HsaEX0016660 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48572671-48573056:-
Coord C1 exon
chr3:48573021-48573056
Coord A exon
chr3:48572862-48572942
Coord C2 exon
chr3:48572671-48572739
Length
81 bp
Sequences
Splice sites
3' ss Seq
ACAGAGCTCTTCCCTCTCAGGGG
3' ss Score
5.65
5' ss Seq
CCAGTATGT
5' ss Score
5.8
Exon sequences
Seq C1 exon
GGTCCACAGGGGTCTCCAGGTTTGCCTGGACAAGTG
Seq A exon
GGGGAGACAGGGAAGCCGGGAGCCCCAGGTCGAGATGGTGCCAGTGGAAAAGATGGAGACAGAGGGAGCCCTGGTGTGCCA
Seq C2 exon
GGGTCACCAGGTCTGCCTGGCCCTGTCGGACCTAAAGGAGAACCTGGCCCCACGGGGGCCCCTGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'106-129,'106-128,107-129
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(14.7=100),PF0139113=Collagen=PU(10.0=66.7)
A:
PF0139113=Collagen=FE(33.8=100),PF0139113=Collagen=PU(30.8=74.1)
C2:
PF0139113=Collagen=FE(33.8=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCACAGGGGTCTCCAGGTTT
R:
GTGGGGCCAGGTTCTCCTTTA
Band lengths:
87-168
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development