HsaEX1009356 @ hg38
Exon Skipping
Gene
ENSG00000124749 | COL21A1
Description
collagen type XXI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:17025]
Coordinates
chr6:56164423-56166983:-
Coord C1 exon
chr6:56166906-56166983
Coord A exon
chr6:56164814-56164822
Coord C2 exon
chr6:56164423-56164506
Length
9 bp
Sequences
Splice sites
3' ss Seq
ATTTGTTGTTTTTCTTTCAGAAT
3' ss Score
10.77
5' ss Seq
GAGGTAGGC
5' ss Score
8.99
Exon sequences
Seq C1 exon
TTTGATGTCCAAAAGTTGCGAATCTACTGTGACCCAGAACAGAACAACCGGGAGACAGCATGTGAGATTCCTGGATTT
Seq A exon
AATGGAGAG
Seq C2 exon
TGCCTTAATGGTCCCAGTGATGTAGGTTCAACTCCAGCTCCCTGTATTTGTCCTCCGGGAAAACCAGGACTTCAAGGCCCCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124749-'14-16,'14-14,16-16
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.245 A=0.188 C2=0.816
Domain overlap (PFAM):
C1:
PF133851=Laminin_G_3=PD(8.0=42.3)
A:
NO
C2:
PF0139113=Collagen=PU(19.6=39.3)
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGAACAGAACAACCGGGAG
R:
CGGAGGACAAATACAGGGAGC
Band lengths:
102-111
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains