Special

HsaEX0016651 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48617733-48618359:-
Coord C1 exon
chr3:48618315-48618359
Coord A exon
chr3:48618014-48618085
Coord C2 exon
chr3:48617733-48617777
Length
72 bp
Sequences
Splice sites
3' ss Seq
AGGCCAGCTGCTCTTCTTAGGGG
3' ss Score
2.15
5' ss Seq
AATGTGAGT
5' ss Score
7.8
Exon sequences
Seq C1 exon
GGTGACCCGGGTTTGCCTGGAAAAGCAGGCGAGCGTGGCCTTCGG
Seq A exon
GGGGCACCTGGAGTTCGGGGGCCTGTGGGTGAAAAGGGAGACCAGGGAGATCCTGGAGAGGATGGACGAAAT
Seq C2 exon
GGCAGCCCTGGATCATCTGGACCCAAGGGTGACCGTGGGGAGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'54-57,'54-56,55-57
Average complexity
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(20.0=100),PF0139113=Collagen=PU(16.2=73.3)
A:
PF0139113=Collagen=PD(8.6=25.0),PF0139113=Collagen=FE(33.8=100)
C2:
PF0139113=Collagen=PU(15.2=93.3)


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:
GGTGACCCGGGTTTGCCT
R:
CTCCCCACGGTCACCCTT
Band lengths:
87-159
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development