Special

HsaEX6055798 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48618693-48619065:-
Coord C1 exon
chr3:48619006-48619065
Coord A exon
chr3:48618881-48618916
Coord C2 exon
chr3:48618693-48618773
Length
36 bp
Sequences
Splice sites
3' ss Seq
CCCCCTTCTGTCCCCTTCAGGGT
3' ss Score
12.89
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
GGCCCACCCGGCTTGGTTCTTCCTGGAGACCCTGGCCCCAAGGGAGACCCTGGAGACCGG
Seq A exon
GGTCCCATTGGCCTTACTGGCAGAGCAGGACCCCCA
Seq C2 exon
GGTGACTCAGGGCCTCCTGGAGAGAAGGGAGACCCTGGGCGGCCTGGCCCCCCAGGACCTGTTGGCCCCCGAGGACGAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'50-53,'50-52,51-53=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:
NO
A:
PF0139113=Collagen=PU(11.4=66.7)
C2:
PF0139113=Collagen=FE(37.1=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:
TGGTTCTTCCTGGAGACCCTG
R:
GCCAACAGGTCCTGGGGG
Band lengths:
113-149
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains