HsaEX6055810 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48578321-48578954:-
Coord C1 exon
chr3:48578919-48578954
Coord A exon
chr3:48578453-48578515
Coord C2 exon
chr3:48578321-48578365
Length
63 bp
Sequences
Splice sites
3' ss Seq
TTAACAAAGACTTTTTCCAGGGG
3' ss Score
1.46
5' ss Seq
CCGGTGAGA
5' ss Score
8.72
Exon sequences
Seq C1 exon
GGTGCTGCAGGCAAAGCTGGGGACCCAGGGAGAGAC
Seq A exon
GGGCTTCCAGGCCTCCGTGGAGAACAGGGCCTCCCTGGCCCCTCTGGTCCCCCTGGATTACCG
Seq C2 exon
GGAAAGCCAGGCGAGGATGGCAAACCTGGCCTGAATGGAAAAAAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'77-98,'77-96,78-98=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(12.5=100)
A:
PF0139113=Collagen=FE(22.7=100),PF0139113=Collagen=PU(19.8=85.7)
C2:
PF0139113=Collagen=FE(15.9=100),PF0139113=Collagen=FE(15.4=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:
GCTGCAGGCAAAGCTGGG
R:
TTTTTCCATTCAGGCCAGGTT
Band lengths:
76-139
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains