HsaEX0027010 @ hg38
Exon Skipping
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125312452-125326589:+
Coord C1 exon
chr9:125312452-125312612
Coord A exon
chr9:125321433-125321562
Coord C2 exon
chr9:125326416-125326589
Length
130 bp
Sequences
Splice sites
3' ss Seq
ATTGACATTTTATTTTTTAGGTC
3' ss Score
10.64
5' ss Seq
AAGGTGAAG
5' ss Score
5.73
Exon sequences
Seq C1 exon
CAACTCGGAGCAGAAGCCGCACCAATATGCTAATGGACCTACATATGGACCATGAAGGATCATCTCAAGAAACCATTCAGGAGGTGCAACCAGAAGAGGTGTTGGTCATTTCCTTAGGTACAGGTCCCCAGCTTACTCCAGGGATGATGTCAGAAAATGAG
Seq A exon
GTCCTAAACATGCAGCTTTCGGATGGAGGACAAGGAGATGTCCCTGTTGATGAAAACAAACTCCATGGTAAACCTGATAAAACCTTGCGCTTTTCCCTCTGCAGTGATAATCTGGAAGGAATATCTGAAG
Seq C2 exon
CTACAACACAGGATAACCTTGATGATAAGCTAAGGAAGTTTGAAATTCGTGACATGATGGGATTAACAGATGATAGGGACATATCAGAAACAGTGAGTGAGACCTGGAGTACAGACGTCTTGGGAAGTGACTTTGACCCTAATATTGATGAAGATCGCTTGCAAGAAATTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219_MULTIEX3-1/8=C1-3
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.994 A=0.979 C2=0.873
Domain overlap (PFAM):
C1:
PF153241=TALPID3=FE(25.1=100)
A:
NO
C2:
PF153241=TALPID3=PD(3.3=11.9)
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:
GCCGCACCAATATGCTAATGG
R:
ACTCCAGGTCTCACTCACTGT
Band lengths:
256-386
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