HsaEX0012834 @ hg38
Exon Skipping
Gene
ENSG00000183287 | CCBE1
Description
collagen and calcium binding EGF domains 1 [Source:HGNC Symbol;Acc:HGNC:29426]
Coordinates
chr18:59439543-59448103:-
Coord C1 exon
chr18:59447983-59448103
Coord A exon
chr18:59439677-59439816
Coord C2 exon
chr18:59439543-59439578
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_MULTIEX1-5/5=4-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.518 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PU(28.6=34.1)
A:
PF0139113=Collagen=PD(69.4=72.3),PF0139113=Collagen=PU(20.5=17.0)
C2:
PF0139113=Collagen=FE(28.2=100)
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:
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