HsaEX6055815 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48575867-48576435:-
Coord C1 exon
chr3:48576400-48576435
Coord A exon
chr3:48576249-48576296
Coord C2 exon
chr3:48575867-48575902
Length
48 bp
Sequences
Splice sites
3' ss Seq
GTTTGTCTTCATCTCTCCAGGGC
3' ss Score
9.91
5' ss Seq
CCGGTGAGC
5' ss Score
8.69
Exon sequences
Seq C1 exon
GGTGACCGTGGGGAGACTGGATCCAAAGGGGAGCAG
Seq A exon
GGCCTCCCTGGAGAGCGTGGCCTGCGAGGAGAGCCTGGAAGTGTGCCG
Seq C2 exon
AATGTGGATCGGTTGCTGGAAACTGCTGGCATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'85-107,'85-106,86-107
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=FE(17.2=100)
A:
PF0139113=Collagen=FE(23.4=100)
C2:
PF0139113=Collagen=PD(0.1=0.0)
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:
GACCGTGGGGAGACTGGATC
R:
TTGATGCCAGCAGTTTCCAGC
Band lengths:
68-116
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains