HsaEX0016442 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178256353-178257567:-
Coord C1 exon
chr5:178257523-178257567
Coord A exon
chr5:178256866-178256928
Coord C2 exon
chr5:178256353-178256397
Length
63 bp
Sequences
Splice sites
3' ss Seq
TGCAGCTGTGTCTGTTTCAGGGC
3' ss Score
11.03
5' ss Seq
AAGGTGACA
5' ss Score
5.19
Exon sequences
Seq C1 exon
GGCGACGATGGGACACCAAGCCAGCCTGGACCACCAGGGCCCAAG
Seq A exon
GGCGAGCCAGGGAGCATGGGGCCTCGGGGAGAGAACGGTGTGGACGGTGCCCCAGGACCGAAG
Seq C2 exon
GGGGAGCCTGGCCACCGAGGCACGGATGGAGCTGCAGGGCCCCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767_MULTIEX3-2/2=C1-C2
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(21.0=86.7),PF0139113=Collagen=PU(13.8=53.3)
A:
PF0139113=Collagen=PD(15.2=57.1),PF0139113=Collagen=FE(34.5=100)
C2:
PF0139113=Collagen=FE(24.1=100)
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:
TGGGACACCAAGCCAGCC
R:
CCCTGCAGCTCCATCCGT
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