HsaEX6063869 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134795082-134796418:+
Coord C1 exon
chr9:134795082-134795126
Coord A exon
chr9:134795262-134795315
Coord C2 exon
chr9:134796374-134796418
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTTCTCTCCCATCTGTCCAGGGT
3' ss Score
8.5
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
GGGACCCCTGGAAAGCCAGGACCGCGGGGGCAGCGAGGCCCAACG
Seq A exon
GGTCCGAGGGGTGAAAGAGGCCCCCGGGGCATCACTGGGAAGCCTGGCCCCAAG
Seq C2 exon
GGCAACTCCGGAGGTGACGGCCCAGCTGGCCCTCCTGGTGAACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'82-65,'82-63,83-65=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.945 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(16.1=100)
A:
PF0139113=Collagen=FE(24.6=100),PF0139113=Collagen=PU(7.9=27.8)
C2:
PF0139113=Collagen=FE(16.1=100),PF0139113=Collagen=PU(17.7=93.3)
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:
GGGACCCCTGGAAAGCCA
R:
CGTTCACCAGGAGGGCCAG
Band lengths:
89-143
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains