HsaEX0051768 @ hg38
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125200603-125203066:+
Coord C1 exon
chr9:125200603-125200906
Coord A exon
chr9:125201269-125201378
Coord C2 exon
chr9:125203008-125203066
Length
110 bp
Sequences
Splice sites
3' ss Seq
GGAGTTTGCAAATTTCCCAGAAG
3' ss Score
1.66
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
AGGGGCGAGGGTCCCCGGATACCGGGTCTATCACGGTCTCGGGCAGGGAGTCTGAATCTTTTAGGGGAGTGGGCCCAAGCCGGGTGCAAAGAACGGGGAAGGGCCTTCCCTGGCTCCGTCCCGGCCACTTTGACCGAATCAGCCTGTTCTTTCCCGACCCCGTCTCCTATCCCCTAGAACTGCCACGTGGGGATGAGATTTGCTGGGCTGGTAGCGGCGGCTGCTGCGGGAGGTCCCGCCCACGTGAAGCCAGCCTAACTGAGCTCTGGACTTTGGGGACAGCTGTCAGTGGCCTAGGCCGCAG
Seq A exon
AAGGGAAGCGACATTCCAAATAGGGGAAGCAGAACAGGCTGCAAAATTATGAAAAGGCCTGCCATATTACAAGAACAGCAAAAAAACCAATAATGCAAGAGATTGTGGAG
Seq C2 exon
GACACCATGAAGCAACTGCCAGTCTTGGAACCTGGAGACAAGCCCAGGAAAGCAACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933_MULTIEX1-2/10=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.317 A=0.059 C2=0.532
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Main Skipping Isoform:
ENST00000416065fB31572
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
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:
CGGCCACTTTGACCGAATCAG
R:
CATGTTGCTTTCCTGGGCTTG
Band lengths:
242-352
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