HsaEX0016608 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134789155-134795315:+
Coord C1 exon
chr9:134789155-134789208
Coord A exon
chr9:134795082-134795126
Coord C2 exon
chr9:134795262-134795315
Length
45 bp
Sequences
Splice sites
3' ss Seq
AGCCCCTTCTCTGATTCTAGGGG
3' ss Score
8.04
5' ss Seq
ACGGTAACC
5' ss Score
6.62
Exon sequences
Seq C1 exon
GGCTCTATTGGATTCCCTGGATTTCCTGGCGCCAATGGAGAGAAGGGCGGCAGG
Seq A exon
GGGACCCCTGGAAAGCCAGGACCGCGGGGGCAGCGAGGCCCAACG
Seq C2 exon
GGTCCGAGGGGTGAAAGAGGCCCCCGGGGCATCACTGGGAAGCCTGGCCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'79-63,'79-62,82-63
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=0.945 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(19.5=100)
A:
PF0139113=Collagen=FE(16.1=100)
C2:
PF0139113=Collagen=FE(24.6=100),PF0139113=Collagen=PU(7.9=27.8)
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:
GGCTCTATTGGATTCCCTGGA
R:
CTTGGGGCCAGGCTTCCC
Band lengths:
108-153
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development