HsaEX6063867 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134796374-134798461:+
Coord C1 exon
chr9:134796374-134796418
Coord A exon
chr9:134796848-134796901
Coord C2 exon
chr9:134798408-134798461
Length
54 bp
Sequences
Splice sites
3' ss Seq
TGGCCTTTCTCTGTTCCCAGGGA
3' ss Score
10.72
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GGCAACTCCGGAGGTGACGGCCCAGCTGGCCCTCCTGGTGAACGG
Seq A exon
GGACCCAATGGACCCCAAGGACCCACAGGATTTCCTGGACCAAAGGGCCCCCCT
Seq C2 exon
GGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'84-67,'84-66,85-67=AN
Average complexity
A_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(16.1=100),PF0139113=Collagen=PU(17.7=93.3)
A:
PF0139113=Collagen=PD(9.2=44.4),PF0139113=Collagen=FE(21.5=100)
C2:
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:
GAGGTGACGGCCCAGCTG
R:
AGTCTCGCCTCTCTGTCCAG
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