HsaEX0027021 @ hg38
Exon Skipping
Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125332510-125337591:+
Coord C1 exon
chr9:125332510-125332629
Coord A exon
chr9:125337018-125337095
Coord C2 exon
chr9:125337221-125337591
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_MULTIEX3-8/8=6-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.963 A=0.979 C2=0.998
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
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