HsaEX6063027 @ hg38
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125200603-125207721:+
Coord C1 exon
chr9:125200603-125200906
Coord A exon
chr9:125203008-125203070
Coord C2 exon
chr9:125207564-125207721
Length
63 bp
Sequences
Splice sites
3' ss Seq
CCTTTCTTTCTTATGCATAGGAC
3' ss Score
8.9
5' ss Seq
TCTGTAAGG
5' ss Score
4.7
Exon sequences
Seq C1 exon
AGGGGCGAGGGTCCCCGGATACCGGGTCTATCACGGTCTCGGGCAGGGAGTCTGAATCTTTTAGGGGAGTGGGCCCAAGCCGGGTGCAAAGAACGGGGAAGGGCCTTCCCTGGCTCCGTCCCGGCCACTTTGACCGAATCAGCCTGTTCTTTCCCGACCCCGTCTCCTATCCCCTAGAACTGCCACGTGGGGATGAGATTTGCTGGGCTGGTAGCGGCGGCTGCTGCGGGAGGTCCCGCCCACGTGAAGCCAGCCTAACTGAGCTCTGGACTTTGGGGACAGCTGTCAGTGGCCTAGGCCGCAG
Seq A exon
GACACCATGAAGCAACTGCCAGTCTTGGAACCTGGAGACAAGCCCAGGAAAGCAACATGGTCT
Seq C2 exon
GTACACCTTGACTGTCCCTGGAGACAGCCCCTGTGCTCGAGTTGGCCACAGCTGTTCATATTTACCCCCAGTTGGTAATGCCAAGAGAGGGAAGGTCTTCATTGTTGGGGGAGCAAATCCAAACAGAAGCTTCTCAGACGTGCACACCATGGATCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933_MULTIEX1-3/10=1-5
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=0.317 A=0.564 C2=0.141
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0764610=Kelch_2=PU(78.8=75.9)
Main Inclusion Isoform:
ENST00000416065fB31572
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:
GTGGGGATGAGATTTGCTGGG
R:
TCTCCAGGGACAGTCAAGGTG
Band lengths:
142-205
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains