HsaEX6055796 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48581573-48581943:-
Coord C1 exon
chr3:48581911-48581943
Coord A exon
chr3:48581706-48581759
Coord C2 exon
chr3:48581573-48581632
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATGGTCTTTGTCACCTCCAGGGA
3' ss Score
9.61
5' ss Seq
CGGGTAAGT
5' ss Score
10.75
Exon sequences
Seq C1 exon
GGACCTGCTGTTGCTGGACCCAAAGGAGAAAAG
Seq A exon
GGAGATGTGGGGCCCGCTGGGCCCAGAGGAGCTACCGGAGTCCAAGGGGAACGG
Seq C2 exon
GGCCCACCCGGCTTGGTTCTTCCTGGAGACCCTGGCCCCAAGGGAGACCCTGGAGACCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'60-74,'60-73,61-74=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=PD(3.3=18.2),PF0139113=Collagen=PU(14.9=90.9)
A:
PF0139113=Collagen=FE(25.4=100)
C2:
PF0139113=Collagen=FE(28.4=100),PF0139113=Collagen=PU(23.6=65.0)
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:
CTGTTGCTGGACCCAAAGGAG
R:
CGGTCTCCAGGGTCTCCC
Band lengths:
85-139
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains