HsaEX6055831 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48569880-48570334:-
Coord C1 exon
chr3:48570275-48570334
Coord A exon
chr3:48570134-48570178
Coord C2 exon
chr3:48569880-48569915
Length
45 bp
Sequences
Splice sites
3' ss Seq
AACCTAATGTCACCATCCAGGGT
3' ss Score
5.21
5' ss Seq
ACGGTGGGT
5' ss Score
8.27
Exon sequences
Seq C1 exon
GGAGACCCTGGAGTAGGGCTGCCTGGGCCCCGAGGCGAGCGTGGGGAGCCAGGCATCCGG
Seq A exon
GGTGAAGATGGCCGCCCCGGCCAGGAGGGACCCCGAGGACTCACG
Seq C2 exon
GGGCCCCCTGGCAGCAGGGGAGAGCGTGGGGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270_MULTIEX2-3/14=2-4
Average complexity
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=PD(6.8=20.0),PF0139113=Collagen=PU(23.7=70.0)
A:
PF0139113=Collagen=FE(23.7=100)
C2:
PF0139113=Collagen=FE(18.6=100)
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:
CTGGAGTAGGGCTGCCTGG
R:
CTTCTCCCCACGCTCTCCC
Band lengths:
89-134
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains