HsaINT0034109 @ hg38
Intron Retention
Gene
ENSG00000197766 | CFD
Description
complement factor D [Source:HGNC Symbol;Acc:HGNC:2771]
Coordinates
chr19:860617-861005:+
Coord C1 exon
chr19:860617-860773
Coord A exon
chr19:860774-860860
Coord C2 exon
chr19:860861-861005
Length
87 bp
Sequences
Splice sites
5' ss Seq
CGCGTGAGT
5' ss Score
8.4
3' ss Seq
GGACTCCGTCCGGTCCCCAGGGC
3' ss Score
7.36
Exon sequences
Seq C1 exon
CGGCGCCGCCCCGTGGTCGGATCCTGGGCGGCAGAGAGGCCGAGGCGCACGCGCGGCCCTACATGGCGTCGGTGCAGCTGAACGGCGCGCACCTGTGCGGCGGCGTCCTGGTGGCGGAGCAGTGGGTGCTGAGCGCGGCGCACTGCCTGGAGGACGC
Seq A exon
GTGAGTGCCCGCGCCGCGCGGGGGAAGAGCCCGGGTGCGGTGGGGGGAGTCGGCTGGCACCGACCGCGGACTCCGTCCGGTCCCCAG
Seq C2 exon
GGCCGACGGGAAGGTGCAGGTTCTCCTGGGCGCGCACTCCCTGTCGCAGCCGGAGCCCTCCAAGCGCCTGTACGACGTGCTCCGCGCAGTGCCCCACCCGGACAGCCAGCCCGACACCATCGACCACGACCTCCTGCTGCTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197766:ENST00000327726:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.163
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=PU(20.2=84.9)
A:
NA
C2:
PF0008921=Trypsin=FE(21.5=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTACATGGCGTCGGTGCAG
R:
GTCGTACAGGCGCTTGGAG
Band lengths:
175-262
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