HsaEX6063870 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134785995-134795126:+
Coord C1 exon
chr9:134785995-134786048
Coord A exon
chr9:134789155-134789208
Coord C2 exon
chr9:134795082-134795126
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTCCTTAAACTCTCTTTCAGGGC
3' ss Score
10.13
5' ss Seq
AGGGTAAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
GGAAAACTCGGAGTCCCAGGGTTACCAGGGTATCCAGGAAGACAAGGACCAAAG
Seq A exon
GGCTCTATTGGATTCCCTGGATTTCCTGGCGCCAATGGAGAGAAGGGCGGCAGG
Seq C2 exon
GGGACCCCTGGAAAGCCAGGACCGCGGGGGCAGCGAGGCCCAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'77-62,'77-60,79-62
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=0.945
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PU(12.6=61.1)
A:
PF0139113=Collagen=FE(19.5=100)
C2:
PF0139113=Collagen=FE(16.1=100)
Main Skipping Isoform:
ENST00000371817fB12806
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACTCGGAGTCCCAGGGTTAC
R:
CGCGGTCCTGGCTTTCCA
Band lengths:
76-130
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains