HsaEX6063045 @ hg38
Exon Skipping
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125305063-125307880:+
Coord C1 exon
chr9:125305063-125305149
Coord A exon
chr9:125307413-125307547
Coord C2 exon
chr9:125307691-125307880
Length
135 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTCCTGTTTTAACAGAGC
3' ss Score
10.03
5' ss Seq
CTGGTAATG
5' ss Score
5.67
Exon sequences
Seq C1 exon
GTAGGCCGCCTTTTGCAGCAGTTAGCAATGACTGGCTCTGAAGAGGGAGATCCCCGAACAAAGAGCAGCCTTGGAAAGTTTGACAAA
Seq A exon
AGCTGTGTTGCCGCTTTCCTTGATGTTGTGATTGGGGGCCGTGCAGTGGAGACCCCTCCATTGTCTTCCGTCAATCTTCTGGAAGGATTGAGCAGAACTGTGGTTTATATAACCTACAGTCAGCTTATTACTCTG
Seq C2 exon
GTGAATTTTATGAAGAGTGTGATGTCTGGAGATCAACTGAGAGAAGATAGAATGGCTCTTGACAATTTATTGGCAAACCTACCCCCGGCCAAGCCAGGAAAAAGTAGCAGTTTAGAAATGACTCCCTACAATACACCTCAGCTATCTCCAGCAACCACTCCAGCAAATAAAAAGAATCGATTACCTATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219-'39-48,'39-47,41-48
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.147 A=0.000 C2=0.680
Domain overlap (PFAM):
C1:
PF0061614=RasGAP=PD(4.5=31.0)
A:
PF153241=TALPID3=PU(0.1=0.0)
C2:
PF153241=TALPID3=FE(29.9=100)
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:
CGCCTTTTGCAGCAGTTAGC
R:
ATTTGCTGGAGTGGTTGCTGG
Band lengths:
249-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains