HsaEX0051773 @ hg38
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125203008-125220700:+
Coord C1 exon
chr9:125203008-125203070
Coord A exon
chr9:125207564-125207721
Coord C2 exon
chr9:125220539-125220700
Length
158 bp
Sequences
Splice sites
3' ss Seq
ATACATCCTTCCTTTGGCAGGTA
3' ss Score
8.86
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
Exon sequences
Seq C1 exon
GACACCATGAAGCAACTGCCAGTCTTGGAACCTGGAGACAAGCCCAGGAAAGCAACATGGTCT
Seq A exon
GTACACCTTGACTGTCCCTGGAGACAGCCCCTGTGCTCGAGTTGGCCACAGCTGTTCATATTTACCCCCAGTTGGTAATGCCAAGAGAGGGAAGGTCTTCATTGTTGGGGGAGCAAATCCAAACAGAAGCTTCTCAGACGTGCACACCATGGATCTGG
Seq C2 exon
AAACCAGGACGTGGACCACGCCAGAAGTGACCAGCCCCCCACCATCCCCAAGAACATTCCACACATCATCGGCAGCCATTGGAAACCAGCTATATGTCTTTGGGGGCGGAGAGAGAGGTGCCCAGCCCGTGCAGGACACGAAGCTGCATGTGTTTGACGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933_MULTIEX1-5/10=3-8
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.564 A=0.141 C2=0.503
Domain overlap (PFAM):
C1:
NO
A:
PF0764610=Kelch_2=PU(78.8=75.9)
C2:
PF0764610=Kelch_2=PD(19.2=18.2),PF134181=Kelch_4=PU(70.4=69.1)
Main Skipping Isoform:
ENST00000394125fB5694
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:
CCATGAAGCAACTGCCAGTCT
R:
CGTCAAACACATGCAGCTTCG
Band lengths:
218-376
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development