Special

HsaINT0072520 @ hg19

Intron Retention

Gene
Description
glutamate receptor, ionotropic, N-methyl D-aspartate 1 [Source:HGNC Symbol;Acc:4584]
Coordinates
chr9:140040178-140043561:+
Coord C1 exon
chr9:140040178-140040354
Coord A exon
chr9:140040355-140043460
Coord C2 exon
chr9:140043461-140043561
Length
3106 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
CACTCTTGCTCACACCGCAGGCA
3' ss Score
7.06
Exon sequences
Seq C1 exon
AGCATCCACCTGAGCTTCCTGCGCACCGTGCCGCCCTACTCCCACCAGTCCAGCGTGTGGTTTGAGATGATGCGTGTCTACAGCTGGAACCACATCATCCTGCTGGTCAGCGACGACCACGAGGGCCGGGCGGCTCAGAAACGCCTGGAGACGCTGCTGGAGGAGCGTGAGTCCAAG
Seq A exon
GTGAGGGTCGGCGCCGCGGGTGGGCGCCTGGCGGAGCCGAGGTGCAGGACGGGCCGCCTTGTGTCTGTGGCTCCGTGTGTGACACCCTCTTCTTTCCATCGTGCATGGTCAGCACCACCACGTCTGGCGAGCGCCCGCCCCAGCCTGTCCTCGGCTCATTTCACTCGCTTTTGCCATTAGTCGAAATCTCCTTCGTGTCAGTCCCTGCGGGGCGAGGGCCAGACCACCTGGAGCTCCGCAAACACCCCTGCCCCGCGCTGCCGAGCGCCCTCGTCCCCTCCTCCTGCCCATGCCCCTCGCTCCCTGGAGGCCCCAGCCGGGCTTGGGACTCGTCACCCTTCCCGCCCACCCTGTCCTGAGTCCCCAGCAGCCTCCCTCTGGGCAAGGTCTCCCCTGTACACGACCCCCACATACCGCCCCTGCAGGCCTGTCCCCTCCTGGCTGGGCCCATTCCCTGTCCTCCCCCGCGTGGCCTCCCCTGAAGCTCTGCACCTCATGGCTCAGCAAAGCCCTGTCCACAGACACCTGCCCCCCAGCCTGGACCGCCCCTGTGGGCTCCACTCCCCTCCTTGCCCCCACCACAGGGCTCCCTCTGCACTCCTCACCAAGACCCATTAGCCACCTGGTTCTAGGACACACTGACCCCCAACACAGCCAGGCGTCCACTCTGTGGGGCTGCAGAGAGATCAGAGCTGGGATTTGGGGGGGTCCGAGCGACCCCTTTCCCCTTCCTTACCACTCCCATTTGCAGTCTGGGGCAGAGCTGGTTCTCGGCTACAGACCCCCGGAGCCCTGGGTGCTCAGCACCTGGGCCAGCTCCTGATCAAGCAGTGGGAGGAGGCCCAGGCTGAGGAGGGCCAGACCTATGGGTGGCTGGGAGCATGTTTCGTGTCAGAGCTGGCTTCATCGGACTTAGGGCCAACCTAGCACCCCCCAAGGCACCCCAGGCCCCGGGAGGGACCAGAGGGCATGGGTCGGGGGTAAAGCCAGGGGCAGACCAGAGGGTCCTGGGAGTACTGTCGTGGGGGGTCTGCTGAGTCTTGGGGGGGAGGGGCATGGGCACCAAGGGCCCCACCCAAGACAGTGCCCCTCACCCCAGTGCCCGACAGGCCCCTCCCCCCAGCGCCCGACAGGCCCCTCCCCCCCAGCACCCGACAGGCCCCTCACCCCAGCGCTCGACAGGCCCCTCACCTTCTGGCATGTCCACCCACGGCCACGGACTCCCATCACACACTCACCCCTGCGCACCCAACTGCCTGCTTTCACTCACAGGTGCATGCACACATTCCCATCACACTCCACACCTCTGGCCACAGGCTCAGGCTTGCCTCCATGCAGCTCCAGCGCCACACACACACCTGGACACGTACTCAGGTGCGCTCCTCACACACACACCTGGACACGCACAGGTGCGCTCCTCACACACACACCTGGACACACGCTCAGGTGCGCTCCTCATGTGCATGCTCACCCTTACTTGCGCCAGCCAGCACAGACACACATGCACACACGCACACACGTGCACAGGCACACACATGCACACATGCACACGCACACACATGCACACACGCACACACAAGCACGCACACACGCACATGCACACATGCACACACACAAGCATGCTCAGACCATCTGGCCCTTCCCCAACCTTCACAGGCCTTTGTGGACTAACCCTCCCATGCTGACACCCACAGGCGCATGCCACCCCTGCAGGCGCACATAACGCACACACACCCTCTTGGGCGCATATGCGAGCCGAAGGGCGTGGGCACCCCAGTTAGTGAGGATACCTCGGTCTCTTGAGAGGCAGAGGGAGACCAAGGAGAGGGAGGGGGAGGGACATGGGGACAGGCCCCGGGGGGGCTGCTCACCTCCCACTCAGGACTGACACAGGTTGGAGTGGGCACTGCTGGGGCCACACAGCAGGTGCACGGCAGGGTGGGGGCGGCAGGTGGGGCTCCCTCCGAACGGTGGACGCGGACAGGGCCTCCTTTTCTCCCGAGAGCGACCGTTTCCAAGAGCACAGCTTCGTGGCAGGGAGCCTCCACGGCCCCGCCCCTACGACCCTCACCCCCAGCTCCACCCCGGCCCCCAGCCCCGCCCCGGGCCTCGGTGTTTGCGAGCTCCAGGTAGGAGCCCGTCTGCAGACGTGCCGAGGAGGTGGTGTGATTGCTTTAGCGCCGTCATTTTCAACCGTTTATAATCTTCTTCTGTGTCTGCATATTTTCTCTGTGCACATTATTCATCAGAGTAAAAAAAGGAACTATGAAAACCTCGACCAACTGTCCTATGACAACAAGCGCGGACCCAAGGTATATATGCATGGACGTGCACGCCACCCACGGCTAGGGAGCCCTGGCCTCGGCGCCTCGGCCACTAGGGCCACTGTCTGGCCCAGCCGCCGAGCCGCAGGCCCAAGCAATGAGGAGAGGCAGCCGGCAGCAGGCAGGAGAGGGCAGGCAGGAGAGGGCAGGCGTGGCGGCGTGGGTGCCTGAGGCCCACCCGCCGTGACCCTAGCCTGCACCCTCGAGGCAGGCGCGGCTGCAGGAGGAGCTGCTCTCCGGGAAGTGCATGCGAATCTCCGAGACCCCAAGGGTTTCCTCGTGGAACCCGGGAGGGAGCCCGCCCGCCTGGCCACCCACTCGCCGGGGCCGGGCTGCTCCTCAGGGGCCTGCGGAATCAAACCTCAGAGGACCTCCCATGGTTTTGGAAAAGTCAGCCCCATCTCTTTTCCTGGTTGCATTCCAAAACTCTTTTCTGTTTCCCGTCCGCTGCACGCCTCCTGAGTCTGGGTCCACTTCAGCTTGCATGCTCAGTGCAAAGATGAGGACAGGAGTGAGGTGGAGAGAGAGATCCAGAGAGAGCAGAGAGAGCACAGAACGAGCACAGGTGAGCGCGCAGGCTGAAGACAGGACAGGACCGGAGAGGCGAGGCCAGGCCAGGCAAGGACTGAGGAAGGCAGGCGGAGGCGCAGGTGGCAGGCGCAGACCATGGCAGCCCTAGCTAAGCTGCCTCGGGGTTCCCAGCGGCTCCGGCCCAACTCTCACCCCTGAGGCGCTATGTCCCCTGCCCCAGCCGCCTGCTAACACTCTTGCTCACACCGCAG
Seq C2 exon
GCAGAGAAGGTGCTGCAGTTTGACCCAGGGACCAAGAACGTGACGGCCCTGCTGATGGAGGCGAAAGAGCTGGAGGCCCGGGTCATCATCCTTTCTGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000176884-GRIN1:NM_007327:3
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.139 A=NA C2=0.085
Domain overlap (PFAM):

C1:
PF0109423=ANF_receptor=FE(18.1=100)
A:
NA
C2:
PF0109423=ANF_receptor=FE(10.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
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