HsaEX6055805 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48579480-48579814:-
Coord C1 exon
chr3:48579785-48579814
Coord A exon
chr3:48579588-48579668
Coord C2 exon
chr3:48579480-48579515
Length
81 bp
Sequences
Splice sites
3' ss Seq
CAAGCTTATCTCTGCCACAGGGA
3' ss Score
7.27
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
Exon sequences
Seq C1 exon
GTAGACACAGGACCTGGAGCCAGAGAGAAG
Seq A exon
GGAGAGCCTGGGGACCGCGGACAAGAGGGTCCTCGAGGGCCCAAGGGTGATCCTGGCCTCCCTGGAGCCCCTGGGGAAAGG
Seq C2 exon
GGCATTGAAGGGTTTCGGGGACCCCCAGGCCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'71-90,'71-89,73-90=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=PD(10.6=70.0),PF0139113=Collagen=PU(7.9=50.0)
A:
PF0139113=Collagen=FE(28.3=100)
C2:
PF0139113=Collagen=FE(12.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTAGACACAGGACCTGGAGCC
R:
GGTCCCCGAAACCCTTCAATG
Band lengths:
53-134
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains