Special

HsaEX0051781 @ hg38

Exon Skipping

Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:123065348-123073677:+
Coord C1 exon
chr9:123065348-123065461
Coord A exon
chr9:123070350-123070424
Coord C2 exon
chr9:123073552-123073677
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_MULTIEX1-1/4=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.050 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=FE(20.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
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