Special

HsaEX6055809 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48615886-48616710:-
Coord C1 exon
chr3:48616630-48616710
Coord A exon
chr3:48616352-48616387
Coord C2 exon
chr3:48615886-48615948
Length
36 bp
Sequences
Splice sites
3' ss Seq
GACTTTGAGTCTCTCCTCAGGGT
3' ss Score
6.09
5' ss Seq
GACGTAAGT
5' ss Score
10.93
Exon sequences
Seq C1 exon
GGTGACCGGGGTCCCCCTGGGCTGGATGGCCGGAGCGGACTGGATGGGAAACCAGGAGCCGCTGGGCCCTCTGGGCCGAAT
Seq A exon
GGTGCTGCAGGCAAAGCTGGGGACCCAGGGAGAGAC
Seq C2 exon
GGGCTTCCAGGCCTCCGTGGAGAACAGGGCCTCCCTGGCCCCTCTGGTCCCCCTGGATTACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'62-65,'62-64,63-65=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=PD(8.1=18.5),PF0139113=Collagen=FE(32.5=100),PF0139113=Collagen=PU(2.4=7.4)
A:
PF0139113=Collagen=FE(13.8=100),PF0139113=Collagen=FE(13.4=100)
C2:
PF0139113=Collagen=FE(22.7=100),PF0139113=Collagen=PU(19.8=85.7)


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:
GTCCCCCTGGGCTGGATG
R:
GACCAGAGGGGCCAGGGA
Band lengths:
120-156
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains