Special

HsaEX0016658 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48611123-48611739:-
Coord C1 exon
chr3:48611695-48611739
Coord A exon
chr3:48611288-48611323
Coord C2 exon
chr3:48611123-48611158
Length
36 bp
Sequences
Splice sites
3' ss Seq
TCAGTGCCCTCTCTATGTAGGGT
3' ss Score
9.72
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GGTCTACCAGGAGAGCGTGGTATGGCTGGGCCTGAAGGGAAGCCG
Seq A exon
GGTCTGCAGGGTCCAAGAGGCCCCCCTGGCCCAGTG
Seq C2 exon
GGTGGTCATGGAGACCCTGGACCACCTGGTGCCCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'80-83,'80-82,81-83
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=PD(9.8=40.0),PF0139113=Collagen=PU(21.2=93.3)
A:
PF0139113=Collagen=FE(15.9=100)
C2:
PF0139113=Collagen=FE(15.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCTACCAGGAGAGCGTG
R:
AGGTGGTCCAGGGTCTCCAT
Band lengths:
72-108
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