HsaEX6055824 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48573174-48573557:-
Coord C1 exon
chr3:48573513-48573557
Coord A exon
chr3:48573316-48573348
Coord C2 exon
chr3:48573174-48573236
Length
33 bp
Sequences
Splice sites
3' ss Seq
AGTCTCTGGGTTGTTTGCAGGGG
3' ss Score
6.67
5' ss Seq
CGGGTGAGT
5' ss Score
9.89
Exon sequences
Seq C1 exon
GGTCTTGCTGGCCCTGCAGGACCCCAAGGACCTTCTGGCCTGAAG
Seq A exon
GGGGAGCCTGGAGAGACAGGACCTCCAGGACGG
Seq C2 exon
GGCCTGACTGGACCTACTGGAGCTGTGGGACTTCCTGGACCCCCCGGCCCTTCAGGCCTTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'102-124,'102-123,104-124=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(20.3=100),PF0139113=Collagen=PU(6.5=33.3)
A:
PF0139113=Collagen=FE(14.5=100),PF0139113=Collagen=FE(13.0=100)
C2:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(26.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCTTGCTGGCCCTGCAG
R:
GGGGGTCCAGGAAGTCCC
Band lengths:
88-121
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains