HsaEX6055797 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48581448-48581759:-
Coord C1 exon
chr3:48581706-48581759
Coord A exon
chr3:48581573-48581632
Coord C2 exon
chr3:48581448-48581483
Length
60 bp
Sequences
Splice sites
3' ss Seq
TCTTATCCTTCCATCCACAGGGC
3' ss Score
12.34
5' ss Seq
CGGGTGAAT
5' ss Score
3.31
Exon sequences
Seq C1 exon
GGAGATGTGGGGCCCGCTGGGCCCAGAGGAGCTACCGGAGTCCAAGGGGAACGG
Seq A exon
GGCCCACCCGGCTTGGTTCTTCCTGGAGACCCTGGCCCCAAGGGAGACCCTGGAGACCGG
Seq C2 exon
GGTCCCATTGGCCTTACTGGCAGAGCAGGACCCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'61-75,'61-74,62-75=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(25.4=100)
A:
PF0139113=Collagen=FE(28.4=100),PF0139113=Collagen=PU(23.6=65.0)
C2:
PF0139113=Collagen=FE(16.4=100),PF0139113=Collagen=FE(20.0=100),PF0139113=Collagen=PU(9.1=66.7)
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:
GAGATGTGGGGCCCGCTG
R:
GGTCCTGCTCTGCCAGTAAGG
Band lengths:
85-145
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains