HsaEX0016662 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48571243-48572171:-
Coord C1 exon
chr3:48572127-48572171
Coord A exon
chr3:48572001-48572045
Coord C2 exon
chr3:48571243-48571278
Length
45 bp
Sequences
Splice sites
3' ss Seq
TCACCTGCCATTCTGTGCAGGGT
3' ss Score
9
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
GGAGCCAAAGGTGACCGAGGACTGCCAGGGCCGCGAGGCGAGAAG
Seq A exon
GGTGAAGCTGGCCGTGCAGGGGAGCCCGGAGACCCTGGGGAAGAT
Seq C2 exon
GGTCAGAAAGGGGCTCCAGGACCCAAAGGTTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'111-137,'111-134,113-137
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(24.1=100)
A:
PF0139113=Collagen=FE(24.1=100)
C2:
PF0139113=Collagen=FE(19.0=100)
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:
GAGCCAAAGGTGACCGAGGA
R:
GAAACCTTTGGGTCCTGGAGC
Band lengths:
77-122
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