Special

HsaEX6062914 @ hg38

Exon Skipping

Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:123070350-123076286:+
Coord C1 exon
chr9:123070350-123070424
Coord A exon
chr9:123073552-123073677
Coord C2 exon
chr9:123076245-123076286
Length
126 bp
Sequences
Splice sites
3' ss Seq
AACTTGCCTATCTGTTACAGATG
3' ss Score
7.9
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
GCTTATTCTGTGTATGATGAAGAGATTGGTTATTGCCAGGGCCAGTCATTTCTTGCTGCTGTGCTCCTTCTCCAT
Seq A exon
ATGCCTGAAGAACAGGCATTCAGTGTTCTGGTCAAGATCATGTTTGACTATGGGCTCAGGGAACTTTTCAAGCAAAACTTCGAAGATTTGCATTGCAAATTTTACCAGTTGGAGCGCCTCATGCAG
Seq C2 exon
GGAATAAGTGTTATTTTTAATGTCGCCCTTGGATTATTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454_MULTIEX1-3/4=1-C2
Average complexity
C3
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(11.8=100)
A:
PF0056613=RabGAP-TBC=FE(20.1=100)
C2:
PF0056613=RabGAP-TBC=FE(6.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTATTCTGTGTATGATGAAGAGAT
R:
CTTTAATAATCCAAGGGCGACATT
Band lengths:
117-243
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains