HsaEX6055838 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48565410-48566315:-
Coord C1 exon
chr3:48566267-48566315
Coord A exon
chr3:48565636-48565668
Coord C2 exon
chr3:48565410-48565496
Length
33 bp
Sequences
Splice sites
3' ss Seq
TCCCTCTCTGCCCCCTCTAGCCT
3' ss Score
8.19
5' ss Seq
CACGTGAGT
5' ss Score
9.3
Exon sequences
Seq C1 exon
GAGGATGACATCCGGGGCTTTGTGCGCCAAGAGATGAGTCAGCACTGTG
Seq A exon
CCTGCCAGGGCCAGTTCATCGCATCTGGATCAC
Seq C2 exon
GACCCCTCCCTAGTTATGCTGCAGACACTGCCGGCTCCCAGCTCCATGCTGTGCCTGTGCTCCGCGTCTCTCATGCAGAGGAGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'145-169,'145-167,146-169
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.706 A=0.583 C2=0.967
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(0.1=0.0)
A:
NO
C2:
NO
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:
GATGACATCCGGGGCTTTGTG
R:
TCTGCATGAGAGACGCGGAG
Band lengths:
125-158
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains