HsaEX0016434 @ hg38
Exon Skipping
Gene
ENSG00000169436 | COL22A1
Description
collagen type XXII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22989]
Coordinates
chr8:138720739-138737577:-
Coord C1 exon
chr8:138737524-138737577
Coord A exon
chr8:138724615-138724668
Coord C2 exon
chr8:138720739-138720792
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCCATGTGGTCCCCTTTCAGGGT
3' ss Score
10.43
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
Exon sequences
Seq C1 exon
GGGAAGAAAGGTGACATGGGACCACCTGGAATCCCTGGATTGCTGGGGCTGCAG
Seq A exon
GGTTTGCCTGGAGAGATCGGCTTCCCGGGAAAGCCTGGACCTCCTGGGCCCACG
Seq C2 exon
GGAGAACCAGGAGAAAGAGGGGAAGATGGTCTGCCTGGAAAACCAGGCCTTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169436_MULTIEX2-2/3=C1-C2
Average complexity
C3
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(23.3=77.8),PF0139113=Collagen=FE(22.4=100)
A:
PF0139113=Collagen=FE(22.4=100),PF0139113=Collagen=PU(13.6=61.1)
C2:
PF0139113=Collagen=PD(2.4=11.1),PF0139113=Collagen=FE(25.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
GGGAAGAAAGGTGACATGGGAC
R:
CCGAAGGCCTGGTTTTCCA
Band lengths:
108-162
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