HsaEX0051775 @ hg38
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125213370-125220700:+
Coord C1 exon
chr9:125213370-125213522
Coord A exon
chr9:125220327-125220397
Coord C2 exon
chr9:125220539-125220700
Length
71 bp
Sequences
Splice sites
3' ss Seq
CTCCATTCTTGTGCTTACAGCTT
3' ss Score
7.61
5' ss Seq
TTTGTGAGT
5' ss Score
5.91
Exon sequences
Seq C1 exon
GAAAACACCAGTGGGACTTAGATACCTGCAAGGGCCTCTTGCCCCGGTATGAACATGCTAGCTTCATTCCCTCCTGCACACCTGACCGTATCTGGGTATTTGGAGGTGCCAACCAATCAGGAAATCGAAATTGTCTACAAGTCCTGAATCCTG
Seq A exon
CTTTTAAATCTTGGGGATTTTGGACTGTCTTGGCAAATCCTAAGTATCATCTTCATTCTTCCTTGATGTTT
Seq C2 exon
AAACCAGGACGTGGACCACGCCAGAAGTGACCAGCCCCCCACCATCCCCAAGAACATTCCACACATCATCGGCAGCCATTGGAAACCAGCTATATGTCTTTGGGGGCGGAGAGAGAGGTGCCCAGCCCGTGCAGGACACGAAGCTGCATGTGTTTGACGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933_MULTIEX1-7/10=6-8
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.085 A=0.000 C2=0.503
Domain overlap (PFAM):
C1:
PF0764610=Kelch_2=PD(20.8=21.2),PF134151=Kelch_3=PU(46.9=44.2)
A:
NO
C2:
PF0764610=Kelch_2=PD(19.2=18.2),PF134181=Kelch_4=PU(70.4=69.1)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
CTTCATTCCCTCCTGCACACC
R:
TTTCCAATGGCTGCCGATGAT
Band lengths:
177-248
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