HsaEX6063026 @ hg38
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:HGNC:16896]
Coordinates
chr9:125220539-125232745:+
Coord C1 exon
chr9:125220539-125220602
Coord A exon
chr9:125227910-125228059
Coord C2 exon
chr9:125232596-125232745
Length
150 bp
Sequences
Splice sites
3' ss Seq
TATTGAATTTACTTTTCTAGACA
3' ss Score
7.2
5' ss Seq
TAAGTAAGC
5' ss Score
5.66
Exon sequences
Seq C1 exon
AAACCAGGACGTGGACCACGCCAGAAGTGACCAGCCCCCCACCATCCCCAAGAACATTCCACAC
Seq A exon
ACACTCTGACCTGGTCACAGCCAGAGACACTTGGAAATCCTCCATCTCCCCGGCATGGTCATGTGATGGTGGCAGCAGGGACAAAGCTCTTCATCCACGGAGGCTTGGCGGGGGACAGATTCTATGATGACCTCCACTGCATTGATATAA
Seq C2 exon
GTGACATGAAATGGCAGAAGCTAAATCCCACTGGGGCTGCTCCAGCAGGCTGTGCTGCCCACTCAGCTGTGGCCATGGGAAAACATGTGTACATCTTTGGTGGAATGACTCCTGCAGGAGCACTGGACACAATGTACCAGTATCACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933_MULTIEX1-9/10=8-10
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.507 A=0.294 C2=0.039
Domain overlap (PFAM):
C1:
PF0764610=Kelch_2=PD(19.2=18.2),PF134181=Kelch_4=PU(70.4=69.1)
A:
PF134181=Kelch_4=PD(27.8=29.4),PF134181=Kelch_4=PU(68.0=66.7)
C2:
PF134181=Kelch_4=PD(30.0=29.4),PF0134420=Kelch_1=PU(79.1=66.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGACCACGCCAGAAGTG
R:
GTGTGATACTGGTACATTGTGTCCA
Band lengths:
202-352
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains