HsaEX0016651 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48580300-48580926:-
Coord C1 exon
chr3:48580882-48580926
Coord A exon
chr3:48580581-48580652
Coord C2 exon
chr3:48580300-48580344
Length
72 bp
Sequences
Splice sites
3' ss Seq
AGGCCAGCTGCTCTTCTTAGGGG
3' ss Score
2.15
5' ss Seq
AATGTGAGT
5' ss Score
7.8
Exon sequences
Seq C1 exon
GGTGACCCGGGTTTGCCTGGAAAAGCAGGCGAGCGTGGCCTTCGG
Seq A exon
GGGGCACCTGGAGTTCGGGGGCCTGTGGGTGAAAAGGGAGACCAGGGAGATCCTGGAGAGGATGGACGAAAT
Seq C2 exon
GGCAGCCCTGGATCATCTGGACCCAAGGGTGACCGTGGGGAGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'67-83,'67-81,68-83
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=FE(15.9=100),PF0139113=Collagen=PU(13.6=60.0)
A:
PF0139113=Collagen=FE(26.1=100),PF0139113=Collagen=FE(34.8=100)
C2:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(21.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGACCCGGGTTTGCCT
R:
CTCCCCACGGTCACCCTT
Band lengths:
87-159
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