HsaEX0016446 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178252544-178256397:-
Coord C1 exon
chr5:178256353-178256397
Coord A exon
chr5:178254949-178255026
Coord C2 exon
chr5:178252544-178252597
Length
78 bp
Sequences
Splice sites
3' ss Seq
TACTCTTCTTCCTGCCTCAGGGT
3' ss Score
8.77
5' ss Seq
AAGGTAGTG
5' ss Score
5.56
Exon sequences
Seq C1 exon
GGGGAGCCTGGCCACCGAGGCACGGATGGAGCTGCAGGGCCCCGG
Seq A exon
GGTGCCCCAGGCCTCAAGGGCGAGCAGGGAGACACAGTGGTGATCGACTATGATGGCAGGATCTTGGATGCCCTCAAG
Seq C2 exon
GGGCCTCCCGGACCACAGGGGCCCCCAGGGCCACCAGGGATCCCTGGAGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767_MULTIEX1-1/3=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.964 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(24.1=100)
A:
PF0139113=Collagen=PD(20.7=46.2),PF0139113=Collagen=PU(4.9=11.5)
C2:
PF0139113=Collagen=FE(27.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCACGGATGGAGCTGCAG
R:
CTTGGCTCCAGGGATCCC
Band lengths:
80-158
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