Special

HsaEX0027015 @ hg38

Exon Skipping

Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125341177-125346995:+
Coord C1 exon
chr9:125341177-125341264
Coord A exon
chr9:125342219-125342299
Coord C2 exon
chr9:125346819-125346995
Length
81 bp
Sequences
Splice sites
3' ss Seq
TGACTTTATTTAATTTCCAGCTC
3' ss Score
8.17
5' ss Seq
CAGGTTTGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
ACTGAAGAACGCAAAGATAGCGATGATGAGAAATCAGACAGGAACAGACCTTGGTGGAGAAAACGTTTTGTTTCAGCCATGCCTAAAG
Seq A exon
CTCCTATACCATTTAGAAAGAAAGAAAAACAAGAAAAAGACAAAGATGATCTGGGGCCTGACAGATTCTCAACACTCACAG
Seq C2 exon
ATGATCCCAGCCCTAGACTCAGTGCACAAGCTCAGGTGGCTGAGGATATTCTGGACAAATACAGGAATGCCATTAAACGGACCAGCCCCAGTGATGGAGCAATGGCAAACTATGAAAGTACAGGTGATAATCATGACAGAGATTTGAGTAGTAAACTTTTATATCATAGTGATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219_MULTIEX1-2/4=1-3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.856 A=0.993 C2=0.989
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGAAGAACGCAAAGATAGCGA
R:
CTGGGGCTGGTCCGTTTAATG
Band lengths:
179-260
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