HsaEX0016447 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178250061-178255026:-
Coord C1 exon
chr5:178254949-178255026
Coord A exon
chr5:178252544-178252597
Coord C2 exon
chr5:178250061-178250105
Length
54 bp
Sequences
Splice sites
3' ss Seq
GGCTTCACTCTCACACACAGGGG
3' ss Score
6.18
5' ss Seq
AAGGTCAGT
5' ss Score
8.68
Exon sequences
Seq C1 exon
GGTGCCCCAGGCCTCAAGGGCGAGCAGGGAGACACAGTGGTGATCGACTATGATGGCAGGATCTTGGATGCCCTCAAG
Seq A exon
GGGCCTCCCGGACCACAGGGGCCCCCAGGGCCACCAGGGATCCCTGGAGCCAAG
Seq C2 exon
GGCGAGCTTGGATTGCCCGGTGCCCCAGGAATCGATGGAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767_MULTIEX1-3/3=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.964 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(20.7=46.2),PF0139113=Collagen=PU(4.9=11.5)
A:
PF0139113=Collagen=FE(27.9=100)
C2:
PF0139113=Collagen=FE(23.0=100),PF0139113=Collagen=PU(18.6=73.3)
Main Skipping Isoform:
ENST00000390654fB12747
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCAAGGGCGAGCAGGGAG
R:
TCTCTCCATCGATTCCTGGGG
Band lengths:
109-163
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