HsaEX6055790 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48583013-48583428:-
Coord C1 exon
chr3:48583393-48583428
Coord A exon
chr3:48583127-48583171
Coord C2 exon
chr3:48583013-48583048
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTCTCACCCTCTCTCTTCAGGGT
3' ss Score
12.59
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
GGCCCACGGGGACCTCCTGGAGCTATTGGCCCCAAA
Seq A exon
GGTGACCGGGGCTTTCCAGGGCCCCTGGGTGAGGCTGGAGAGAAG
Seq C2 exon
GGCGAACGTGGACCCCCAGGCCCAGCGGGATCCCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'53-65,'53-64,54-65=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(19.6=100)
A:
PF0139113=Collagen=FE(25.0=100),PF0139113=Collagen=PU(8.3=33.3)
C2:
PF0139113=Collagen=PD(16.1=75.0),PF0139113=Collagen=FE(18.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
GGGACCTCCTGGAGCTATTGG
R:
CCTGGGGGTCCACGTTCG
Band lengths:
48-93
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains