HsaEX0016656 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48574488-48574865:-
Coord C1 exon
chr3:48574797-48574865
Coord A exon
chr3:48574677-48574721
Coord C2 exon
chr3:48574488-48574550
Length
45 bp
Sequences
Splice sites
3' ss Seq
TTGACATCTCATCCCCACAGGGG
3' ss Score
10.4
5' ss Seq
AGGGTGAGG
5' ss Score
7.13
Exon sequences
Seq C1 exon
GTGTCTGTGGATGAGCCAGGTCCTGGACTCTCTGGAGAACAGGGACCCCCTGGACTCAAGGGTGCTAAG
Seq A exon
GGGGAGCCGGGCAGCAATGGTGACCAAGGTCCCAAAGGAGACAGG
Seq C2 exon
GGTGTGCCAGGCATCAAAGGAGACCGGGGAGAGCCTGGACCGAGGGGTCAGGACGGCAACCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270_CASSETTE4
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(7.6=21.7),PF0139113=Collagen=PU(28.3=73.9)
A:
PF0139113=Collagen=FE(23.3=100)
C2:
PF0139113=Collagen=FE(33.3=100),PF0139113=Collagen=PU(2.9=9.5)
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:
TGGATGAGCCAGGTCCTG
R:
GGGTTGCCGTCCTGACCC
Band lengths:
124-169
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