HsaEX0016435 @ hg38
Exon Skipping
Gene
ENSG00000169436 | COL22A1
Description
collagen type XXII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22989]
Coordinates
chr8:138720739-138724668:-
Coord C1 exon
chr8:138724615-138724668
Coord A exon
chr8:138722036-138722089
Coord C2 exon
chr8:138720739-138720792
Length
54 bp
Sequences
Splice sites
3' ss Seq
GTTTTCCCCTCTTGGCCCAGGGA
3' ss Score
7.32
5' ss Seq
AAGGTTGGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GGTTTGCCTGGAGAGATCGGCTTCCCGGGAAAGCCTGGACCTCCTGGGCCCACG
Seq A exon
GGACCCCCTGGAAAGGACGGGCCAAATGGACCACCAGGTCCGCCAGGAACCAAG
Seq C2 exon
GGAGAACCAGGAGAAAGAGGGGAAGATGGTCTGCCTGGAAAACCAGGCCTTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169436_MULTIEX2-3/3=2-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(22.4=100),PF0139113=Collagen=PU(13.6=61.1)
A:
PF0139113=Collagen=FE(20.2=100),PF0139113=Collagen=FE(25.4=100)
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
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:
GGTTTGCCTGGAGAGATCGG
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