HsaEX6055760 @ hg19
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48630789-48631981:-
Coord C1 exon
chr3:48631801-48631981
Coord A exon
chr3:48630970-48631129
Coord C2 exon
chr3:48630789-48630882
Length
160 bp
Sequences
Splice sites
3' ss Seq
CCACCCCTACCCTCCAACAGGAC
3' ss Score
9.2
5' ss Seq
AAGGTGATC
5' ss Score
4.41
Exon sequences
Seq C1 exon
TGACCTGCACGCGCCTTTACGCCGCTGACATTGTGTTCTTACTGGATGGCTCCTCATCCATTGGCCGCAGCAATTTCCGCGAGGTCCGCAGCTTTCTCGAAGGGCTGGTGCTGCCTTTCTCTGGAGCAGCCAGTGCACAGGGTGTGCGCTTTGCCACAGTGCAGTACAGCGATGACCCACG
Seq A exon
GACAGAGTTCGGCCTGGATGCACTTGGCTCTGGGGGTGATGTGATCCGCGCCATCCGTGAGCTTAGCTACAAGGGGGGCAACACTCGCACAGGGGCTGCAATTCTCCATGTGGCTGACCATGTCTTCCTGCCCCAGCTGGCCCGACCTGGTGTCCCCAAG
Seq C2 exon
GTCTGCATCCTGATCACAGACGGGAAGTCCCAGGACCTGGTGGACACAGCTGCCCAAAGGCTGAAGGGGCAGGGGGTCAAGCTATTTGCTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'1-2,'1-1,2-2=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=PU(29.5=83.6)
A:
PF0009223=VWA=FE(30.6=100)
C2:
PF0009223=VWA=FE(17.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTACGCCGCTGACATTGTGTT
R:
CAAATAGCTTGACCCCCTGCC
Band lengths:
253-413
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)