HsaEX0016609 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134812605-134814904:+
Coord C1 exon
chr9:134812605-134812712
Coord A exon
chr9:134813983-134814036
Coord C2 exon
chr9:134814797-134814904
Length
54 bp
Sequences
Splice sites
3' ss Seq
CACATGCACTGTCTCCCTAGGGC
3' ss Score
9.88
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GGCCCCCCGGGTCCCCCTGGCCCCCGAGGACCCTCCGGAGCTCCAGGTGCTGATGGCCCACAAGGTCCCCCAGGTGGAATAGGAAACCCTGGTGCAGTGGGAGAGAAG
Seq A exon
GGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCG
Seq C2 exon
GGACCCAAAGGAGAAAGGGGAGAGAAGGGCGAGTCAGGCCCTTCAGGTGCTGCCGGACCCCCTGGACCCAAAGGCCCTCCCGGAGATGATGGTCCCAAAGGCAGCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'103-88,'103-87,104-88
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:
NO
A:
NO
C2:
NO
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:
GTCCCCCAGGTGGAATAGGAA
R:
GCCTTTGGGACCATCATCTCC
Band lengths:
146-200
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