HsaEX6055829 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48570465-48570968:-
Coord C1 exon
chr3:48570861-48570968
Coord A exon
chr3:48570639-48570710
Coord C2 exon
chr3:48570465-48570500
Length
72 bp
Sequences
Splice sites
3' ss Seq
TTGCCCCATTTTTCTGGTAGGGT
3' ss Score
7.63
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
GGAGATCTGGGCCTCCCTGGCCTGCCCGGTGCTCCTGGTGTTGTTGGGTTCCCGGGTCAGACAGGCCCTCGAGGAGAGATGGGTCAGCCAGGCCCTAGTGGAGAGCGG
Seq A exon
GGTCTGGCAGGCCCCCCAGGGAGAGAAGGAATCCCAGGACCCCTGGGGCCACCTGGACCACCGGGGTCAGTG
Seq C2 exon
GGACCACCTGGGGCCTCTGGACTCAAAGGAGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'119-142,'119-141,121-142=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(60.3=100),PF0139113=Collagen=PU(28.8=47.2)
A:
PF0139113=Collagen=PD(8.6=20.8),PF0139113=Collagen=FE(39.0=100)
C2:
PF0139113=Collagen=FE(18.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGATCTGGGCCTCCCTG
R:
TTGTCTCCTTTGAGTCCAGAGG
Band lengths:
143-215
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains