HsaEX6064220 @ hg38
Exon Skipping
Gene
ENSG00000176884 | GRIN1
Description
glutamate ionotropic receptor NMDA type subunit 1 [Source:HGNC Symbol;Acc:HGNC:4584]
Coordinates
chr9:137161056-137162088:+
Coord C1 exon
chr9:137161056-137161197
Coord A exon
chr9:137161289-137161416
Coord C2 exon
chr9:137161924-137162088
Length
128 bp
Sequences
Splice sites
3' ss Seq
TACCGCCCGCACCTACCCAGCCC
3' ss Score
2.49
5' ss Seq
CGGGTAGGC
5' ss Score
7.5
Exon sequences
Seq C1 exon
ATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCC
Seq A exon
CCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGG
Seq C2 exon
GTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000176884-'23-25,'23-23,27-25=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.250 A=0.023 C2=0.055
Domain overlap (PFAM):
C1:
NO
A:
PF0049715=SBP_bac_3=PU(10.5=83.7)
C2:
PF0049715=SBP_bac_3=FE(15.7=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGACATGCAAGGAGGAGTTC
R:
CCAGAATAGTCAGGCCCTGGT
Band lengths:
245-373
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains