Special

HsaEX0027020 @ hg19

Exon Skipping

Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:23375]
Coordinates
chr9:128094789-128099374:+
Coord C1 exon
chr9:128094789-128094908
Coord A exon
chr9:128097451-128097531
Coord C2 exon
chr9:128099297-128099374
Length
81 bp
Sequences
Splice sites
3' ss Seq
ACATGTCCGTGTGAGGCCAGATT
3' ss Score
-1.06
5' ss Seq
CTAGTAAGC
5' ss Score
5.2
Exon sequences
Seq C1 exon
GCATAAGTGCAACCTCTGAGGATATTCCCAATAAGATTGAAGACCTGAGATCTGAGTGCAGCTCTGATTTTGGGGGTAAAGATTCTGTCACTAGTCCAGACATGGATGAAATAACTCACG
Seq A exon
ATTTTCTTTATATACTTCAGCCAAAACAACATTTTCAACACATTGAAGCAGAAGCAGACATGAGAATCCAGCTGTCTTCTA
Seq C2 exon
GTGCCCACCAGCTGACCTCTCCTCCTTCTCAGTCAGAGTCTCTGCTGGCCATGTTTGATCCACTGTCTTCACATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219_MULTIEX3-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.967 A=0.464 C2=0.985
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCAACCTCTGAGGATATTCCCA
R:
GGATCAAACATGGCCAGCAGA
Band lengths:
174-255
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