HsaEX6091398 @ hg38
Exon Skipping
Gene
ENSG00000197766 | CFD
Description
complement factor D [Source:HGNC Symbol;Acc:HGNC:2771]
Coordinates
chr19:860617-861956:+
Coord C1 exon
chr19:860617-860773
Coord A exon
chr19:860861-861005
Coord C2 exon
chr19:861699-861956
Length
145 bp
Sequences
Splice sites
3' ss Seq
GGACTCCGTCCGGTCCCCAGGGC
3' ss Score
7.36
5' ss Seq
CAGGTCGGC
5' ss Score
6.32
Exon sequences
Seq C1 exon
CGGCGCCGCCCCGTGGTCGGATCCTGGGCGGCAGAGAGGCCGAGGCGCACGCGCGGCCCTACATGGCGTCGGTGCAGCTGAACGGCGCGCACCTGTGCGGCGGCGTCCTGGTGGCGGAGCAGTGGGTGCTGAGCGCGGCGCACTGCCTGGAGGACGC
Seq A exon
GGCCGACGGGAAGGTGCAGGTTCTCCTGGGCGCGCACTCCCTGTCGCAGCCGGAGCCCTCCAAGCGCCTGTACGACGTGCTCCGCGCAGTGCCCCACCCGGACAGCCAGCCCGACACCATCGACCACGACCTCCTGCTGCTACAG
Seq C2 exon
CTGTCGGAGAAGGCCACACTGGGCCCTGCTGTGCGCCCCCTGCCCTGGCAGCGCGTGGACCGCGACGTGGCACCGGGAACTCTCTGCGACGTGGCCGGCTGGGGCATAGTCAACCACGCGGGCCGCCGCCCGGACAGCCTGCAGCACGTGCTCTTGCCAGTGCTGGACCGCGCCACCTGCAACCGGCGCACGCACCACGACGGCGCCATCACCGAGCGCTTGATGTGCGCGGAGAGCAATCGCCGGGACAGCTGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197766-'5-2,'5-1,6-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.163 C2=0.070
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=PU(20.2=84.9)
A:
PF0008921=Trypsin=FE(21.5=100)
C2:
PF0008921=Trypsin=FE(38.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATCCTGGGCGGCAGAGA
R:
GTGGTTGACTATGCCCCAGC
Band lengths:
255-400
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains