HsaEX0027025 @ hg38
Exon Skipping
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125359420-125367207:+
Coord C1 exon
chr9:125359420-125359492
Coord A exon
chr9:125360528-125360725
Coord C2 exon
chr9:125362606-125367207
Length
198 bp
Sequences
Splice sites
3' ss Seq
TTGTCTATGGTCTCACTTAGGTT
3' ss Score
7.64
5' ss Seq
AAGGTGGGC
5' ss Score
7.93
Exon sequences
Seq C1 exon
GGTTCTTCATGAACATATCCAGAGATTGTCTAAAGTAGTGACTGCAAATCACAGAGCTCTTCAGATACCAGAG
Seq A exon
GTTTATCTTCGAGAAGCACCATGGCCATCTGCACAATCAGAAATCAGGACAATAAGTGCTTATAAAACCCCCCGGGACAAAGTGCAGTGCATCCTGAGAATGTGCTCTACGATTATGAACCTCCTGAGCCTGGCCAATGAGGACTCTGTCCCTGGAGCGGATGACTTTGTTCCTGTGTTGGTGTTTGTGTTGATAAAG
Seq C2 exon
GCAAATCCACCCTGTTTGCTGTCTACTGTGCAGTATATCAGTAGCTTTTATGCTAGCTGTCTGTCTGGAGAGGAGTCCTATTGGTGGATGCAGTTCACAGCAGCAGTAGAATTCATTAAAACCATCGATGACCGAAAGTGACCAAGACCAAGGCCCACCAAGGCAGCAGACTGTTAATCAGACAAACAGATCTCTGAGAAGGTGCATCAGCTGCTTTGAAGGCTGAAGATTGTTTTGTATGATACTGCACAGCATCAGGCATTTTAAAGCAGATCTTTACTAAACAGGTTAATGAGCTAACAAGCAGGTTCTCTCGTCTTTGGGCTCTTTCCTTTCTGAGTTGCATATTCTATTTTCTTGTCCCCAAGTAGAGACTAGTACTACAAAAAGGGACCACATTTTTCAAGTATTTCTAAGTATAAAAAACAAAACAAAAATCTCTTAGGAAATGTCTAGACCTCCATTCTTGGATTCCCTTTCTTTCCTTTTATTTTAAAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219_MULTIEX5-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0220413=VPS9=PU(56.3=87.9)
C2:
PF0220413=VPS9=PD(41.7=91.5)
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:
TGACTGCAAATCACAGAGCTCT
R:
CAGCTGATGCACCTTCTCAGA
Band lengths:
248-446
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development