HsaEX6062916 @ hg38
Exon Skipping
Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:123010354-123020459:+
Coord C1 exon
chr9:123010354-123010528
Coord A exon
chr9:123015543-123015636
Coord C2 exon
chr9:123020309-123020459
Length
94 bp
Sequences
Splice sites
3' ss Seq
GTGTGTTTTGTTTATTATAGATA
3' ss Score
9.5
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
Exon sequences
Seq C1 exon
ATAAAGCAAAGGGAGAGAAAGAATAATACTGACACTTTATATGAAGTTGTATGCTTGGAAAGTGAATCAGAAAGAGAGAGGAGGAAAACTACAGCCAGTCCTTCAGTTCGCCTGCCACAGTCTGGATCGCAAAGTTCAGTGATACCTTCTCCTCCAGAAGATGATGAAGAGGAAG
Seq A exon
ATAATGATGAACCTCTCCTGAGTGGATCTGGTGATGTATCCAAAGAATGTGCAGAAAAAATTCTTGAAACATGGGGAGAACTGTTGTCAAAATG
Seq C2 exon
GCATCTCAACTTGAATGTGAGACCGAAGCAGTTGTCATCCTTAGTAAGAAACGGTGTCCCTGAAGCTCTTCGAGGAGAAGTCTGGCAGCTGCTAGCAGGCTGTCATAACAATGACCACCTGGTAGAGAAATACCGCATTCTTATCACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454-'46-51,'46-50,48-51
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.576 A=0.339 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0056613=RabGAP-TBC=PU(14.2=56.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACAGTCTGGATCGCAAAGT
R:
TATGACAGCCTGCTAGCAGCT
Band lengths:
168-262
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains