Special

HsaEX0051857 @ hg19

Exon Skipping

Gene
ENSG00000161800 | RACGAP1
Description
Rac GTPase activating protein 1 [Source:HGNC Symbol;Acc:9804]
Coordinates
chr12:50396030-50410502:-
Coord C1 exon
chr12:50410414-50410502
Coord A exon
chr12:50398018-50398087
Coord C2 exon
chr12:50396030-50396083
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
AAAGATGGATACTATGATGCTGAATGTGCGGAATCTGTTTGAGCAGCTTGTGCGCCGGGTGGAGATTCTCAGTGAAGGAAATGAAGTCC
Seq A exon
ACTATCAACCATTGATGAATCTGGTTCCATTTTATCAGATATCAGCTTTGACAAGACTGATGAATCACTG
Seq C2 exon
GATTGGGACTCTTCTTTGGTGAAGACTTTCAAACTGAAGAAGAGAGAAAAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000161800_MULTIEX1-3/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.160 C2=0.139
Domain overlap (PFAM):

C1:
PF111803=DUF2968=PU(24.3=89.7),PF078886=CALCOCO1=PU(20.4=72.4),PF052956=Luciferase_N=PU(5.4=10.3),PF140731=Cep57_CLD=PU(20.2=72.4)
A:
PF078886=CALCOCO1=FE(13.5=100),PF140731=Cep57_CLD=PD(11.5=62.5)
C2:
PF078886=CALCOCO1=PD(8.8=83.3)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
AAAGATGGATACTATGATGCTGAATG
R:
CCTCTTTTCTCTCTTCTTCAGTTTGA
Band lengths:
143-213
Functional annotations
There are 2 annotated functions for this event
PMID: 19468300
This event
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
This event
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