HsaEX6055808 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48578919-48579404:-
Coord C1 exon
chr3:48579369-48579404
Coord A exon
chr3:48579197-48579277
Coord C2 exon
chr3:48578919-48578954
Length
81 bp
Sequences
Splice sites
3' ss Seq
TACCACTCTATTTTCCACAGGGT
3' ss Score
9.07
5' ss Seq
AATGTGAGT
5' ss Score
7.8
Exon sequences
Seq C1 exon
GGGGACCCAGGTGTCCGAGGCCCAGCAGGAGAAAAG
Seq A exon
GGTGACCGGGGTCCCCCTGGGCTGGATGGCCGGAGCGGACTGGATGGGAAACCAGGAGCCGCTGGGCCCTCTGGGCCGAAT
Seq C2 exon
GGTGCTGCAGGCAAAGCTGGGGACCCAGGGAGAGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'75-94,'75-93,76-94=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(12.0=100),PF0139113=Collagen=PU(9.1=66.7)
A:
PF0139113=Collagen=PD(6.5=22.2),PF0139113=Collagen=FE(29.5=100)
C2:
PF0139113=Collagen=FE(12.5=100)
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:
GGGACCCAGGTGTCCGAG
R:
GTCTCTCCCTGGGTCCCCA
Band lengths:
71-152
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains