HsaEX6055807 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48579197-48579515:-
Coord C1 exon
chr3:48579480-48579515
Coord A exon
chr3:48579369-48579394
Coord C2 exon
chr3:48579197-48579277
Length
26 bp
Sequences
Splice sites
3' ss Seq
TTCCCTCCAGGGGGACCCAGGTG
3' ss Score
-1.78
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
Exon sequences
Seq C1 exon
GGCATTGAAGGGTTTCGGGGACCCCCAGGCCCACAG
Seq A exon
GTGTCCGAGGCCCAGCAGGAGAAAAG
Seq C2 exon
GGTGACCGGGGTCCCCCTGGGCTGGATGGCCGGAGCGGACTGGATGGGAAACCAGGAGCCGCTGGGCCCTCTGGGCCGAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'74-93,'74-92,75-93
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(12.0=100)
A:
PF0139113=Collagen=FE(12.0=100),PF0139113=Collagen=PU(9.1=66.7)
C2:
PF0139113=Collagen=PD(6.5=22.2),PF0139113=Collagen=FE(29.5=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATTGAAGGGTTTCGGGGAC
R:
CGGCTCCTGGTTTCCCATC
Band lengths:
96-122
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains