HsaEX0016422 @ hg38
Exon Skipping
Gene
ENSG00000124749 | COL21A1
Description
collagen type XXI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:17025]
Coordinates
chr6:56101472-56124115:-
Coord C1 exon
chr6:56124062-56124115
Coord A exon
chr6:56108788-56108812
Coord C2 exon
chr6:56101472-56101525
Length
25 bp
Sequences
Splice sites
3' ss Seq
ATTGTATGTTTAATTTTCAGGAA
3' ss Score
9.17
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
GGAGAACCAGGAAGACATGGAAAGGATGGATTAATGGGTAGTCCCGGTTTCAAG
Seq A exon
GAATGTTCCCTGTGCATATGAGAAG
Seq C2 exon
GGAGAAGCAGGATCCCCTGGTGCTCCGGGGCAGGATGGAACACGGGGAGAGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124749_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.960 A=0.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(24.6=100),PF0139113=Collagen=FE(20.2=100)
A:
NO
C2:
PF0139113=Collagen=PD(11.6=44.4),PF0139113=Collagen=FE(20.2=100)
Main Inclusion Isoform:
ENST00000244728fB1736
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
CAGGAAGACATGGAAAGGATGGA
R:
CTCTCCCCGTGTTCCATCCT
Band lengths:
98-123
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