HsaEX6055791 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48582609-48583171:-
Coord C1 exon
chr3:48583127-48583171
Coord A exon
chr3:48583013-48583048
Coord C2 exon
chr3:48582609-48582653
Length
36 bp
Sequences
Splice sites
3' ss Seq
GACCTCTTCTTTTCCATCAGGGC
3' ss Score
9.82
5' ss Seq
CGGGTAAAC
5' ss Score
4.58
Exon sequences
Seq C1 exon
GGTGACCGGGGCTTTCCAGGGCCCCTGGGTGAGGCTGGAGAGAAG
Seq A exon
GGCGAACGTGGACCCCCAGGCCCAGCGGGATCCCGG
Seq C2 exon
GGGCTGCCAGGGGTTGCTGGACGTCCTGGAGCCAAGGGTCCTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'54-67,'54-65,55-67=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(25.0=100),PF0139113=Collagen=PU(8.3=33.3)
A:
PF0139113=Collagen=PD(16.1=75.0),PF0139113=Collagen=FE(18.3=100)
C2:
PF0139113=Collagen=FE(23.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
GTGACCGGGGCTTTCCAG
R:
TTCAGGACCCTTGGCTCCAG
Band lengths:
89-125
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains