HsaEX6101500 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178242042-178245968:-
Coord C1 exon
chr5:178245942-178245968
Coord A exon
chr5:178242341-178242394
Coord C2 exon
chr5:178242042-178242128
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCATCTAATCCTTTTGTCAGGGT
3' ss Score
5.08
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
GGCAGACCCGGGGAGCCAGGACTAGAT
Seq A exon
GGTTTCCCTGGACCCCGAGGAGAGAAAGGTGATCGGAGCGAGCGTGGAGAGAAG
Seq C2 exon
GGAGAACGAGGGGTCCCCGGCCGGAAAGGAGTGAAGGGCCAGAAGGGCGAGCCGGGACCACCAGGCCTGGACCAGCCGTGTCCCGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767_MULTIEX4-2/2=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=FE(11.4=100)
A:
PF0139113=Collagen=FE(24.3=100)
C2:
PF0139113=Collagen=PD(41.3=89.7)
Main Skipping Isoform:
ENST00000390654fB12749
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGGGGAGCCAGGACTAGAT
R:
GGACACGGCTGGTCCAGG
Band lengths:
103-157
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains