HsaEX6063868 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134795262-134796901:+
Coord C1 exon
chr9:134795262-134795315
Coord A exon
chr9:134796374-134796418
Coord C2 exon
chr9:134796848-134796901
Length
45 bp
Sequences
Splice sites
3' ss Seq
CCCTCTCCTTCCCTCTCAAGGGC
3' ss Score
10.68
5' ss Seq
CGGGTAAGC
5' ss Score
9.14
Exon sequences
Seq C1 exon
GGTCCGAGGGGTGAAAGAGGCCCCCGGGGCATCACTGGGAAGCCTGGCCCCAAG
Seq A exon
GGCAACTCCGGAGGTGACGGCCCAGCTGGCCCTCCTGGTGAACGG
Seq C2 exon
GGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'83-66,'83-65,84-66
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=FE(24.6=100),PF0139113=Collagen=PU(7.9=27.8)
A:
PF0139113=Collagen=FE(16.1=100),PF0139113=Collagen=PU(17.7=93.3)
C2:
PF0139113=Collagen=PD(9.2=44.4),PF0139113=Collagen=FE(21.5=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:
GGTCCGAGGGGTGAAAGAGG
R:
GCCCTTTGGTCCAGGAAATCC
Band lengths:
102-147
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains