HsaEX6055807 @ hg19
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48616630-48616948:-
Coord C1 exon
chr3:48616913-48616948
Coord A exon
chr3:48616802-48616837
Coord C2 exon
chr3:48616630-48616710
Length
36 bp
Sequences
Splice sites
3' ss Seq
TCTGACCCTGTTCCCTCCAGGGG
3' ss Score
10.1
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
GGCATTGAAGGGTTTCGGGGACCCCCAGGCCCACAG
Seq A exon
GGGGACCCAGGTGTCCGAGGCCCAGCAGGAGAAAAG
Seq C2 exon
GGTGACCGGGGTCCCCCTGGGCTGGATGGCCGGAGCGGACTGGATGGGAAACCAGGAGCCGCTGGGCCCTCTGGGCCGAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'60-63,'60-62,61-63=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(17.7=100),PF0139113=Collagen=PU(10.0=66.7)
A:
PF0139113=Collagen=FE(12.0=100),PF0139113=Collagen=PU(9.1=66.7)
C2:
PF0139113=Collagen=PD(8.1=18.5),PF0139113=Collagen=FE(32.5=100),PF0139113=Collagen=PU(2.4=7.4)
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:
GCATTGAAGGGTTTCGGGGAC
R:
CGGCTCCTGGTTTCCCATC
Band lengths:
96-132
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)