Special

HsaEX0016653 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48614317-48615798:-
Coord C1 exon
chr3:48615754-48615798
Coord A exon
chr3:48614425-48614460
Coord C2 exon
chr3:48614317-48614352
Length
36 bp
Sequences
Splice sites
3' ss Seq
TGTGAGTCCTCTGCCCACAGGGA
3' ss Score
8.8
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
Exon sequences
Seq C1 exon
GGAAAGCCAGGCGAGGATGGCAAACCTGGCCTGAATGGAAAAAAC
Seq A exon
GGAGAACCTGGGGACCCTGGAGAAGACGGGAGGAAG
Seq C2 exon
GGAGAGAAAGGAGATTCAGGCGCCTCTGGGAGAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'65-68,'65-67,66-68
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(15.9=100),PF0139113=Collagen=FE(15.4=100)
A:
PF0139113=Collagen=FE(13.4=100),PF0139113=Collagen=PU(12.9=66.7)
C2:
PF0139113=Collagen=FE(13.4=100),PF0139113=Collagen=FE(17.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAAGCCAGGCGAGGATGG
R:
TTCTCTCCCAGAGGCGCC
Band lengths:
80-116
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