Special

HsaEX0027016 @ hg19

Exon Skipping

Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:23375]
Coordinates
chr9:128024111-128061385:+
Coord C1 exon
chr9:128024111-128024238
Coord A exon
chr9:128025830-128025979
Coord C2 exon
chr9:128061169-128061385
Length
150 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTGGTTGTAAGTTT
3' ss Score
5.5
5' ss Seq
TAGGTATGT
5' ss Score
7.76
Exon sequences
Seq C1 exon
AAGCCAACAGGCGAGTGGCGAAGGTGGCGGCAGCGGCGGCGGGGGCAGTCACCGGCTAGGGCGACGGCTCCGAGGCCGAGTGGCGGTCCGACAGAGTCCTCCGTGTCCTCCCCCGCATGACCCCCTTG
Seq A exon
TTTATTCAATGCAAAAGAATCCTCTCCAATTTTACTGAGGTGGCTGACCACGTCCACGACCAAATCCGTCTCAACTGGAATTTGGCTGCTGACCCAGCCCCAGCCTCAGCTTTCTTGTCGGCACTAAGTGGCACAGCACTCCATCTGTAG
Seq C2 exon
TGATCAGCCTTTGAGCCTTTCCCACATTGAAGATGGTGAAACTAGATATTCATACTCTGGCTCATCACCTCAAGCAGGAACGCTTATATGTAAACTCTGAGAAACAGCTCATTCAGAGGCTCAATGCAGATGTACTTAAGACAGCTGAAAAGTTGTATCGTACAGCATGGATTGCGAAGCAACAGAGAATCAATTTGGATCGGCTTATCATAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219_MULTIEX2-1/4=C1-C2
Average complexity
ME(1-3[95=100])
Mappability confidence:
100%=100=100%
Protein Impact

5' UTR

Show structural model
Features
Disorder rate (Iupred):
  C1=NA A=NA C2=0.000
Domain overlap (PFAM):

C1:
NA
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACAGAGTCCTCCGTGTCCTC
R:
AGCCGATCCAAATTGATTCTCTGT
Band lengths:
244-394
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development