HsaEX0051776 @ hg38
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125213370-125228059:+
Coord C1 exon
chr9:125213370-125213522
Coord A exon
chr9:125220539-125220602
Coord C2 exon
chr9:125227910-125228059
Length
64 bp
Sequences
Splice sites
3' ss Seq
CTGCATTCTCTCTGGCCCAGAAA
3' ss Score
5.97
5' ss Seq
CACATCATC
5' ss Score
-15.79
Exon sequences
Seq C1 exon
GAAAACACCAGTGGGACTTAGATACCTGCAAGGGCCTCTTGCCCCGGTATGAACATGCTAGCTTCATTCCCTCCTGCACACCTGACCGTATCTGGGTATTTGGAGGTGCCAACCAATCAGGAAATCGAAATTGTCTACAAGTCCTGAATCCTG
Seq A exon
AAACCAGGACGTGGACCACGCCAGAAGTGACCAGCCCCCCACCATCCCCAAGAACATTCCACAC
Seq C2 exon
ACACTCTGACCTGGTCACAGCCAGAGACACTTGGAAATCCTCCATCTCCCCGGCATGGTCATGTGATGGTGGCAGCAGGGACAAAGCTCTTCATCCACGGAGGCTTGGCGGGGGACAGATTCTATGATGACCTCCACTGCATTGATATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933_MULTIEX1-8/10=6-9
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.085 A=0.507 C2=0.294
Domain overlap (PFAM):
C1:
PF0764610=Kelch_2=PD(20.8=21.2),PF134151=Kelch_3=PU(46.9=44.2)
A:
PF0764610=Kelch_2=PD(19.2=18.2),PF134181=Kelch_4=PU(70.4=69.1)
C2:
PF134181=Kelch_4=PD(27.8=29.4),PF134181=Kelch_4=PU(68.0=66.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCGGTATGAACATGCTAGC
R:
TCCAAGTGTCTCTGGCTGTGA
Band lengths:
147-211
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