HsaEX6055825 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48573021-48573348:-
Coord C1 exon
chr3:48573316-48573348
Coord A exon
chr3:48573174-48573236
Coord C2 exon
chr3:48573021-48573056
Length
63 bp
Sequences
Splice sites
3' ss Seq
TGAACTTTCTCTTCCTCCAGGGC
3' ss Score
11.45
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GGGGAGCCTGGAGAGACAGGACCTCCAGGACGG
Seq A exon
GGCCTGACTGGACCTACTGGAGCTGTGGGACTTCCTGGACCCCCCGGCCCTTCAGGCCTTGTG
Seq C2 exon
GGTCCACAGGGGTCTCCAGGTTTGCCTGGACAAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'104-125,'104-124,105-125=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(14.5=100),PF0139113=Collagen=FE(13.0=100)
A:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(26.0=100)
C2:
PF0139113=Collagen=FE(14.7=100),PF0139113=Collagen=PU(10.0=66.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGAGAGACAGGACCTCCAG
R:
GGCAAACCTGGAGACCCCT
Band lengths:
52-115
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains