Special

HsaEX0051781 @ hg19

Exon Skipping

Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:17155]
Coordinates
chr9:125827627-125835956:+
Coord C1 exon
chr9:125827627-125827740
Coord A exon
chr9:125832629-125832703
Coord C2 exon
chr9:125835831-125835956
Length
75 bp
Sequences
Splice sites
3' ss Seq
CTGTGTGTTTTATTTTCCAGGCT
3' ss Score
11.28
5' ss Seq
CATGTGAGT
5' ss Score
7.83
Exon sequences
Seq C1 exon
GAGTCTCCCCAGGACAGTGCTATCACCCGGGATATTAACCGAACATTCCCAGCCCATGACTACTTTAAGGACACAGGAGGAGATGGACAAGATTCCTTATATAAAATATGCAAG
Seq A exon
GCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCAT
Seq C2 exon
ATGCCTGAAGAACAGGCATTCAGTGTTCTGGTCAAGATCATGTTTGACTATGGGCTCAGGGAACTTTTCAAGCAAAACTTCGAAGATTTGCATTGCAAATTTTACCAGTTGGAGCGCCTCATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454-'38-41,'38-39,41-41
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.053 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0056613=RabGAP-TBC=PD(60.3=67.1)
A:
PF0056613=RabGAP-TBC=FE(11.8=100)
C2:
PF0056613=RabGAP-TBC=PU(36.9=97.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGACACAGGAGGAGATGGAC
R:
GAGGCGCTCCAACTGGTAAAA
Band lengths:
167-242
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development