HsaEX6063845 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134822097-134823469:+
Coord C1 exon
chr9:134822097-134822150
Coord A exon
chr9:134822998-134823033
Coord C2 exon
chr9:134823416-134823469
Length
36 bp
Sequences
Splice sites
3' ss Seq
CTGCCCTCCTCTCTCTGCAGGGT
3' ss Score
13.23
5' ss Seq
TCGGTAAGT
5' ss Score
11.78
Exon sequences
Seq C1 exon
GGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCG
Seq A exon
GGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCG
Seq C2 exon
GGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'119-104,'119-103,120-104
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=PD(17.9=66.7),PF0139113=Collagen=FE(27.0=100)
A:
PF0139113=Collagen=FE(12.2=100),PF0139113=Collagen=FE(18.3=100)
C2:
PF0139113=Collagen=FE(27.0=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:
TATCACTGGTCCTTCTGGCCC
R:
CTGGGTGGCCTGCCTCAC
Band lengths:
89-125
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains