Special

HsaEX6055799 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48618555-48618916:-
Coord C1 exon
chr3:48618881-48618916
Coord A exon
chr3:48618693-48618773
Coord C2 exon
chr3:48618555-48618590
Length
81 bp
Sequences
Splice sites
3' ss Seq
CCCTCTTGCCTCCTCCACAGGGT
3' ss Score
11.31
5' ss Seq
GATGTAAGA
5' ss Score
5.46
Exon sequences
Seq C1 exon
GGTCCCATTGGCCTTACTGGCAGAGCAGGACCCCCA
Seq A exon
GGTGACTCAGGGCCTCCTGGAGAGAAGGGAGACCCTGGGCGGCCTGGCCCCCCAGGACCTGTTGGCCCCCGAGGACGAGAT
Seq C2 exon
GGTGAAGTTGGAGAGAAAGGTGACGAGGGTCCTCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'51-54,'51-53,52-54=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=PU(11.4=66.7)
A:
PF0139113=Collagen=FE(37.1=100)
C2:
PF0139113=Collagen=FE(15.7=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)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCCCATTGGCCTTACTGG
R:
GGAGGACCCTCGTCACCTTTC
Band lengths:
71-152
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains