Special

HsaEX6064220 @ hg19

Exon Skipping

Gene
Description
glutamate receptor, ionotropic, N-methyl D-aspartate 1 [Source:HGNC Symbol;Acc:4584]
Coordinates
chr9:140055508-140056540:+
Coord C1 exon
chr9:140055508-140055649
Coord A exon
chr9:140055741-140055868
Coord C2 exon
chr9:140056376-140056540
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-'10-12,'10-11,11-12=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(10.2=81.4)
C2:
PF0049715=SBP_bac_3=FE(15.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
ALTERNATIVE
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