HsaEX6066461 @ hg38
Exon Skipping
Gene
ENSG00000161800 | RACGAP1
Description
Rac GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:9804]
Coordinates
chr12:50001172-50004304:-
Coord C1 exon
chr12:50004235-50004304
Coord A exon
chr12:50002247-50002300
Coord C2 exon
chr12:50001172-50001252
Length
54 bp
Sequences
Splice sites
3' ss Seq
TACAGTGTAATTGTCAACAGGAT
3' ss Score
5.92
5' ss Seq
AGGGTATGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
ACTATCAACCATTGATGAATCTGGTTCCATTTTATCAGATATCAGCTTTGACAAGACTGATGAATCACTG
Seq A exon
GATTGGGACTCTTCTTTGGTGAAGACTTTCAAACTGAAGAAGAGAGAAAAGAGG
Seq C2 exon
CGCTCTACTAGCCGACAGTTTGTTGATGGTCCCCCTGGACCTGTAAAGAAAACTCGTTCCATTGGCTCTGCAGTAGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000161800-'25-44,'25-41,30-44
Average complexity
S
Mappability confidence:
92%=83=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.166 A=0.102 C2=0.992
Domain overlap (PFAM):
C1:
PF078886=CALCOCO1=FE(13.4=100),PF140731=Cep57_CLD=PD(10.6=62.5)
A:
PF078886=CALCOCO1=PD(8.1=77.8)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAACCATTGATGAATCTGGTTCCA
R:
GCAGAGCCAATGGAACGAGTT
Band lengths:
137-191
Functional annotations
There are 2 annotated functions for this event
PMID: 19468300
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, mutation analysis, protein kinase assay. ELM ID: ELMI003371; ELM sequence: WDSSLVK; Overlap: FULL
PMID: 19468302
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: alanine scanning, fluorescence technology, mutation analysis, mutation disrupting interaction, protein kinase assay, western blot. ELM ID: ELMI003371; ELM sequence: WDSSLVK; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains