Special

HsaEX0051771 @ hg19

Exon Skipping

Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:16896]
Coordinates
chr9:127967817-127970000:+
Coord C1 exon
chr9:127967817-127967931
Coord A exon
chr9:127969069-127969226
Coord C2 exon
chr9:127969843-127970000
Length
158 bp
Sequences
Splice sites
3' ss Seq
TTCACAATCATCTTTTGCAGTAA
3' ss Score
6.59
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
Exon sequences
Seq C1 exon
GTTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGCGATCCTGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGTGCATGCCACCACACCCAG
Seq A exon
TAAGAACTGTTGCTGTCCAGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAAGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAATCCCATCTCTACTAAAAATATAAAATTAGCCAG
Seq C2 exon
GTACACCTTGACTGTCCCTGGAGACAGCCCCTGTGCTCGAGTTGGCCACAGCTGTTCATATTTACCCCCAGTTGGTAATGCCAAGAGAGGGAAGGTCTTCATTGTTGGGGGAGCAAATCCAAACAGAAGCTTCTCAGACGTGCACACCATGGATCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933-'4-7,'4-6,5-7
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.129
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0764610=Kelch_2=PU(78.8=75.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping 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:
CAATCTCGGCTCACTGCAACT
R:
CATGGTGTGCACGTCTGAGAA
Band lengths:
249-407
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