Special

HsaEX1016153 @ hg38

Exon Skipping

Gene
Description
glutamate ionotropic receptor NMDA type subunit 1 [Source:HGNC Symbol;Acc:HGNC:4584]
Coordinates
chr9:137163759-137168755:+
Coord C1 exon
chr9:137163759-137163904
Coord A exon
chr9:137164172-137164215
Coord C2 exon
chr9:137167774-137168755
Length
44 bp
Sequences
Splice sites
3' ss Seq
CCTGGCCCCTCTGTCTCCAGAGT
3' ss Score
10.21
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
GGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAG
Seq A exon
AGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGG
Seq C2 exon
CAGTACCATCCCACTGATATCACGGGCCCGCTCAACCTCTCAGATCCCTCGGTCAGCACCGTGGTGTGAGGCCCCCGGAGGCGCCCACCTGCCCAGTTAGCCCGGCCAAGGACACTGATGGGTCCTGCTGCTCGGGAAGGCCTGAGGGAAGCCCACCCGCCCCAGAGACTGCCCACCCTGGGCCTCCCGTCCGTCCGCCCGCCCACCCCGCTGCCTGGCGGGCAGCCCCTGCTGGACCAAGGTGCGGACCGGAGCGGCTGAGGACGGGGCAGAGCTGAGTCGGCTGGGCAGGGCCGCAGGGCGCTCCGGCAGAGGCAGGGCCCTGGGGTCTCTGAGCAGTGGGGAGCGGGGGCTAACTGGCCCCAGGCGGAGGGGCTTGGAGCAGAGACGGCAGCCCCATCCTTCCCGCAGCACCAGCCTGAGCCACAGTGGGGCCCATGGCCCCAGCTGGCTGGGTCGCCCCTCCTCGGGCGCCTGCGCTCCTCTGCAGCCTGAGCTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000176884_MULTIEX1-1/2=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.007 A=0.375 C2=0.320
Domain overlap (PFAM):

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


Main Inclusion Isoform:
ENST00000371560fB16694


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCGAGATTGCCTACAAGCGG
R:
ACCGAGGGATCTGAGAGGTTG
Band lengths:
146-190
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains