HsaEX6055811 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48576992-48578515:-
Coord C1 exon
chr3:48578453-48578515
Coord A exon
chr3:48578321-48578365
Coord C2 exon
chr3:48576992-48577027
Length
45 bp
Sequences
Splice sites
3' ss Seq
CCAGTGATCTGTTCCCACAGGGA
3' ss Score
9.61
5' ss Seq
AACGTGAGT
5' ss Score
9.54
Exon sequences
Seq C1 exon
GGGCTTCCAGGCCTCCGTGGAGAACAGGGCCTCCCTGGCCCCTCTGGTCCCCCTGGATTACCG
Seq A exon
GGAAAGCCAGGCGAGGATGGCAAACCTGGCCTGAATGGAAAAAAC
Seq C2 exon
GGAGAACCTGGGGACCCTGGAGAAGACGGGAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'78-99,'78-98,79-99
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(22.7=100),PF0139113=Collagen=PU(19.8=85.7)
A:
PF0139113=Collagen=FE(15.9=100),PF0139113=Collagen=FE(15.4=100)
C2:
PF0139113=Collagen=PD(3.4=25.0),PF0139113=Collagen=FE(12.1=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:
CAGGCCTCCGTGGAGAACAG
R:
CTTCCTCCCGTCTTCTCCAGG
Band lengths:
92-137
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains