HsaEX6062922 @ hg38
Exon Skipping
Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:122984485-122989471:+
Coord C1 exon
chr9:122984485-122984719
Coord A exon
chr9:122986215-122986419
Coord C2 exon
chr9:122989297-122989471
Length
205 bp
Sequences
Splice sites
3' ss Seq
TTATTCATTGTTTCTTTCAGATT
3' ss Score
11.18
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
ATTGTAGGGAATGGAAGTGAACAGCAGCTGCAAAAAGAGCTAGCAGATGTACTGATGGATCCTCCAATGGACGACCAGCCAGGGGAAAAGGAGCTTGTGAAAAGGTCACAACTGGATGGTGAAGGAGATGGGCCTCTTTCTAATCAGCTCTCCGCTTCATCCACCATTAACCCTGTGCCATTAGTAGGGCTCCAAAAACCAGAGATGAGCCTACCAGTGAAACCTGGACAAGGAG
Seq A exon
ATTCTGAAGCTTCAAGTCCTTTCACACCAGTGGCCGATGAGGACAGCGTAGTTTTCAGTAAACTGACTTACTTAGGCTGTGCCTCGGTAAATGCTCCCAGGAGTGAAGTGGAAGCCTTAAGGATGATGTCCATCTTAAGAAGCCAGTGTCAGATTTCACTAGATGTTACCCTTTCAGTGCCGAATGTGTCTGAAGGAATTGTGAG
Seq C2 exon
ACTCTTAGATCCTCAGACAAACACTGAAATAGCAAACTACCCTATCTACAAAATCCTCTTCTGTGTCAGAGGGCATGATGGAACTCCTGAGAGTGACTGTTTTGCTTTCACTGAAAGTCATTACAATGCAGAGCTCTTCAGAATACACGTCTTCCGGTGTGAAATACAAGAAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454-'20-22,'20-21,24-22
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.946 A=0.157 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0064018=PID=PU(38.4=69.6)
C2:
PF0064018=PID=FE(46.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGCTGCAAAAAGAGCTAGC
R:
TCAGGAGTTCCATCATGCCCT
Band lengths:
302-507
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains