Special

HsaEX6055806 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48616802-48617101:-
Coord C1 exon
chr3:48617021-48617101
Coord A exon
chr3:48616913-48616948
Coord C2 exon
chr3:48616802-48616837
Length
36 bp
Sequences
Splice sites
3' ss Seq
TCTTCCTCCCCTATCCTCAGGGC
3' ss Score
11.23
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GGAGAGCCTGGGGACCGCGGACAAGAGGGTCCTCGAGGGCCCAAGGGTGATCCTGGCCTCCCTGGAGCCCCTGGGGAAAGG
Seq A exon
GGCATTGAAGGGTTTCGGGGACCCCCAGGCCCACAG
Seq C2 exon
GGGGACCCAGGTGTCCGAGGCCCAGCAGGAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'59-62,'59-61,60-62=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(28.3=100)
A:
PF0139113=Collagen=FE(17.7=100),PF0139113=Collagen=PU(10.0=66.7)
C2:
PF0139113=Collagen=FE(12.0=100),PF0139113=Collagen=PU(9.1=66.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCGCGGACAAGAGGGTC
R:
CTTTTCTCCTGCTGGGCCTC
Band lengths:
105-141
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains