HsaEX0027024 @ hg38
Exon Skipping
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125355644-125360725:+
Coord C1 exon
chr9:125355644-125355857
Coord A exon
chr9:125359420-125359492
Coord C2 exon
chr9:125360528-125360725
Length
73 bp
Sequences
Splice sites
3' ss Seq
GTATTTTGGGGGGTTTTCAGGGT
3' ss Score
5.81
5' ss Seq
GAGGTAATA
5' ss Score
7.96
Exon sequences
Seq C1 exon
ACTTTCAGAAACTCACCGCAGCTGACGATAAAACTGCTCAGGTAGAAGATTTTCTGCAGTTTCTTTATGGTGCAATGGCCCAGGATGTCATATGGCAAAACGCGAGTGAAGAACAGCTTCAAGATGCACAGCTGGCCATTGAGCGAAGCGTGATGAACCGGATTTTCAAGCTCGCCTTCTACCCTAATCAAGATGGGGACATACTTCGCGACCA
Seq A exon
GGTTCTTCATGAACATATCCAGAGATTGTCTAAAGTAGTGACTGCAAATCACAGAGCTCTTCAGATACCAGAG
Seq C2 exon
GTTTATCTTCGAGAAGCACCATGGCCATCTGCACAATCAGAAATCAGGACAATAAGTGCTTATAAAACCCCCCGGGACAAAGTGCAGTGCATCCTGAGAATGTGCTCTACGATTATGAACCTCCTGAGCCTGGCCAATGAGGACTCTGTCCCTGGAGCGGATGACTTTGTTCCTGTGTTGGTGTTTGTGTTGATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219_MULTIEX5-1/2=C1-2
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=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0220413=VPS9=PU(56.3=87.9)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTATGGTGCAATGGCCCAGG
R:
GCCATGGTGCTTCTCGAAGAT
Band lengths:
176-249
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