HsaEX6055760 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48593356-48594548:-
Coord C1 exon
chr3:48594368-48594548
Coord A exon
chr3:48593537-48593560
Coord C2 exon
chr3:48593356-48593449
Length
24 bp
Sequences
Splice sites
3' ss Seq
ACCATGTCTTCCTGCCCCAGCTG
3' ss Score
7.97
5' ss Seq
AAGGTGATC
5' ss Score
4.41
Exon sequences
Seq C1 exon
TGACCTGCACGCGCCTTTACGCCGCTGACATTGTGTTCTTACTGGATGGCTCCTCATCCATTGGCCGCAGCAATTTCCGCGAGGTCCGCAGCTTTCTCGAAGGGCTGGTGCTGCCTTTCTCTGGAGCAGCCAGTGCACAGGGTGTGCGCTTTGCCACAGTGCAGTACAGCGATGACCCACG
Seq A exon
CTGGCCCGACCTGGTGTCCCCAAG
Seq C2 exon
GTCTGCATCCTGATCACAGACGGGAAGTCCCAGGACCTGGTGGACACAGCTGCCCAAAGGCTGAAGGGGCAGGGGGTCAAGCTATTTGCTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'2-7,'2-6,3-7
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
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 Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTGCAGTACAGCGATGACC
R:
CAAATAGCTTGACCCCCTGCC
Band lengths:
113-137
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains