Special

HsaEX6055800 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48618315-48618773:-
Coord C1 exon
chr3:48618693-48618773
Coord A exon
chr3:48618555-48618590
Coord C2 exon
chr3:48618315-48618359
Length
36 bp
Sequences
Splice sites
3' ss Seq
CTGACTCTCATGTTTCACAGGGT
3' ss Score
9.2
5' ss Seq
CCGGTGAGA
5' ss Score
8.72
Exon sequences
Seq C1 exon
GGTGACTCAGGGCCTCCTGGAGAGAAGGGAGACCCTGGGCGGCCTGGCCCCCCAGGACCTGTTGGCCCCCGAGGACGAGAT
Seq A exon
GGTGAAGTTGGAGAGAAAGGTGACGAGGGTCCTCCG
Seq C2 exon
GGTGACCCGGGTTTGCCTGGAAAAGCAGGCGAGCGTGGCCTTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'52-55,'52-54,53-55=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(37.1=100)
A:
PF0139113=Collagen=FE(15.7=100)
C2:
PF0139113=Collagen=FE(20.0=100),PF0139113=Collagen=PU(16.2=73.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGACTCAGGGCCTCCT
R:
CGCTCGCCTGCTTTTCCAG
Band lengths:
116-152
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains