Special

HsaEX0051857 @ hg38

Exon Skipping

Gene
ENSG00000161800 | RACGAP1
Description
Rac GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:9804]
Coordinates
chr12:50002247-50005392:-
Coord C1 exon
chr12:50005256-50005392
Coord A exon
chr12:50004235-50004304
Coord C2 exon
chr12:50002247-50002300
Length
70 bp
Sequences
Splice sites
3' ss Seq
GTATTGTTTCACTGATCTAGACT
3' ss Score
6.53
5' ss Seq
CTGGTAATA
5' ss Score
4.88
Exon sequences
Seq C1 exon
GAACGACAGATTCAGCTGATTCGAGAGATGCTCATGTGTGACACATCTGGCAGCATTCAACTAAGCGAGGAGCAAAAATCAGCTCTGGCTTTTCTCAACAGAGGCCAACCATCCAGCAGCAATGCTGGGAACAAAAG
Seq A exon
ACTATCAACCATTGATGAATCTGGTTCCATTTTATCAGATATCAGCTTTGACAAGACTGATGAATCACTG
Seq C2 exon
GATTGGGACTCTTCTTTGGTGAAGACTTTCAAACTGAAGAAGAGAGAAAAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000161800-'22-41,'22-37,25-41
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact





	

	
ORF disruption upon sequence exclusion





No structure available

		

			
Features


			

				
Disorder rate (Iupred):
  C1=0.305 A=0.166 C2=0.102
 
                        

				
Domain overlap (PFAM):

					





						

							
C1:
PF111803=DUF2968=PD(14.4=34.8),PF078886=CALCOCO1=FE(32.1=100),PF140731=Cep57_CLD=FE(32.8=100)

							
A:
PF078886=CALCOCO1=FE(13.4=100),PF140731=Cep57_CLD=PD(10.6=62.5)

							
C2:
PF078886=CALCOCO1=PD(8.1=77.8)

						

					

				








    
Main Inclusion Isoform:
ENSP00000309871





     
                   









    
Main Skipping Isoform:
ENSP00000449574





     
      









    
Other Inclusion Isoforms:
ENSP00000404190, ENSP00000404808, ENSP00000446642, ENSP00000447393, ENSP00000447429, ENSP00000448697, ENSP00000449170, ENSP00000449370, ENSP00000449374, ENSP00000449620, ENSP00000449669, ENSP00000449963, ENSP00000450064
          









    
Other Skipping Isoforms:
NA
  



Associated events







Other assemblies


hg19




Conservation


Mouse
(mm10)
chr15:99636132-99636201 
HIGH PSI
MmuEX0038469
(Racgap1)
Mouse
(mm9)
chr15:99466563-99466632 
HIGH PSI
MmuEX0038469
(Racgap1)
Rat
(rn6)
chr7:141292830-141292899 
HIGH PSI
RnoEX0073487
(Racgap1)
Cow
(bosTau6)
chr5:30048673-30048742 
Chicken
(galGal4)
chrLGE22C19W28_E50C23:338049-338118 
HIGH PSI
GgaEX1047864
(RACGAP1)
Chicken
(galGal3)
chrE22C19W28_E50C23:318014-318083 
HIGH PSI
GgaEX6046990
(RACGAP1)
Zebrafish
(danRer10)
chr23:33845104-33845173 
HIGH PSI
DreEX0060454
(racgap1)
Fruitfly
(dm6)
No conservation detected




Primers PCR

	

		

			
Suggestions for RT-PCR validation

			

				
F: 
ACGACAGATTCAGCTGATTCGA

				
R: 
TCTTCAGTTTGAAAGTCTTCACCA

				
Band lengths: 
175-245

			

		

	





	
Functional annotations
(Submit an annotation)

	


There are 2 annotated functions for this event 


PMID: 19468300
HsaEX0051857
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, mutation analysis, protein kinase assay. ELM ID: ELMI003372; ELM sequence: SDISFDK; Overlap: FULL


PMID: 27453045
HsaEX0051857
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, coimmunoprecipitation, isothermal titration calorimetry. ELM ID: ELMI003173; ELM sequence: LSTIDE; Overlap: FULL


		










GENOMIC CONTEXT[edit]












INCLUSION PATTERN[edit]






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





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