Special

HsaEX0016656 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48611921-48612298:-
Coord C1 exon
chr3:48612230-48612298
Coord A exon
chr3:48612110-48612154
Coord C2 exon
chr3:48611921-48611983
Length
45 bp
Sequences
Splice sites
3' ss Seq
TTGACATCTCATCCCCACAGGGG
3' ss Score
10.4
5' ss Seq
AGGGTGAGG
5' ss Score
7.13
Exon sequences
Seq C1 exon
GTGTCTGTGGATGAGCCAGGTCCTGGACTCTCTGGAGAACAGGGACCCCCTGGACTCAAGGGTGCTAAG
Seq A exon
GGGGAGCCGGGCAGCAATGGTGACCAAGGTCCCAAAGGAGACAGG
Seq C2 exon
GGTGTGCCAGGCATCAAAGGAGACCGGGGAGAGCCTGGACCGAGGGGTCAGGACGGCAACCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'77-80,'77-79,78-80
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=PD(10.3=30.4),PF0139113=Collagen=PU(27.9=73.9)
A:
PF0139113=Collagen=FE(23.3=100)
C2:
PF0139113=Collagen=FE(33.3=100),PF0139113=Collagen=PU(2.9=9.5)


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)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGATGAGCCAGGTCCTG
R:
GGGTTGCCGTCCTGACCC
Band lengths:
124-169
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