HsaEX0016437 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178247526-178248254:-
Coord C1 exon
chr5:178248192-178248254
Coord A exon
chr5:178247775-178247831
Coord C2 exon
chr5:178247526-178247552
Length
57 bp
Sequences
Splice sites
3' ss Seq
CTGTCTCTCACCCTCCCTAGGCT
3' ss Score
11.22
5' ss Seq
ATGGTAAGG
5' ss Score
9.33
Exon sequences
Seq C1 exon
GGCGCTGACGGCCTCAAGGGGGAGAAGGGGGAGTCGGCGTCTGACAGCCTACAGGAGAGCCTG
Seq A exon
GCTCAGCTCATAGTGGAGCCAGGGCCCCCTGGCCCCCCTGGCCCCCCAGGCCCGATG
Seq C2 exon
GGCCTCCAGGGAATCCAGGGTCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767-'49-69,'49-68,51-69
Average complexity
C1
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(27.1=76.2)
A:
PF0139113=Collagen=PU(21.0=68.4)
C2:
PF0139113=Collagen=FE(12.9=100)
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:
GACGGCCTCAAGGGGGAG
R:
CTTGGGACCCTGGATTCCCT
Band lengths:
84-141
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