HsaEX0051776 @ hg19
Exon Skipping
Gene
ENSG00000136933 | RABEPK
Description
Rab9 effector protein with kelch motifs [Source:HGNC Symbol;Acc:16896]
Coordinates
chr9:127975649-127990338:+
Coord C1 exon
chr9:127975649-127975801
Coord A exon
chr9:127982818-127982979
Coord C2 exon
chr9:127990189-127990338
Length
162 bp
Sequences
Splice sites
3' ss Seq
CTGCATTCTCTCTGGCCCAGAAA
3' ss Score
5.97
5' ss Seq
CAAGTATGG
5' ss Score
4.99
Exon sequences
Seq C1 exon
GAAAACACCAGTGGGACTTAGATACCTGCAAGGGCCTCTTGCCCCGGTATGAACATGCTAGCTTCATTCCCTCCTGCACACCTGACCGTATCTGGGTATTTGGAGGTGCCAACCAATCAGGAAATCGAAATTGTCTACAAGTCCTGAATCCTG
Seq A exon
AAACCAGGACGTGGACCACGCCAGAAGTGACCAGCCCCCCACCATCCCCAAGAACATTCCACACATCATCGGCAGCCATTGGAAACCAGCTATATGTCTTTGGGGGCGGAGAGAGAGGTGCCCAGCCCGTGCAGGACACGAAGCTGCATGTGTTTGACGCAA
Seq C2 exon
ACACTCTGACCTGGTCACAGCCAGAGACACTTGGAAATCCTCCATCTCCCCGGCATGGTCATGTGATGGTGGCAGCAGGGACAAAGCTCTTCATCCACGGAGGCTTGGCGGGGGACAGATTCTATGATGACCTCCACTGCATTGATATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136933_MULTIEX1-5/7=3-6
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.099 A=0.535 C2=0.304
Domain overlap (PFAM):
C1:
PF0764610=Kelch_2=PD(20.8=21.2),PF134151=Kelch_3=PU(46.9=44.2)
A:
PF0764610=Kelch_2=PD(19.2=18.2),PF134181=Kelch_4=PU(70.4=69.1)
C2:
PF134181=Kelch_4=PD(27.8=29.4),PF134181=Kelch_4=PU(68.0=66.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTGCCCCGGTATGAACATG
R:
ATAGAATCTGTCCCCCGCCAA
Band lengths:
242-404
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)