HsaEX1009362 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178306875-178590555:-
Coord C1 exon
chr5:178589904-178590555
Coord A exon
chr5:178560682-178560748
Coord C2 exon
chr5:178306875-178306919
Length
67 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTCCGGCTCAGAAG
3' ss Score
7.25
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
TGCATAGAGGAAACTGCCCAAAGTGGCCGCTGTGGAGGAGCTGGCTGCGGCGAAGGGGGCGTGCGCGGCGATCCGCTGCTACCCGGAGGCTAACCCCCGCGCCCGGCGGACCTCGTGCCTCGGGCTGTCCCGCCTGCTCCTCTCGCACCCAGCCTCTGCCCCAGCAGCACCGCCCCCTCGGAGAGTCCACGCGCGACGAACGCGCCATGGGCCCAGGCGAGCGCGCCGGTGGCGGCGGCGACGCGGGGAAGGGCAATGCGGCGGGCGGCGGCGGCGGAGGGCGCTCGGCGACGACGGCCGGGTCCCGGGCGGTGAGCGCGCTGTGCCTGCTGCTCTCCGTGGGCTCGGCGGCTGCCTGCCTGCTGCTGGGTGTCCAGGCGGCCGCGCTGCAGGGCCGGGTGGCGGCGCTCGAGGAGGAGCGGGAGCTGCTGCGGCGCGCGGGGCCGCCAGGCGCCCTGGACGCCTGGGCCGAGCCGCACCTGGAGCGCCTGCTGCGGGAG
Seq A exon
AAGTTGGACGGACTAGCGAAGATCCGGACTGCTCGGGAAGCTCCATCCGAATGTGTCTGCCCCCCAG
Seq C2 exon
GGCCCCCTGGACGGCGCGGCAAGCCTGGGAGAAGAGGCGACCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767-'0-34,'0-3,10-34
Average complexity
C1
Mappability confidence:
82%=100=76%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.556 A=0.925 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
PF0139113=Collagen=PU(7.0=17.4)
C2:
PF0139113=Collagen=FE(26.3=100)
Main Skipping Isoform:
ENST00000390654fB31694
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGCTGCTGGGTGTCCA
R:
CCTCTTCTCCCAGGCTTGCC
Band lengths:
179-246
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains