HsaEX0016664 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48570639-48571160:-
Coord C1 exon
chr3:48571101-48571160
Coord A exon
chr3:48570861-48570968
Coord C2 exon
chr3:48570639-48570710
Length
108 bp
Sequences
Splice sites
3' ss Seq
CTTTGCTGTTTTTATTTCAGGGA
3' ss Score
11.68
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
Exon sequences
Seq C1 exon
GGTGACCCAGGAGTCGGGGTCCCGGGCTCCCCTGGGCCTCCTGGCCCTCCAGGTGTGAAG
Seq A exon
GGAGATCTGGGCCTCCCTGGCCTGCCCGGTGCTCCTGGTGTTGTTGGGTTCCCGGGTCAGACAGGCCCTCGAGGAGAGATGGGTCAGCCAGGCCCTAGTGGAGAGCGG
Seq C2 exon
GGTCTGGCAGGCCCCCCAGGGAGAGAAGGAATCCCAGGACCCCTGGGGCCACCTGGACCACCGGGGTCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'116-141,'116-139,119-141
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(8.6=25.0),PF0139113=Collagen=PU(25.9=75.0)
A:
PF0139113=Collagen=FE(60.3=100),PF0139113=Collagen=PU(28.8=47.2)
C2:
PF0139113=Collagen=PD(8.6=20.8),PF0139113=Collagen=FE(39.0=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:
GGTGACCCAGGAGTCGGG
R:
GGGTCCTGGGATTCCTTCTCT
Band lengths:
102-210
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