HsaEX6091397 @ hg38
Exon Skipping
Gene
ENSG00000197766 | CFD
Description
complement factor D [Source:HGNC Symbol;Acc:HGNC:2771]
Coordinates
chr19:860861-863630:+
Coord C1 exon
chr19:860861-861005
Coord A exon
chr19:861699-861956
Coord C2 exon
chr19:863092-863630
Length
258 bp
Sequences
Splice sites
3' ss Seq
ACGTCCGCCTCCACCCTCAGCTG
3' ss Score
7.67
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GGCCGACGGGAAGGTGCAGGTTCTCCTGGGCGCGCACTCCCTGTCGCAGCCGGAGCCCTCCAAGCGCCTGTACGACGTGCTCCGCGCAGTGCCCCACCCGGACAGCCAGCCCGACACCATCGACCACGACCTCCTGCTGCTACAG
Seq A exon
CTGTCGGAGAAGGCCACACTGGGCCCTGCTGTGCGCCCCCTGCCCTGGCAGCGCGTGGACCGCGACGTGGCACCGGGAACTCTCTGCGACGTGGCCGGCTGGGGCATAGTCAACCACGCGGGCCGCCGCCCGGACAGCCTGCAGCACGTGCTCTTGCCAGTGCTGGACCGCGCCACCTGCAACCGGCGCACGCACCACGACGGCGCCATCACCGAGCGCTTGATGTGCGCGGAGAGCAATCGCCGGGACAGCTGCAAG
Seq C2 exon
GGTGACTCCGGGGGCCCGCTGGTGTGCGGGGGCGTGCTCGAGGGCGTGGTCACCTCGGGCTCGCGCGTTTGCGGCAACCGCAAGAAGCCCGGGATCTACACCCGCGTGGCGAGCTATGCGGCCTGGATCGACAGCGTCCTGGCCTAGGGTGCCGGGGCCTGAAGGTCAGGGTCACCCAAGCAACAAAGTCCCGAGCAATGAAGTCATCCACTCCTGCATCTGGTTGGTCTTTATTGAGCACCTACTATATGCAGAAGGGGAGGCCGAGGTGGGAGGATCATTGGATCTCAGGAGTTCGAGATCAGCATGGGCCACGTAGCGCGACTCCATCTCTACAAATAAATAAAAAATTAGCTGGGCAATTGGCGGGCATGGAGGTGGGTGCTTGTAGTTCCAGCTACTCAGGAGGCTGAGGTGGGAGGATGACTTGAACGCAGGAGGCTGAGGCTGCAGTGAGTTGTGATTGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197766-'6-5,'6-2,8-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.163 A=0.070 C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(21.5=100)
A:
PF0008921=Trypsin=FE(38.1=100)
C2:
PF0008921=Trypsin=PD(18.8=85.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGACCTCCTGCTGCTACAG
R:
TCCAATGATCCTCCCACCTCG
Band lengths:
305-563
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains