HsaEX6055781 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48584910-48585619:-
Coord C1 exon
chr3:48585557-48585619
Coord A exon
chr3:48585036-48585116
Coord C2 exon
chr3:48584910-48584945
Length
81 bp
Sequences
Splice sites
3' ss Seq
TGACCTCTTCACCTCCTCAGGGC
3' ss Score
9.45
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GGCAGGACCGGTGCTCCCGGCCCCCAGGGGCCCCCTGGAAGTGCCACTGCCAAGGGCGAGAGG
Seq A exon
GGCTTCCCTGGAGCAGATGGGCGTCCAGGCAGCCCTGGCCGCGCCGGGAATCCTGGGACCCCTGGAGCCCCTGGCCTAAAG
Seq C2 exon
GGCTCTCCAGGGTTGCCTGGCCCTCGTGGGGACCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'40-54,'40-53,41-54=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(33.3=100),PF0139113=Collagen=PU(3.0=9.5)
A:
PF0139113=Collagen=PD(18.3=40.7),PF0139113=Collagen=FE(39.4=100)
C2:
PF0139113=Collagen=FE(16.7=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:
CCCCCTGGAAGTGCCACT
R:
AGGCAACCCTGGAGAGCC
Band lengths:
51-132
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains