HsaEX6062913 @ hg38
Exon Skipping
Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:123074285-123076762:+
Coord C1 exon
chr9:123074285-123074428
Coord A exon
chr9:123076245-123076286
Coord C2 exon
chr9:123076634-123076762
Length
42 bp
Sequences
Splice sites
3' ss Seq
TTTTGTCTGTTCTCTTTCAGGGA
3' ss Score
13.36
5' ss Seq
AAGGTACTC
5' ss Score
7.46
Exon sequences
Seq C1 exon
GAATACATTCCTGACCTGTACAACCACTTCCTGGATATAAGCCTTGAAGCACACATGTATGCCTCCCAGTGGTTTCTTACTCTTTTCACTGCAAAATTCCCTCTCTACATGGTCTTCCATATCATCGACCTGCTTTTATGTGAG
Seq A exon
GGAATAAGTGTTATTTTTAATGTCGCCCTTGGATTATTAAAG
Seq C2 exon
ACTTCGAAAGATGACCTGCTGTTGACAGACTTTGAAGGTGCCTTGAAGTTCTTTAGGGTTCAGCTTCCTAAGAGATACCGCTCAGAAGAAAATGCAAAAAAACTAATGGAATTAGCCTGCAACATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454-'70-72,'70-71,71-72
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0056613=RabGAP-TBC=FE(23.0=100)
A:
PF0056613=RabGAP-TBC=FE(6.4=100)
C2:
PF0056613=RabGAP-TBC=PD(2.9=14.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATGTATGCCTCCCAGTGGT
R:
AGGCACCTTCAAAGTCTGTCA
Band lengths:
135-177
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains