Special

HsaEX6063043 @ hg19

Exon Skipping

Gene
ENSG00000165219 | GAPVD1
Description
GTPase activating protein and VPS9 domains 1 [Source:HGNC Symbol;Acc:23375]
Coordinates
chr9:128069970-128074891:+
Coord C1 exon
chr9:128069970-128070159
Coord A exon
chr9:128072208-128072288
Coord C2 exon
chr9:128074731-128074891
Length
81 bp
Sequences
Splice sites
3' ss Seq
TTAATGCTTTTGCAACCCAGGAC
3' ss Score
4.92
5' ss Seq
TTGGTGGGT
5' ss Score
4.3
Exon sequences
Seq C1 exon
GTGAATTTTATGAAGAGTGTGATGTCTGGAGATCAACTGAGAGAAGATAGAATGGCTCTTGACAATTTATTGGCAAACCTACCCCCGGCCAAGCCAGGAAAAAGTAGCAGTTTAGAAATGACTCCCTACAATACACCTCAGCTATCTCCAGCAACCACTCCAGCAAATAAAAAGAATCGATTACCTATAG
Seq A exon
GACAACAGTTAGCAGCCATCACTGCCTGGGATTCCTCAGCTACCAATATTACCTCTCATATTACAGTAGTAACCCCGTTTG
Seq C2 exon
CAACTCGGAGCAGAAGCCGCACCAATATGCTAATGGACCTACATATGGACCATGAAGGATCATCTCAAGAAACCATTCAGGAGGTGCAACCAGAAGAGGTGTTGGTCATTTCCTTAGGTACAGGTCCCCAGCTTACTCCAGGGATGATGTCAGAAAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165219-'18-21,'18-20,20-21=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.679 A=0.089 C2=0.992
Domain overlap (PFAM):

C1:
PF153241=TALPID3=FE(29.9=100)
A:
NO
C2:
PF153241=TALPID3=FE(25.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACCTCAGCTATCTCCAGCA
R:
ATGACCAACACCTCTTCTGGT
Band lengths:
167-248
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains