HsaEX0051769 @ hg19
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:16896]
Coordinates
chr9:127982818-127990338:+
Coord C1 exon
chr9:127982818-127982979
Coord A exon
chr9:127988316-127988405
Coord C2 exon
chr9:127990189-127990338
Length
90 bp
Sequences
Splice sites
3' ss Seq
GTGCACACTTGTAATCCCAGCTA
3' ss Score
1.05
5' ss Seq
TGGGTAAGA
5' ss Score
8.91
Exon sequences
Seq C1 exon
AAACCAGGACGTGGACCACGCCAGAAGTGACCAGCCCCCCACCATCCCCAAGAACATTCCACACATCATCGGCAGCCATTGGAAACCAGCTATATGTCTTTGGGGGCGGAGAGAGAGGTGCCCAGCCCGTGCAGGACACGAAGCTGCATGTGTTTGACGCAA
Seq A exon
CTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGGCAGAGGTTGCAGCAAGCCAAGATCGCACCACTGCACTCCAGCCTGG
Seq C2 exon
ACACTCTGACCTGGTCACAGCCAGAGACACTTGGAAATCCTCCATCTCCCCGGCATGGTCATGTGATGGTGGCAGCAGGGACAAAGCTCTTCATCCACGGAGGCTTGGCGGGGGACAGATTCTATGATGACCTCCACTGCATTGATATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933-'12-15,'12-14,14-15
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.535 A=0.839 C2=0.304
Domain overlap (PFAM):
C1:
PF0764610=Kelch_2=PD(19.2=18.2),PF134181=Kelch_4=PU(70.4=69.1)
A:
NO
C2:
PF134181=Kelch_4=PD(27.8=29.4),PF134181=Kelch_4=PU(68.0=66.7)
Other Inclusion Isoforms:
NA
Associated events
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:
ATATGTCTTTGGGGGCGGAGA
R:
CAAGCCTCCGTGGATGAAGAG
Band lengths:
178-268
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)