Special

HsaEX6063027 @ hg19

Exon Skipping

Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:16896]
Coordinates
chr9:127963059-127970000:+
Coord C1 exon
chr9:127963059-127963185
Coord A exon
chr9:127965287-127965345
Coord C2 exon
chr9:127969843-127970000
Length
59 bp
Sequences
Splice sites
3' ss Seq
CCTTTCTTTCTTATGCATAGGAC
3' ss Score
8.9
5' ss Seq
ATGGTCTGT
5' ss Score
2.86
Exon sequences
Seq C1 exon
AACTGCCACGTGGGGATGAGATTTGCTGGGCTGGTAGCGGCGGCTGCTGCGGGAGGTCCCGCCCACGTGAAGCCAGCCTAACTGAGCTCTGGACTTTGGGGACAGCTGTCAGTGGCCTAGGCCGCAG
Seq A exon
GACACCATGAAGCAACTGCCAGTCTTGGAACCTGGAGACAAGCCCAGGAAAGCAACATG
Seq C2 exon
GTACACCTTGACTGTCCCTGGAGACAGCCCCTGTGCTCGAGTTGGCCACAGCTGTTCATATTTACCCCCAGTTGGTAATGCCAAGAGAGGGAAGGTCTTCATTGTTGGGGGAGCAAATCCAAACAGAAGCTTCTCAGACGTGCACACCATGGATCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933-'1-7,'1-4,3-7=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. ATG (>10 exons))

No structure available
Features
Disorder rate (Iupred):
  C1=0.312 A=0.539 C2=0.129
Domain overlap (PFAM):

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


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGGGATGAGATTTGCTGGG
R:
TCTCCAGGGACAGTCAAGGTG
Band lengths:
142-201
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains