Special

HsaEX6063026 @ hg19

Exon Skipping

Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:16896]
Coordinates
chr9:127982818-127995024:+
Coord C1 exon
chr9:127982818-127982979
Coord A exon
chr9:127990189-127990338
Coord C2 exon
chr9:127994875-127995024
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
AAACCAGGACGTGGACCACGCCAGAAGTGACCAGCCCCCCACCATCCCCAAGAACATTCCACACATCATCGGCAGCCATTGGAAACCAGCTATATGTCTTTGGGGGCGGAGAGAGAGGTGCCCAGCCCGTGCAGGACACGAAGCTGCATGTGTTTGACGCAA
Seq A exon
ACACTCTGACCTGGTCACAGCCAGAGACACTTGGAAATCCTCCATCTCCCCGGCATGGTCATGTGATGGTGGCAGCAGGGACAAAGCTCTTCATCCACGGAGGCTTGGCGGGGGACAGATTCTATGATGACCTCCACTGCATTGATATAA
Seq C2 exon
GTGACATGAAATGGCAGAAGCTAAATCCCACTGGGGCTGCTCCAGCAGGCTGTGCTGCCCACTCAGCTGTGGCCATGGGAAAACATGTGTACATCTTTGGTGGAATGACTCCTGCAGGAGCACTGGACACAATGTACCAGTATCACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933-'12-16,'12-15,15-16=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.535 A=0.304 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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTCCACACATCATCGGCAGC
R:
ACATTGTGTCCAGTGCTCCTG
Band lengths:
242-392
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains