Special

HsaEX0016663 @ hg19

Exon Skipping

Gene
ENSG00000114270 | COL7A1
Description
collagen, type VII, alpha 1 [Source:HGNC Symbol;Acc:2214]
Coordinates
chr3:48608294-48609478:-
Coord C1 exon
chr3:48608676-48609478
Coord A exon
chr3:48608534-48608593
Coord C2 exon
chr3:48608294-48608401
Length
60 bp
Sequences
Splice sites
3' ss Seq
GATGCCTCTTTTCCTCAAAGGGT
3' ss Score
7.56
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
GTCTGATCTCCCAGATCCCAGGACACACCTGAGTTCTTGTGAACCTCTCCTTGGTCCTGTGTTTACAATCCTCCTTTCCCCTGCCCCTGGCTGCCAGCGTTCAGCCTGTGGCCATGCCTGCTCTACCCGGGAGTGGACGTGTTGGGGTTCCCCTCTGAGCGCCCGTGTGTCCGCACTCACGTCTGTGGAGCCAGATGTCTGCACTCGCGTGTGGGCTCCCTGTGCCTGTGCCATGCCTGAACTCCCACCTGTCTATGGTAGTATCTGAGCGTCCCTCTGTCTGTGCTGTCCTGAGATAGGCCATGGTCATGTCTGAGCTCCTGTGAGCCAATTCTTGGTCGCATGTCTGAGTTCCCATGTGTTCATGGTCACATCAGAACTCCCCTGGGAATATTTTCAGCCCGTGTCTGAACTCTGTGCTCATGTTCCTACCCTCTCAAATGCTGTTTGCTGGGTTTTCTTAGGGTCAGAAAGGGGCTCCAGGACCCAAAGGTTTCAAG
Seq A exon
GGTGACCCAGGAGTCGGGGTCCCGGGCTCCCCTGGGCCTCCTGGCCCTCCAGGTGTGAAG
Seq C2 exon
GGAGATCTGGGCCTCCCTGGCCTGCCCGGTGCTCCTGGTGTTGTTGGGTTCCCGGGTCAGACAGGCCCTCGAGGAGAGATGGGTCAGCCAGGCCCTAGTGGAGAGCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114270-'94-98,'94-97,95-98
Average complexity
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(19.0=100)
A:
PF0139113=Collagen=PD(8.6=25.0),PF0139113=Collagen=PU(25.9=75.0)
C2:
PF0139113=Collagen=FE(60.3=100),PF0139113=Collagen=PU(28.8=47.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGCTCATGTTCCTACCCTCT
R:
GGAACCCAACAACACCAGGAG
Band lengths:
137-197
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development