HsaEX0012832 @ hg38
Exon Skipping
Gene
ENSG00000183287 | CCBE1
Description
collagen and calcium binding EGF domains 1 [Source:HGNC Symbol;Acc:HGNC:29426]
Coordinates
chr18:59439677-59466891:-
Coord C1 exon
chr18:59466739-59466891
Coord A exon
chr18:59454851-59454951
Coord C2 exon
chr18:59439677-59439816
Length
101 bp
Sequences
Splice sites
3' ss Seq
GAGCCTATCTCCTTTCTCAGGCC
3' ss Score
7.33
5' ss Seq
AAGGTACGT
5' ss Score
10.75
Exon sequences
Seq C1 exon
ATATTGATGAGTGTGCCAGCAGCAATGGGACGCTGTGTGCCCACATCTGCATCAATACCTTGGGCAGCTACCGCTGCGAGTGCCGGGAAGGCTACATCCGGGAAGATGATGGGAAGACATGTACCAGGGGAGACAAATATCCCAATGACACTG
Seq A exon
GCCATGAGAAGTCTGAGAACATGGTGAAAGCCGGAACTTGCTGTGCCACATGCAAGGAGTTCTACCAGATGAAGCAGACCGTGCTGCAGCTGAAGCAAAAG
Seq C2 exon
GCTCACCAGGACCAAAGGGAAGCCCAGGCTTCCCCGGTATGCCAGGCCCTCCTGGGCAGCCCGGCCCACGGGGCTCAATGGGACCCATGGGACCATCTCCTGATCTGTCCCACATTAAGCAAGGCCGGAGGGGCCCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183287_MULTIEX1-3/5=1-5
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.103 A=0.116 C2=1.000
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=78.8)
A:
NO
C2:
PF0139113=Collagen=PD(69.4=72.3),PF0139113=Collagen=PU(20.5=17.0)
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:
TGTGCCCACATCTGCATCAAT
R:
GGCCTTGCTTAATGTGGGACA
Band lengths:
244-345
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development