HsaEX6055801 @ hg19
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48618014-48618590:-
Coord C1 exon
chr3:48618555-48618590
Coord A exon
chr3:48618315-48618359
Coord C2 exon
chr3:48618014-48618085
Length
45 bp
Sequences
Splice sites
3' ss Seq
ACTTTTCTCTCTATCACCAGGGT
3' ss Score
10.98
5' ss Seq
CGGGTGAGT
5' ss Score
9.89
Exon sequences
Seq C1 exon
GGTGAAGTTGGAGAGAAAGGTGACGAGGGTCCTCCG
Seq A exon
GGTGACCCGGGTTTGCCTGGAAAAGCAGGCGAGCGTGGCCTTCGG
Seq C2 exon
GGGGCACCTGGAGTTCGGGGGCCTGTGGGTGAAAAGGGAGACCAGGGAGATCCTGGAGAGGATGGACGAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'53-56,'53-55,54-56=AN
Average complexity
A_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(15.7=100)
A:
PF0139113=Collagen=FE(20.0=100),PF0139113=Collagen=PU(16.2=73.3)
C2:
PF0139113=Collagen=PD(8.6=25.0),PF0139113=Collagen=FE(33.8=100)
Main Skipping Isoform:
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:
GGTGAAGTTGGAGAGAAAGGTGA
R:
ATTTCGTCCATCCTCTCCAGG
Band lengths:
108-153
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)