Special

HsaEX6055802 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48617464-48618085:-
Coord C1 exon
chr3:48618014-48618085
Coord A exon
chr3:48617733-48617777
Coord C2 exon
chr3:48617464-48617490
Length
45 bp
Sequences
Splice sites
3' ss Seq
TGACCCCTGCCTTTCTGCAGGGC
3' ss Score
10.4
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GGGGCACCTGGAGTTCGGGGGCCTGTGGGTGAAAAGGGAGACCAGGGAGATCCTGGAGAGGATGGACGAAAT
Seq A exon
GGCAGCCCTGGATCATCTGGACCCAAGGGTGACCGTGGGGAGCCG
Seq C2 exon
GGTCCCCCAGGACCCCCGGGACGGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'55-58,'55-57,56-58=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=PD(8.6=25.0),PF0139113=Collagen=FE(33.8=100)
A:
PF0139113=Collagen=PU(15.2=93.3)
C2:
PF0139113=Collagen=FE(11.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains