HsaEX0016605 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134766454-134767354:+
Coord C1 exon
chr9:134766454-134766498
Coord A exon
chr9:134767000-134767053
Coord C2 exon
chr9:134767310-134767354
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTGCTCTTGTCTCCTGTAGGGT
3' ss Score
11.7
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
Exon sequences
Seq C1 exon
GGTGTCACGGGTATGGACGGCCAGCCGGGGCCAAAAGGAAATGTG
Seq A exon
GGTCCCCAGGGAGAGCCTGGCCCCCCAGGACAGCAGGGTAATCCAGGCGCCCAG
Seq C2 exon
GGTCTTCCAGGCCCCCAGGGTGCAATTGGTCCTCCAGGAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635_CASSETTE4
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(17.7=100)
A:
PF0139113=Collagen=FE(17.5=100),PF0139113=Collagen=PU(22.4=94.4)
C2:
PF0139113=Collagen=FE(17.7=100),PF0139113=Collagen=FE(14.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGTCACGGGTATGGACGG
R:
CTCCTGGAGGACCAATTGCAC
Band lengths:
85-139
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