HsaEX0016657 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48574262-48574721:-
Coord C1 exon
chr3:48574677-48574721
Coord A exon
chr3:48574488-48574550
Coord C2 exon
chr3:48574262-48574306
Length
63 bp
Sequences
Splice sites
3' ss Seq
GCACGACACTCTGCCTTCAGGGT
3' ss Score
7.1
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
Exon sequences
Seq C1 exon
GGGGAGCCGGGCAGCAATGGTGACCAAGGTCCCAAAGGAGACAGG
Seq A exon
GGTGTGCCAGGCATCAAAGGAGACCGGGGAGAGCCTGGACCGAGGGGTCAGGACGGCAACCCG
Seq C2 exon
GGTCTACCAGGAGAGCGTGGTATGGCTGGGCCTGAAGGGAAGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'95-115,'95-114,96-115
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(23.3=100)
A:
PF0139113=Collagen=FE(33.3=100),PF0139113=Collagen=PU(2.9=9.5)
C2:
PF0139113=Collagen=PD(8.3=33.3),PF0139113=Collagen=FE(20.3=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:
CCGGGCAGCAATGGTGAC
R:
CGGCTTCCCTTCAGGCCC
Band lengths:
84-147
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