HsaEX6063866 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134796848-134802007:+
Coord C1 exon
chr9:134796848-134796901
Coord A exon
chr9:134798408-134798461
Coord C2 exon
chr9:134801954-134802007
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCCTTTGGTTTTTTCTTCAGGGC
3' ss Score
11.25
5' ss Seq
ACTGTGAGT
5' ss Score
7.94
Exon sequences
Seq C1 exon
GGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCT
Seq A exon
GGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACT
Seq C2 exon
GGTTTCCAAGGCAAGACCGGCCCTCCAGGCCCCCCCGGCGTGGTCGGCCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'85-70,'85-67,86-70
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=PD(9.2=44.4),PF0139113=Collagen=FE(21.5=100)
A:
PF0139113=Collagen=FE(21.5=100)
C2:
PF0139113=Collagen=FE(21.5=100),PF0139113=Collagen=PU(25.8=94.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCCAATGGACCCCAAGGA
R:
CCTGGAGGGCCGGTCTTG
Band lengths:
82-136
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains