HsaEX0012834 @ hg19
Exon Skipping
Gene
ENSG00000183287 | CCBE1
Description
collagen and calcium binding EGF domains 1 [Source:HGNC Symbol;Acc:29426]
Coordinates
chr18:57106775-57115335:-
Coord C1 exon
chr18:57115215-57115335
Coord A exon
chr18:57106909-57107048
Coord C2 exon
chr18:57106775-57106810
Length
140 bp
Sequences
Splice sites
3' ss Seq
GAGGTGTTCTTTGATTACAGGCT
3' ss Score
5.39
5' ss Seq
GTGGTCAGT
5' ss Score
4.85
Exon sequences
Seq C1 exon
ATTGCTCTGCTCCCCAACAATGCAGCTGACCTGGGCAAGTATATCACTGGTGACAAGGTGCTGGCCTCAAACACCTACCTTCCAGGACCTCCTGGCCTGCCTGGGGGCCAGGGCCCTCCCG
Seq A exon
GCTCACCAGGACCAAAGGGAAGCCCAGGCTTCCCCGGTATGCCAGGCCCTCCTGGGCAGCCCGGCCCACGGGGCTCAATGGGACCCATGGGACCATCTCCTGATCTGTCCCACATTAAGCAAGGCCGGAGGGGCCCTGTG
Seq C2 exon
GGTCCACCAGGGGCACCAGGAAGAGATGGTTCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183287_MULTIEX1-3/3=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.526 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PU(18.4=20.6)
A:
PF0139113=Collagen=PD(69.4=72.3),PF0139113=Collagen=PU(20.5=17.0)
C2:
PF0139113=Collagen=FE(28.9=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTGCTCTGCTCCCCAACAAT
R:
AGAACCATCTCTTCCTGGTGC
Band lengths:
154-294
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)