Special

HsaEX6062913 @ hg19

Exon Skipping

Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:17155]
Coordinates
chr9:125836564-125839041:+
Coord C1 exon
chr9:125836564-125836707
Coord A exon
chr9:125838524-125838565
Coord C2 exon
chr9:125838913-125839041
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-'46-45,'46-44,47-45=AN
Average complexity
A_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(11.7=100)
C2:
PF0056613=RabGAP-TBC=PD(2.9=14.0)


Main Inclusion Isoform:


Main Skipping Isoform:
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:
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