HsaEX0051771 @ hg38
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125203008-125207721:+
Coord C1 exon
chr9:125203008-125203070
Coord A exon
chr9:125206790-125207288
Coord C2 exon
chr9:125207564-125207721
Length
499 bp
Sequences
Splice sites
3' ss Seq
TTCACAATCATCTTTTGCAGTAA
3' ss Score
6.59
5' ss Seq
GAGGTCAGT
5' ss Score
7.7
Exon sequences
Seq C1 exon
GACACCATGAAGCAACTGCCAGTCTTGGAACCTGGAGACAAGCCCAGGAAAGCAACATGGTCT
Seq A exon
TAAGAACTGTTGCTGTCCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAAGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTAAAAATATAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAATCCCAGCTGCTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTTAAAAAAAAAAAAAAAAGAACCATTGCTGTCCTCATTTCACAAATGAGTAAACTAAAGTTCAGAAAGGTTAAGTGACTTCCAAAAGGTCACACATCTAGGAAGTACCTGAGCTCGAATTTGAACCAGATCTGTCTGAATTCATACACCATGCTCACAGCCACCATCCTGTGCCAAGACCCATCACTGAACATTTCTGGAG
Seq C2 exon
GTACACCTTGACTGTCCCTGGAGACAGCCCCTGTGCTCGAGTTGGCCACAGCTGTTCATATTTACCCCCAGTTGGTAATGCCAAGAGAGGGAAGGTCTTCATTGTTGGGGGAGCAAATCCAAACAGAAGCTTCTCAGACGTGCACACCATGGATCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933_MULTIEX1-4/10=3-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.564 A=0.000 C2=0.141
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0764610=Kelch_2=PU(78.8=75.9)
Main Inclusion Isoform:
ENST00000394125fB5694
Other Inclusion 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
(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:
GACACCATGAAGCAACTGCCA
R:
CATGGTGTGCACGTCTGAGAA
Band lengths:
214-713
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