HsaEX6101490 @ hg38
Exon Skipping
Gene
ENSG00000050767 | COL23A1
Description
collagen type XXIII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22990]
Coordinates
chr5:178560682-178590555:-
Coord C1 exon
chr5:178589904-178590555
Coord A exon
chr5:178561731-178562006
Coord C2 exon
chr5:178560682-178560748
Length
276 bp
Sequences
Splice sites
3' ss Seq
GGTAACTTCTTCTGTTTTAGGAT
3' ss Score
10.02
5' ss Seq
TAGGTCAGC
5' ss Score
4.81
Exon sequences
Seq C1 exon
TGCATAGAGGAAACTGCCCAAAGTGGCCGCTGTGGAGGAGCTGGCTGCGGCGAAGGGGGCGTGCGCGGCGATCCGCTGCTACCCGGAGGCTAACCCCCGCGCCCGGCGGACCTCGTGCCTCGGGCTGTCCCGCCTGCTCCTCTCGCACCCAGCCTCTGCCCCAGCAGCACCGCCCCCTCGGAGAGTCCACGCGCGACGAACGCGCCATGGGCCCAGGCGAGCGCGCCGGTGGCGGCGGCGACGCGGGGAAGGGCAATGCGGCGGGCGGCGGCGGCGGAGGGCGCTCGGCGACGACGGCCGGGTCCCGGGCGGTGAGCGCGCTGTGCCTGCTGCTCTCCGTGGGCTCGGCGGCTGCCTGCCTGCTGCTGGGTGTCCAGGCGGCCGCGCTGCAGGGCCGGGTGGCGGCGCTCGAGGAGGAGCGGGAGCTGCTGCGGCGCGCGGGGCCGCCAGGCGCCCTGGACGCCTGGGCCGAGCCGCACCTGGAGCGCCTGCTGCGGGAG
Seq A exon
GATCTGCTTCGCTCTCTGCGCCTCTTGTTGCCCGTCTGTAAAATGAGGCTGAAATGGCAGGTGGAGTGGAACTGTGAAGCGCCTTTCCGGTGGCTGGAGGTGCCCTGGTGAAGTCTCCCGGTCCTGGGCTGTTCCAGTCAGAGGCAGACAGGGCCTGGCTGAGGTCTTGTCGTCTGTGCAAATTCTCTCCTCCTCTAAAGCAGTGCCTAAAAATACTGTTTAATGTTTGAACAGGAAGCCCTCGGTTCTCATGGTGGCGCTGCACTGTTCACTTAG
Seq C2 exon
AAGTTGGACGGACTAGCGAAGATCCGGACTGCTCGGGAAGCTCCATCCGAATGTGTCTGCCCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767_CASSETTE4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=0.556 A=0.000 C2=0.925
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0139113=Collagen=PU(7.0=17.4)
Main Inclusion Isoform:
ENST00000390654fB31694
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
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:
GACGCGGGGAAGGGCAAT
R:
GAGCAGTCCGGATCTTCGCTA
Band lengths:
295-571
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains