HsaEX0016654 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48576400-48576771:-
Coord C1 exon
chr3:48576676-48576771
Coord A exon
chr3:48576522-48576557
Coord C2 exon
chr3:48576400-48576435
Length
36 bp
Sequences
Splice sites
3' ss Seq
TGTGTTCTGCCGTATCTCAGGGT
3' ss Score
9.13
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GGTCGTGATGGCCCCAAGGGTGAGCGTGGAGCTCCTGGTATCCTTGGACCCCAGGGGCCTCCAGGCCTCCCAGGGCCAGTGGGCCCTCCTGGCCAG
Seq A exon
GGTTTTCCTGGTGTCCCAGGAGGCACGGGCCCCAAG
Seq C2 exon
GGTGACCGTGGGGAGACTGGATCCAAAGGGGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'83-105,'83-104,84-105=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=FE(34.1=100),PF0139113=Collagen=PU(34.4=68.8)
A:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(17.2=100)
C2:
PF0139113=Collagen=FE(17.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGATGGCCCCAAGGGTGAG
R:
TCCCCTTTGGATCCAGTCTCC
Band lengths:
123-159
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