HsaEX6055788 @ hg19
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48620826-48621213:-
Coord C1 exon
chr3:48621151-48621213
Coord A exon
chr3:48620989-48621048
Coord C2 exon
chr3:48620826-48620861
Length
60 bp
Sequences
Splice sites
3' ss Seq
CCCGTGTGTTTCTCCTTCAGGGT
3' ss Score
12.91
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GGTCTTCCCGGAAGCCCTGGACCCCAAGGCCCCGTTGGCCCCCCTGGAAAGAAAGGAGAAAAA
Seq A exon
GGTGACTCTGAGGATGGAGCTCCAGGCCTCCCAGGACAACCTGGGTCTCCGGGTGAGCAG
Seq C2 exon
GGCCCACGGGGACCTCCTGGAGCTATTGGCCCCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'39-42,'39-41,40-42=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(35.7=100)
A:
PF0139113=Collagen=PD(7.1=20.0),PF0139113=Collagen=PU(32.1=90.0)
C2:
PF0139113=Collagen=FE(19.6=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:
GGTCTTCCCGGAAGCCCT
R:
CCAATAGCTCCAGGAGGTCCC
Band lengths:
92-152
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)