCAGCCCCAGCACGAGCAAGGTCAGGCCCGAGACCCCGGGCAGGAGAAGAGGCCACCCTCGAACGTCCGCTGTCGGCCCGTCTGTCCAGCACAGGGAGGCAGGCAGGAGCGAGGGCCCAAGTGGCCGGCCAGGCTGGGCAGCGGCCCATGCAGGAGCAGGCGAGGGCAGGTGTGGCCACCACCCTAGCCATCTAATCACTTATACATATTCATTTTAG
Seq C2 exon
GATAGAAAGAGTGGTAGAGCAGAGCCTGACCCTAAAAAGAAAGCCACATTTAGGGCTATCACCTCCACCCTGGCTTCCAGCTTCAAGAGGCGTAGGTCCTCCAAAGACACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000176884-GRIN1:NM_007327:18
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.017 A=NA C2=0.635
Domain overlap (PFAM):

C1:
PF0006021=Lig_chan=PD(3.4=18.4),PF105624=CaM_bdg_C0=WD(100=59.2)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCTTCATGCTGGTAGCTGGG
R:
GTGTCTTTGGAGGACCTACGC
Band lengths:
254-1535
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