HsaEX6055799 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48581122-48581483:-
Coord C1 exon
chr3:48581448-48581483
Coord A exon
chr3:48581260-48581340
Coord C2 exon
chr3:48581122-48581157
Length
81 bp
Sequences
Splice sites
3' ss Seq
CCCTCTTGCCTCCTCCACAGGGT
3' ss Score
11.31
5' ss Seq
GATGTAAGA
5' ss Score
5.46
Exon sequences
Seq C1 exon
GGTCCCATTGGCCTTACTGGCAGAGCAGGACCCCCA
Seq A exon
GGTGACTCAGGGCCTCCTGGAGAGAAGGGAGACCCTGGGCGGCCTGGCCCCCCAGGACCTGTTGGCCCCCGAGGACGAGAT
Seq C2 exon
GGTGAAGTTGGAGAGAAAGGTGACGAGGGTCCTCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'63-78,'63-76,64-78=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(16.4=100),PF0139113=Collagen=FE(20.0=100),PF0139113=Collagen=PU(9.1=66.7)
A:
PF0139113=Collagen=PD(7.5=18.5),PF0139113=Collagen=FE(47.3=100),PF0139113=Collagen=FE(29.5=100)
C2:
PF0139113=Collagen=PD(1.8=8.3),PF0139113=Collagen=FE(12.5=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:
GGTCCCATTGGCCTTACTGG
R:
GGAGGACCCTCGTCACCTTTC
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