Special

HsaEX6055793 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48619756-48620086:-
Coord C1 exon
chr3:48620042-48620086
Coord A exon
chr3:48619911-48619946
Coord C2 exon
chr3:48619756-48619791
Length
36 bp
Sequences
Splice sites
3' ss Seq
CACACTTTCTCTACATTCAGGGG
3' ss Score
8.75
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
Exon sequences
Seq C1 exon
GGGCTGCCAGGGGTTGCTGGACGTCCTGGAGCCAAGGGTCCTGAA
Seq A exon
GGGCCACCAGGACCCACTGGCCGCCAAGGAGAGAAG
Seq C2 exon
GGGGAGCCTGGTCGCCCTGGGGACCCTGCAGTGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'44-47,'44-46,45-47=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(23.3=100)
A:
PF0139113=Collagen=FE(18.3=100)
C2:
PF0139113=Collagen=FE(18.3=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:
CAGGGGTTGCTGGACGTC
R:
CCACTGCAGGGTCCCCAG
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