HsaEX0016444 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178261722-178263324:-
Coord C1 exon
chr5:178263208-178263324
Coord A exon
chr5:178262217-178262252
Coord C2 exon
chr5:178261722-178261748
Length
36 bp
Sequences
Splice sites
3' ss Seq
GTCCCCTCACACTTCCGCAGGGC
3' ss Score
8.88
5' ss Seq
ATGGTCAGT
5' ss Score
6.57
Exon sequences
Seq C1 exon
GGAGACCAAGGACAAGATGGAGCTGCTGGGCCTCCGGGGCCCCCTGGACCTCCTGGGGCCCGGGGCCCTCCTGGCGACACTGGGAAAGATGGCCCCAGGGGAGCACAAGGCCCAGCG
Seq A exon
GGCCCCAAAGGAGAGCCCGGACAAGACGGCGAGATG
Seq C2 exon
GGCCCAAAGGGACCCCCAGGGCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767_CASSETTE3
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=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(48.7=100),PF0139113=Collagen=PU(21.9=35.9)
A:
PF0139113=Collagen=PD(12.0=83.3),PF0139113=Collagen=FE(17.7=100)
C2:
PF0139113=Collagen=PD(3.6=22.2),PF0139113=Collagen=FE(10.1=100)

Main Skipping Isoform:
NA
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:
GACAAGATGGAGCTGCTGGG
R:
CCTGGGGGTCCCTTTGGG
Band lengths:
127-163
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