Special

HsaEX6062919 @ hg38

Exon Skipping

Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:122996041-122997361:+
Coord C1 exon
chr9:122996041-122996151
Coord A exon
chr9:122996539-122996605
Coord C2 exon
chr9:122997259-122997361
Length
67 bp
Sequences
Splice sites
3' ss Seq
TGTCAGTTCTTTTTTTGTAGGTG
3' ss Score
8.94
5' ss Seq
TTGGTAAGA
5' ss Score
8.85
Exon sequences
Seq C1 exon
TGCAGTTCCCAAAGATAAGGACAGACAGTGCTTTAAACTACGCCAAGGAATTGATAAGAAGATTGTCATCTATGTGCAGCAAACAACTAATAAAGAACTTGCCATTGAAAG
Seq A exon
GTGTTTTGGTCTTCTCCTTAGTCCAGGAAAAGATGTACGAAATAGTGACATGCACTTATTAGATTTG
Seq C2 exon
GAATCTATGGGCAAAAGTTCAGATGGAAAGTCGTATGTTATTACGGGGAGCTGGAATCCAAAATCCCCACATTTTCAAGTTGTAAATGAAGAAACTCCTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454_MULTIEX3-1/4=C1-3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.114
Domain overlap (PFAM):

C1:
PF124733=DUF3694=FE(27.8=100)
A:
PF124733=DUF3694=FE(16.5=100)
C2:
PF124733=DUF3694=FE(25.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
TGCAGTTCCCAAAGATAAGGACA
R:
TGGATTCCAGCTCCCCGTAAT
Band lengths:
171-238
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains