HsaEX0051796 @ hg38
Exon Skipping
Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1 like [Source:HGNC Symbol;Acc:HGNC:24663]
Coordinates
chr1:174252480-174262132:+
Coord C1 exon
chr1:174252480-174252590
Coord A exon
chr1:174252740-174252773
Coord C2 exon
chr1:174262032-174262132
Length
34 bp
Sequences
Splice sites
3' ss Seq
CTTTCTCTACTTTAACTTAGATG
3' ss Score
6.79
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
CCCTGTGCCTAAGGATAGAGATAAATTTTATTTCAAATTAAAGCAAGGAATAGAGAAGAAGGTTGTGATTACAGTGCAGCAACTTTCTAACAAAGAATTAGCTATTGAAAG
Seq A exon
ATGTAACTGGTTTCATTGAAAATCAATTGCTGGG
Seq C2 exon
GCAGTAGAAGGATAACTCTCTTTTTCCATAGGAAAACAGGTATTACTTACTTATACAAAAGTACTTTCATTATTCTCTGTTAATGATTTCATGTGACAATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061-'38-30,'38-29,39-30
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF124733=DUF3694=FE(27.8=100)
A:
PF124733=DUF3694=PD(9.1=57.1)
C2:
PF124733=DUF3694=PD(2.4=33.3)
Main Inclusion Isoform:
ENST00000251507fB5700
Main Skipping Isoform:
ENST00000251507fB23987
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
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:
AGCAAGGAATAGAGAAGAAGGTTGT
R:
TTCCTATGGAAAAAGAGAGTTATCCT
Band lengths:
104-138
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