HsaEX0051774 @ hg38
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125207564-125228059:+
Coord C1 exon
chr9:125207564-125207721
Coord A exon
chr9:125213370-125213522
Coord C2 exon
chr9:125227910-125228059
Length
153 bp
Sequences
Splice sites
3' ss Seq
CTGGGTGAAATGTTTTCCAGGAA
3' ss Score
6.69
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GTACACCTTGACTGTCCCTGGAGACAGCCCCTGTGCTCGAGTTGGCCACAGCTGTTCATATTTACCCCCAGTTGGTAATGCCAAGAGAGGGAAGGTCTTCATTGTTGGGGGAGCAAATCCAAACAGAAGCTTCTCAGACGTGCACACCATGGATCTGG
Seq A exon
GAAAACACCAGTGGGACTTAGATACCTGCAAGGGCCTCTTGCCCCGGTATGAACATGCTAGCTTCATTCCCTCCTGCACACCTGACCGTATCTGGGTATTTGGAGGTGCCAACCAATCAGGAAATCGAAATTGTCTACAAGTCCTGAATCCTG
Seq C2 exon
ACACTCTGACCTGGTCACAGCCAGAGACACTTGGAAATCCTCCATCTCCCCGGCATGGTCATGTGATGGTGGCAGCAGGGACAAAGCTCTTCATCCACGGAGGCTTGGCGGGGGACAGATTCTATGATGACCTCCACTGCATTGATATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933_MULTIEX1-6/10=5-9
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.141 A=0.085 C2=0.294
Domain overlap (PFAM):
C1:
PF0764610=Kelch_2=PU(78.8=75.9)
A:
PF0764610=Kelch_2=PD(20.8=21.2),PF134151=Kelch_3=PU(46.9=44.2)
C2:
PF134181=Kelch_4=PD(27.8=29.4),PF134181=Kelch_4=PU(68.0=66.7)
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:
GAGTTGGCCACAGCTGTTCAT
R:
ATAGAATCTGTCCCCCGCCAA
Band lengths:
245-398
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