HsaEX0027015 @ hg19
Exon Skipping
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:23375]
Coordinates
chr9:128103456-128109220:+
Coord C1 exon
chr9:128103456-128103543
Coord A exon
chr9:128104498-128104578
Coord C2 exon
chr9:128109098-128109220
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
ATGATCCCAGCCCTAGACTCAGTGCACAAGCTCAGGTGGCTGAGGATATTCTGGACAAATACAGGAATGCCATTAAACGGACCAGCCCCAGTGATGGAGCAATGGCAAACTATGAAAGTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219_MULTIEX1-2/2=1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.847 A=0.987 C2=0.972
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)