Special

HsaEX1015234 @ hg38

Exon Skipping

Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:HGNC:23375]
Coordinates
chr9:125298890-125305149:+
Coord C1 exon
chr9:125298890-125299106
Coord A exon
chr9:125301983-125302826
Coord C2 exon
chr9:125305063-125305149
Length
844 bp
Sequences
Splice sites
3' ss Seq
CTTTTTTTTTTTTTTTTTAGTGC
3' ss Score
11.09
5' ss Seq
CAGGTATGC
5' ss Score
9.37
Exon sequences
Seq C1 exon
TGATCAGCCTTTGAGCCTTTCCCACATTGAAGATGGTGAAACTAGATATTCATACTCTGGCTCATCACCTCAAGCAGGAACGCTTATATGTAAACTCTGAGAAACAGCTCATTCAGAGGCTCAATGCAGATGTACTTAAGACAGCTGAAAAGTTGTATCGTACAGCATGGATTGCGAAGCAACAGAGAATCAATTTGGATCGGCTTATCATAACCAG
Seq A exon
TGCTGAAGCTTCCCCTGCTGAATGTTGCCAACATGCCAAAATTTTGGAAGATACACAATTTGTTGATGGGTATAAGCAATTGGGATTTCAGGAGACTGCTTATGGAGAATTCTTGAGTCGATTGAGGGAAAATCCTCGTCTTATTGCCTCCTCTTTGGTTGCTGGAGAGAAACTTAATCAGGAGAACACACAAAGTGTTATTTACACAGTTTTTACCTCCCTGTATGGCAATTGCATCATGCAAGAAGATGAAAGCTACCTCCTTCAGGTTTTGCGATACTTGATTGAATTTGAACTTAAAGAAAGTGACAACCCTAGGCGACTTTTGAGGAGAGGAACTTGTGCCTTCAGCATCTTATTTAAACTTTTTTCTGAAGGACTGTTTTCTGCCAAACTTTTCCTCACAGCCACTTTACATGAGCCAATTATGCAACTGCTTGTTGAAGATGAAGATCACCTGGAAACAGATCCAAACAAGCTAATTGAGAGGTTCTCTCCATCTCAGCAGGAAAAACTCTTTGGAGAGAAGGGCTCAGATAGATTCAGGCAAAAAGTTCAAGAAATGGTGGAGTCCAATGAAGCAAAGCTAGTGGCTTTGGTGAACAAATTTATTGGTTATCTCAAACAGAACACATATTGTTTTCCACATAGTTTAAGGTGGATCGTGTCTCAGATGTACAAAACCCTCTCCTGTGTAGATAGGCTGGAAGTTGGGGAGGTCAGGGCAATGTGTACTGATCTCCTGTTGGCCTGCTTCATTTGTCCTGCAGTTGTCAATCCAGAACAATATGGAATAATTTCCGATGCTCCTATTAATGAAGTAGCACGATTTAATCTGATGCAG
Seq C2 exon
GTAGGCCGCCTTTTGCAGCAGTTAGCAATGACTGGCTCTGAAGAGGGAGATCCCCGAACAAAGAGCAGCCTTGGAAAGTTTGACAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219-'31-43,'31-36,37-43
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.147
Domain overlap (PFAM):

C1:
NO
A:
PF0061614=RasGAP=PU(94.6=67.7)
C2:
PF0061614=RasGAP=PD(4.5=31.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATCAGCCTTTGAGCCTTTCC
R:
TGTCAAACTTTCCAAGGCTGCT
Band lengths:
302-1146
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains