HsaEX0051790 @ hg38
Exon Skipping
Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:123070350-123073677:+
Coord C1 exon
chr9:123070350-123070424
Coord A exon
chr9:123071412-123071501
Coord C2 exon
chr9:123073552-123073677
Length
90 bp
Sequences
Splice sites
3' ss Seq
CTCATTTTCTCATGATTCAGTTT
3' ss Score
6.21
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
Exon sequences
Seq C1 exon
GCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCAT
Seq A exon
TTTAAAATGCTTGGCAAGAATACCACACAGGTGATGTCAGCAAAGAGTTTTGAGTACCTGTTATGATCTGTACTGTGCTGAAGATCAGAG
Seq C2 exon
ATGCCTGAAGAACAGGCATTCAGTGTTCTGGTCAAGATCATGTTTGACTATGGGCTCAGGGAACTTTTCAAGCAAAACTTCGAAGATTTGCATTGCAAATTTTACCAGTTGGAGCGCCTCATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454_MULTIEX1-2/4=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0056613=RabGAP-TBC=FE(11.8=100)
A:
NA
C2:
PF0056613=RabGAP-TBC=FE(20.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTGGTTATTGCCAGGGCCAG
R:
GAGGCGCTCCAACTGGTAAAA
Band lengths:
171-261
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development