Special

HsaEX0027044 @ hg19

Exon Skipping

Gene
ENSG00000136895 | GARNL3
Description
GTPase activating Rap/RanGAP domain-like 3 [Source:HGNC Symbol;Acc:25425]
Coordinates
chr9:130119498-130127645:+
Coord C1 exon
chr9:130119498-130119656
Coord A exon
chr9:130126868-130127055
Coord C2 exon
chr9:130127579-130127645
Length
188 bp
Sequences
Splice sites
3' ss Seq
TGCCCTCCTCTCAAATGCAGAAA
3' ss Score
9.3
5' ss Seq
GAGGTACGA
5' ss Score
8.65
Exon sequences
Seq C1 exon
GAGATCTGTCTGTCTGACTCTCCCATGGTGATGACCTTAGTGGATGGGCCAGCTGAAGAGAGTGACAATCTCATCTGTGTGGCTTATCGACACCAATTTGATGTGGTGAATGAGAGCACAGGAGAAGCCTTCAGGCTGCACCACGTGGAGGCCAACAGG
Seq A exon
AAACTGAGGCCCAGAGAGAGGAGTTTGCCCCAGACCACGGAACTAGGTGTTCTGACACCCTTTTCATTGCACCATGCTGCCTCTCTTGACATGAAGAACAGAGAAAGAATAAAGTGTGAAGACATGCCGTGGCGATTTTAAGGTGCACAGACTTTATCTGTTGGAGGCAGAAGGATGCCTCGCTGGAG
Seq C2 exon
GTTAATTTTGTTGCAGCTATTGATGTGTACGAAGATGGAGAAGCTGGTTTGCTGTTGTGTTACAACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136895_MULTIEX2-2/3=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.009 A=0.196 C2=0.011
Domain overlap (PFAM):

C1:
PF0078017=CNH=FE(17.0=100)
A:
PF0078017=CNH=PD(10.4=51.1)
C2:
PF0078017=CNH=FE(7.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGTCTGTCTGACTCTCCCA
R:
TGTAACACAACAGCAAACCAGC
Band lengths:
219-407
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development