HsaEX6055809 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48578453-48579277:-
Coord C1 exon
chr3:48579197-48579277
Coord A exon
chr3:48578919-48578954
Coord C2 exon
chr3:48578453-48578515
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-'76-96,'76-94,77-96
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(6.5=22.2),PF0139113=Collagen=FE(29.5=100)
A:
PF0139113=Collagen=FE(12.5=100)
C2:
PF0139113=Collagen=FE(22.7=100),PF0139113=Collagen=PU(19.8=85.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
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