HsaEX6055789 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48583127-48583615:-
Coord C1 exon
chr3:48583556-48583615
Coord A exon
chr3:48583393-48583428
Coord C2 exon
chr3:48583127-48583171
Length
36 bp
Sequences
Splice sites
3' ss Seq
CCCAAATTCATCCCTTCCAGGGC
3' ss Score
8.04
5' ss Seq
AAAGTGAGT
5' ss Score
8.4
Exon sequences
Seq C1 exon
GGTGACTCTGAGGATGGAGCTCCAGGCCTCCCAGGACAACCTGGGTCTCCGGGTGAGCAG
Seq A exon
GGCCCACGGGGACCTCCTGGAGCTATTGGCCCCAAA
Seq C2 exon
GGTGACCGGGGCTTTCCAGGGCCCCTGGGTGAGGCTGGAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'52-64,'52-63,53-64
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(7.1=20.0),PF0139113=Collagen=PU(32.1=90.0)
A:
PF0139113=Collagen=FE(19.6=100)
C2:
PF0139113=Collagen=FE(25.0=100),PF0139113=Collagen=PU(8.3=33.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGACTCTGAGGATGGAGCT
R:
CTTCTCTCCAGCCTCACCCAG
Band lengths:
105-141
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains