Special

HsaEX6055838 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48602843-48603748:-
Coord C1 exon
chr3:48603700-48603748
Coord A exon
chr3:48603069-48603101
Coord C2 exon
chr3:48602843-48602929
Length
33 bp
Sequences
Splice sites
3' ss Seq
TCCCTCTCTGCCCCCTCTAGCCT
3' ss Score
8.19
5' ss Seq
CACGTGAGT
5' ss Score
9.3
Exon sequences
Seq C1 exon
GAGGATGACATCCGGGGCTTTGTGCGCCAAGAGATGAGTCAGCACTGTG
Seq A exon
CCTGCCAGGGCCAGTTCATCGCATCTGGATCAC
Seq C2 exon
GACCCCTCCCTAGTTATGCTGCAGACACTGCCGGCTCCCAGCTCCATGCTGTGCCTGTGCTCCGCGTCTCTCATGCAGAGGAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'122-125,'122-124,123-125=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.706 A=0.583 C2=0.967
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(0.1=0.0)
A:
NO
C2:
NO


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)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGACATCCGGGGCTTTGTG
R:
TCTGCATGAGAGACGCGGAG
Band lengths:
125-158
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains