HsaEX6047828 @ hg38
Exon Skipping
Gene
ENSG00000124749 | COL21A1
Description
collagen type XXI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:17025]
Coordinates
chr6:56074232-56077573:-
Coord C1 exon
chr6:56077529-56077573
Coord A exon
chr6:56075479-56075532
Coord C2 exon
chr6:56074232-56074285
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTAATGTTTGATTTTTTTAGGGA
3' ss Score
9.2
5' ss Seq
CCTGTATGT
5' ss Score
4.27
Exon sequences
Seq C1 exon
GGAATCCCAGGATTTCCTGGAAACCGAGGATTAATGGGCCAAAAG
Seq A exon
GGAGAAATTGGGCCTCCAGGACAGCAAGGAAAAAAAGGAGCCCCAGGGATGCCT
Seq C2 exon
GGTTTAATGGGAAGCAATGGCTCACCAGGCCAGCCTGGAACACCGGGATCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124749-'36-43,'36-42,38-43
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(16.7=100),PF0139113=Collagen=PU(2.5=13.3)
A:
PF0139113=Collagen=FE(20.2=100),PF0139113=Collagen=FE(21.2=100)
C2:
PF0139113=Collagen=PD(13.1=61.1),PF0139113=Collagen=FE(21.2=100)
Main Skipping Isoform:
NA
Other Skipping 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
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGATTTCCTGGAAACCGAGGA
R:
TTAGATCCCGGTGTTCCAGGC
Band lengths:
90-144
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains