HsaEX6055827 @ hg38
Exon Skipping
Gene
ENSG00000114270 | COL7A1
Description
collagen type VII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2214]
Coordinates
chr3:48571243-48572421:-
Coord C1 exon
chr3:48572380-48572421
Coord A exon
chr3:48572127-48572171
Coord C2 exon
chr3:48571243-48572045
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTCCTGACCTCTGTCAACAGGGA
3' ss Score
9.08
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
GGAGCCCCTGGAGGCCTTGCTGGAGACCTGGTGGGTGAGCCG
Seq A exon
GGAGCCAAAGGTGACCGAGGACTGCCAGGGCCGCGAGGCGAGAAG
Seq C2 exon
GGTGAAGCTGGCCGTGCAGGGGAGCCCGGAGACCCTGGGGAAGATGTGAGTCCGGGGCCTAGGCAAGGGCGAGCCTGGCCTGAGGAGTGTGATGGCGGGCATAAGGGGCCACTCTTGGGCCGGGGCACATGTCTGAGCCCCTGAGTCGGGCTGCATGTCCCAACATCCAGGAGCCTGCTCTCTGGATCACAGGGAGCCACACACTGTCGGCTTCCACACTCTGAGCTCTGGGGGCCCTGTCTTGGCTTCTGTGTGCCCATCCTTGGTCTGTTTCTCACCACATCTGGGCACACGTGTGCTCTGGTCTGATCTCCCAGATCCCAGGACACACCTGAGTTCTTGTGAACCTCTCCTTGGTCCTGTGTTTACAATCCTCCTTTCCCCTGCCCCTGGCTGCCAGCGTTCAGCCTGTGGCCATGCCTGCTCTACCCGGGAGTGGACGTGTTGGGGTTCCCCTCTGAGCGCCCGTGTGTCCGCACTCACGTCTGTGGAGCCAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'110-134,'110-133,111-134=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(12.3=57.1),PF0139113=Collagen=PU(15.5=64.3)
A:
PF0139113=Collagen=FE(24.1=100)
C2:
PF0139113=Collagen=FE(19.0=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGAGGCCTTGCTGGAGA
R:
CTTATGCCCGCCATCACACTC
Band lengths:
140-185
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains