HsaEX6055821 @ hg19
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48611288-48611983:-
Coord C1 exon
chr3:48611921-48611983
Coord A exon
chr3:48611695-48611739
Coord C2 exon
chr3:48611288-48611323
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTTAAACCTATTCTCTGCAGGGT
3' ss Score
7.02
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GGTGTGCCAGGCATCAAAGGAGACCGGGGAGAGCCTGGACCGAGGGGTCAGGACGGCAACCCG
Seq A exon
GGTCTACCAGGAGAGCGTGGTATGGCTGGGCCTGAAGGGAAGCCG
Seq C2 exon
GGTCTGCAGGGTCCAAGAGGCCCCCCTGGCCCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'79-82,'79-81,80-82=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(33.3=100),PF0139113=Collagen=PU(2.9=9.5)
A:
PF0139113=Collagen=PD(9.8=40.0),PF0139113=Collagen=PU(21.2=93.3)
C2:
PF0139113=Collagen=FE(15.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTGCCAGGCATCAAAGGAG
R:
GGCCTCTTGGACCCTGCAG
Band lengths:
84-129
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)