HsaEX0016667 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48571243-48572045:-
Coord C1 exon
chr3:48572001-48572045
Coord A exon
chr3:48571486-48571645
Coord C2 exon
chr3:48571243-48571278
Length
160 bp
Sequences
Splice sites
3' ss Seq
CCCCTGCCCCTGGCTGCCAGCGT
3' ss Score
5.49
5' ss Seq
ATGGTAGTA
5' ss Score
0.55
Exon sequences
Seq C1 exon
GGTGAAGCTGGCCGTGCAGGGGAGCCCGGAGACCCTGGGGAAGAT
Seq A exon
CGTTCAGCCTGTGGCCATGCCTGCTCTACCCGGGAGTGGACGTGTTGGGGTTCCCCTCTGAGCGCCCGTGTGTCCGCACTCACGTCTGTGGAGCCAGATGTCTGCACTCGCGTGTGGGCTCCCTGTGCCTGTGCCATGCCTGAACTCCCACCTGTCTATG
Seq C2 exon
GGTCAGAAAGGGGCTCCAGGACCCAAAGGTTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. ATG)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.235 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(24.1=100)
A:
PF0139113=Collagen=PD(6.7=7.4)
C2:
PF0139113=Collagen=FE(19.0=100)
Main Inclusion Isoform:
ENST00000328333fB1762
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development