HsaEX6039137 @ hg38
Exon Skipping
Gene
ENSG00000183287 | CCBE1
Description
collagen and calcium binding EGF domains 1 [Source:HGNC Symbol;Acc:HGNC:29426]
Coordinates
chr18:59454851-59469607:-
Coord C1 exon
chr18:59469473-59469607
Coord A exon
chr18:59466739-59466891
Coord C2 exon
chr18:59454851-59454951
Length
153 bp
Sequences
Splice sites
3' ss Seq
CTACATTTGGTTCAAACCAGATA
3' ss Score
4.6
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
ATTACGACGTTTGTGCCGAGGCTCCCTGTGAACAGCAGTGCACGGACAACTTTGGCCGAGTGCTGTGTACTTGTTATCCGGGATACCGATATGACCGGGAGAGACACCGGAAGCGGGAGAAGCCATACTGTCTGG
Seq A exon
ATATTGATGAGTGTGCCAGCAGCAATGGGACGCTGTGTGCCCACATCTGCATCAATACCTTGGGCAGCTACCGCTGCGAGTGCCGGGAAGGCTACATCCGGGAAGATGATGGGAAGACATGTACCAGGGGAGACAAATATCCCAATGACACTG
Seq C2 exon
GCCATGAGAAGTCTGAGAACATGGTGAAAGCCGGAACTTGCTGTGCCACATGCAAGGAGTTCTACCAGATGAAGCAGACCGTGCTGCAGCTGAAGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183287_MULTIEX1-1/5=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.103 C2=0.116
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=PU(0.1=0.0)
A:
PF0764510=EGF_CA=WD(100=78.8)
C2:
NO
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:
ATTACGACGTTTGTGCCGAGG
R:
CTTTTGCTTCAGCTGCAGCAC
Band lengths:
236-389
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains