HsaEX6063873 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134780102-134785096:+
Coord C1 exon
chr9:134780102-134780146
Coord A exon
chr9:134782667-134782720
Coord C2 exon
chr9:134784989-134785096
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTCTCTTGTCCCATATTCAGGGT
3' ss Score
9.39
5' ss Seq
CGGGTGAGC
5' ss Score
8.19
Exon sequences
Seq C1 exon
GGGGCCGATGGCATCCGTGGTCTGAAGGGCACAAAGGGCGAGAAG
Seq A exon
GGTGAAGACGGCTTTCCTGGGTTTAAAGGAGACATGGGCATCAAGGGTGATCGG
Seq C2 exon
GGGGAGATCGGCCCACCCGGTCCCAGGGGAGAAGATGGCCCTGAAGGCCCAAAGGGTCGCGGAGGTCCCAATGGTGACCCCGGTCCTCTGGGACCCCCTGGGGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'70-57,'70-54,73-57
Average complexity
C1
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(20.3=100)
A:
PF0139113=Collagen=FE(22.1=100),PF0139113=Collagen=PU(7.9=27.8)
C2:
PF0139113=Collagen=PD(9.1=19.4),PF0139113=Collagen=FE(55.6=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:
CGATGGCATCCGTGGTCTGAA
R:
CCCAGAGGACCGGGGTCA
Band lengths:
132-186
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains