Special

HsaEX6055810 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48615754-48616387:-
Coord C1 exon
chr3:48616352-48616387
Coord A exon
chr3:48615886-48615948
Coord C2 exon
chr3:48615754-48615798
Length
63 bp
Sequences
Splice sites
3' ss Seq
TTAACAAAGACTTTTTCCAGGGG
3' ss Score
1.46
5' ss Seq
CCGGTGAGA
5' ss Score
8.72
Exon sequences
Seq C1 exon
GGTGCTGCAGGCAAAGCTGGGGACCCAGGGAGAGAC
Seq A exon
GGGCTTCCAGGCCTCCGTGGAGAACAGGGCCTCCCTGGCCCCTCTGGTCCCCCTGGATTACCG
Seq C2 exon
GGAAAGCCAGGCGAGGATGGCAAACCTGGCCTGAATGGAAAAAAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'63-66,'63-65,64-66=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(13.8=100),PF0139113=Collagen=FE(13.4=100)
A:
PF0139113=Collagen=FE(22.7=100),PF0139113=Collagen=PU(19.8=85.7)
C2:
PF0139113=Collagen=FE(15.9=100),PF0139113=Collagen=FE(15.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGCAGGCAAAGCTGGG
R:
TTTTTCCATTCAGGCCAGGTT
Band lengths:
76-139
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains