HsaEX6063848 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134818656-134819053:+
Coord C1 exon
chr9:134818656-134818763
Coord A exon
chr9:134818848-134818901
Coord C2 exon
chr9:134819000-134819053
Length
54 bp
Sequences
Splice sites
3' ss Seq
AGAGCGTCTCTGTGTTTCAGGGA
3' ss Score
8.38
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
GGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTG
Seq A exon
GGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATG
Seq C2 exon
GGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'114-98,'114-97,115-98
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=PU(34.3=63.9)
A:
PF0139113=Collagen=FE(25.4=100),PF0139113=Collagen=PU(5.6=27.8)
C2:
PF0139113=Collagen=FE(25.4=100),PF0139113=Collagen=FE(18.9=100)
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:
GAGAAGCCGGCTTGGAAGG
R:
CAGAATCTCCTTTGAGGCCGG
Band lengths:
144-198
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains