HsaEX6101495 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178254949-178256928:-
Coord C1 exon
chr5:178256866-178256928
Coord A exon
chr5:178256353-178256397
Coord C2 exon
chr5:178254949-178255026
Length
45 bp
Sequences
Splice sites
3' ss Seq
GCAAATGCATGTCTCCACAGGGG
3' ss Score
7.23
5' ss Seq
CGGGTAAGC
5' ss Score
9.14
Exon sequences
Seq C1 exon
GGCGAGCCAGGGAGCATGGGGCCTCGGGGAGAGAACGGTGTGGACGGTGCCCCAGGACCGAAG
Seq A exon
GGGGAGCCTGGCCACCGAGGCACGGATGGAGCTGCAGGGCCCCGG
Seq C2 exon
GGTGCCCCAGGCCTCAAGGGCGAGCAGGGAGACACAGTGGTGATCGACTATGATGGCAGGATCTTGGATGCCCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767-'37-58,'37-57,38-58
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=0.964
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(15.2=57.1),PF0139113=Collagen=FE(34.5=100)
A:
PF0139113=Collagen=FE(24.1=100)
C2:
PF0139113=Collagen=PD(20.7=46.2),PF0139113=Collagen=PU(4.9=11.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCCAGGGAGCATGGGG
R:
GGCATCCAAGATCCTGCCATC
Band lengths:
132-177
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains