HsaEX6063865 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134798408-134802995:+
Coord C1 exon
chr9:134798408-134798461
Coord A exon
chr9:134801954-134802007
Coord C2 exon
chr9:134802888-134802995
Length
54 bp
Sequences
Splice sites
3' ss Seq
CAGTGACTCTCTCTTCACAGGGT
3' ss Score
8.69
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
GGCCCTCCAGGCAAGGATGGACTCCCAGGACACCCTGGACAGAGAGGCGAGACT
Seq A exon
GGTTTCCAAGGCAAGACCGGCCCTCCAGGCCCCCCCGGCGTGGTCGGCCCTCAG
Seq C2 exon
GGTCCCACGGGAGAAACGGGCCCAATGGGTGAGCGTGGCCACCCTGGGCCCCCTGGACCCCCCGGTGAACAGGGGCTTCCGGGCCTTGCTGGAAAAGAAGGGACGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'86-72,'86-70,89-72=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(21.5=100)
A:
PF0139113=Collagen=FE(21.5=100),PF0139113=Collagen=PU(25.8=94.4)
C2:
PF0139113=Collagen=PD(13.6=30.6),PF0139113=Collagen=FE(50.7=100),PF0139113=Collagen=PU(30.5=80.6)
Main Skipping Isoform:
ENST00000371817fB12808
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGCAAGGATGGACTCCCA
R:
CCTTCTTTTCCAGCAAGGCCC
Band lengths:
148-202
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains