HsaEX1030440 @ hg38
Exon Skipping
Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:17155]
Coordinates
chr9:122996539-123010528:+
Coord C1 exon
chr9:122996539-122996605
Coord A exon
chr9:122997259-122997361
Coord C2 exon
chr9:123010354-123010528
Length
103 bp
Sequences
Splice sites
3' ss Seq
TTTTTACTCTTTTTTTCTAGGAA
3' ss Score
11.81
5' ss Seq
AAGGTGATA
5' ss Score
4.18
Exon sequences
Seq C1 exon
GTGTTTTGGTCTTCTCCTTAGTCCAGGAAAAGATGTACGAAATAGTGACATGCACTTATTAGATTTG
Seq A exon
GAATCTATGGGCAAAAGTTCAGATGGAAAGTCGTATGTTATTACGGGGAGCTGGAATCCAAAATCCCCACATTTTCAAGTTGTAAATGAAGAAACTCCTAAAG
Seq C2 exon
ATAAAGCAAAGGGAGAGAAAGAATAATACTGACACTTTATATGAAGTTGTATGCTTGGAAAGTGAATCAGAAAGAGAGAGGAGGAAAACTACAGCCAGTCCTTCAGTTCGCCTGCCACAGTCTGGATCGCAAAGTTCAGTGATACCTTCTCCTCCAGAAGATGATGAAGAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454_MULTIEX3-3/4=1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.114 C2=0.576
Domain overlap (PFAM):
C1:
PF124733=DUF3694=FE(16.5=100)
A:
PF124733=DUF3694=FE(25.6=100)
C2:
NO
Main Skipping Isoform:
ENST00000373647fB23984
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTTTTGGTCTTCTCCTTAGTCCA
R:
CTTCCTCTTCATCATCTTCTGGAGG
Band lengths:
242-345
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains