Special

HsaEX0027021 @ hg19

Exon Skipping

Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:23375]
Coordinates
chr9:128094789-128099870:+
Coord C1 exon
chr9:128094789-128094908
Coord A exon
chr9:128099297-128099374
Coord C2 exon
chr9:128099500-128099870
Length
78 bp
Sequences
Splice sites
3' ss Seq
CAGTTTCCCTCCTGTTTTAGGTG
3' ss Score
11.36
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
GCATAAGTGCAACCTCTGAGGATATTCCCAATAAGATTGAAGACCTGAGATCTGAGTGCAGCTCTGATTTTGGGGGTAAAGATTCTGTCACTAGTCCAGACATGGATGAAATAACTCACG
Seq A exon
GTGCCCACCAGCTGACCTCTCCTCCTTCTCAGTCAGAGTCTCTGCTGGCCATGTTTGATCCACTGTCTTCACATGAAG
Seq C2 exon
GGGCTTCTGCTGTGGTAAGGCCAAAGGTTCACTATGCTAGGCCATCGCATCCACCACCAGATCCCCCAATCCTGGAAGGAGCTGTGGGAGGAAATGAGGCCAGGTTGCCAAACTTTGGTTCCCATGTTTTAACTCCAGCTGAAATGGAGGCATTCAAGCAAAGGCATTCTTACCCTGAGAGACTAGTTCGAAGCAGGAGCTCTGATATAGTATCTTCTGTCCGGAGACCCATGAGTGACCCCAGCTGGAACCGGCGTCCAGGAAATGAAGAGCGAGAACTCCCTCCAGCTGCAGCCATTGGTGCTACTTCTTTGGTGGCTGCACCTCATTCATCATCTTCATCCCCGAGTAAGGACTCCTCAAGAGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219_MULTIEX3-2/2=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.967 A=0.985 C2=0.998
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)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTGCAGCTCTGATTTTGGGG
R:
CAACCTGGCCTCATTTCCTCC
Band lengths:
173-251
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development