Special

HsaEX6055813 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48613955-48614352:-
Coord C1 exon
chr3:48614317-48614352
Coord A exon
chr3:48614109-48614204
Coord C2 exon
chr3:48613955-48613990
Length
96 bp
Sequences
Splice sites
3' ss Seq
GCTGGCTGCATCCTTCACAGGGT
3' ss Score
6.84
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GGAGAGAAAGGAGATTCAGGCGCCTCTGGGAGAGAA
Seq A exon
GGTCGTGATGGCCCCAAGGGTGAGCGTGGAGCTCCTGGTATCCTTGGACCCCAGGGGCCTCCAGGCCTCCCAGGGCCAGTGGGCCCTCCTGGCCAG
Seq C2 exon
GGTTTTCCTGGTGTCCCAGGAGGCACGGGCCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'67-70,'67-69,68-70=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(13.4=100),PF0139113=Collagen=FE(17.7=100)
A:
PF0139113=Collagen=FE(34.1=100),PF0139113=Collagen=PU(34.4=68.8)
C2:
PF0139113=Collagen=PD(7.3=50.0),PF0139113=Collagen=FE(17.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


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:
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