HsaEX0016441 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178246254-178247552:-
Coord C1 exon
chr5:178247526-178247552
Coord A exon
chr5:178246391-178246453
Coord C2 exon
chr5:178246254-178246307
Length
63 bp
Sequences
Splice sites
3' ss Seq
TTTCCCTCCTTTGCCTCCAGGGC
3' ss Score
12.39
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
Exon sequences
Seq C1 exon
GGCCTCCAGGGAATCCAGGGTCCCAAG
Seq A exon
GGCTTGGATGGAGCAAAGGGAGAGAAGGGTGCGTCGGGTGAGAGAGGCCCCAGCGGCCTGCCT
Seq C2 exon
GGGCCAGTTGGCCCACCGGGCCTTATTGGGCTGCCAGGAACCAAAGGAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767-'52-71,'52-70,56-71
Average complexity
S
Mappability confidence:
89%=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=FE(12.9=100)
A:
PF0139113=Collagen=FE(32.3=100)
C2:
PF0139113=Collagen=FE(27.4=100),PF0139113=Collagen=PU(11.4=44.4)
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:
CTCCAGGGAATCCAGGGTCC
R:
TCTCTCCTTTGGTTCCTGGCA
Band lengths:
76-139
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