Special

HsaEX0051792 @ hg38

Exon Skipping

Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:122989297-122996151:+
Coord C1 exon
chr9:122989297-122989471
Coord A exon
chr9:122990056-122990213
Coord C2 exon
chr9:122996041-122996151
Length
158 bp
Sequences
Splice sites
3' ss Seq
CCTAACATGTCTGGTTGTAGGTA
3' ss Score
6.69
5' ss Seq
TAGGTAGGG
5' ss Score
6.53
Exon sequences
Seq C1 exon
ACTCTTAGATCCTCAGACAAACACTGAAATAGCAAACTACCCTATCTACAAAATCCTCTTCTGTGTCAGAGGGCATGATGGAACTCCTGAGAGTGACTGTTTTGCTTTCACTGAAAGTCATTACAATGCAGAGCTCTTCAGAATACACGTCTTCCGGTGTGAAATACAAGAAGCT
Seq A exon
GTAAGCCGGATACTTTACAGTTTTGCCACTGCCTTCCGCCGTTCTGCCAAGCAGACCCCACTTTCAGCCACTGCTGCACCCCAGACTCCTGACAGTGACATCTTTACCTTCTCTGTGTCTTTAGAAATAAAAGAAGATGATGGTAAAGGTTATTTTAG
Seq C2 exon
TGCAGTTCCCAAAGATAAGGACAGACAGTGCTTTAAACTACGCCAAGGAATTGATAAGAAGATTGTCATCTATGTGCAGCAAACAACTAATAAAGAACTTGCCATTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454_MULTIEX4-2/2=1-C2
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=0.090 C2=0.000
Domain overlap (PFAM):

C1:
PF0064018=PID=FE(46.4=100)
A:
PF0064018=PID=PD(13.6=32.1),PF124733=DUF3694=PU(1.5=3.8)
C2:
PF124733=DUF3694=FE(27.8=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:
TCCTCAGACAAACACTGAAATAGCA
R:
TGTTTGCTGCACATAGATGACA
Band lengths:
251-409
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development