Special

HsaEX0042575 @ hg38

Exon Skipping

Gene
ENSG00000165802 | NSMF
Description
NMDA receptor synaptonuclear signaling and neuronal migration factor [Source:HGNC Symbol;Acc:HGNC:29843]
Coordinates
chr9:137452365-137452819:-
Coord C1 exon
chr9:137452736-137452819
Coord A exon
chr9:137452553-137452586
Coord C2 exon
chr9:137452365-137452435
Length
34 bp
Sequences
Splice sites
3' ss Seq
TGGCCTGTGTCTGTCCCCAGGAC
3' ss Score
12.09
5' ss Seq
TTGGTATGT
5' ss Score
7.12
Exon sequences
Seq C1 exon
CTCATTTCCTCCAAGGTGCCCAAGGCTGAGTACATCCCCACTATCATCCGCCGGGATGACCCCTCCATCATCCCCATCCTCTAC
Seq A exon
GACCATGAGCACGCAACCTTCGAGGACATCCTTG
Seq C2 exon
AGGAGATAGAGAGGAAGCTGAACGTCTACCACAAGGGAGCCAAGATCTGGAAAATGCTGATTTTCTGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165802_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
ORF disruption upon sequence exclusion





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
NO

							
A:
NO

							
C2:
NO

						

					

				








    
Main Inclusion Isoform:
ENSP00000360530





     
                   









    
Main Skipping Isoform:
NA





     
      









    
Other Inclusion Isoforms:
ENSP00000265663, ENSP00000342966, ENSP00000360527, ENSP00000360528, ENSP00000360529, ENSP00000412007, ENSP00000490131
          









    
Other Skipping Isoforms:
NA
  



Associated events






Other assemblies


hg19




Conservation


Mouse
(mm10)
chr2:25060692-25060725 
HIGH PSI
MmuEX1018820
(Nsmf)
Mouse
(mm9)
No conservation detected
Rat
(rn6)
chr3:2268505-2268538 
HIGH PSI
RnoEX6015782
(Nsmf)
Cow
(bosTau6)
chr11:105680482-105680515 
HIGH PSI
BtaEX6047493
(NSMF)
Chicken
(galGal4)
chr17:1750860-1750893 
HIGH PSI
GgaEX1040517
(NSMF)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
chr21:13372605-13372638 
ALTERNATIVE
DreEX0051764
(nsmfa)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
CTCATTTCCTCCAAGGTGCCC

				
R: 
CCCTTGTGGTAGACGTTCAGC

				
Band lengths: 
121-155

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 0 annotated functions for this event 


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






SPECIAL DATASETS
  • Autistic and control brains
  • Pre-implantation embryo development





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