HsaINT0034111 @ hg38
Intron Retention
Gene
ENSG00000197766 | CFD
Description
complement factor D [Source:HGNC Symbol;Acc:HGNC:2771]
Coordinates
chr19:861699-863630:+
Coord C1 exon
chr19:861699-861956
Coord A exon
chr19:861957-863091
Coord C2 exon
chr19:863092-863630
Length
1135 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
3' ss Seq
GCCCCGTCCTGTTCCGGCAGGGT
3' ss Score
9.4
Exon sequences
Seq C1 exon
CTGTCGGAGAAGGCCACACTGGGCCCTGCTGTGCGCCCCCTGCCCTGGCAGCGCGTGGACCGCGACGTGGCACCGGGAACTCTCTGCGACGTGGCCGGCTGGGGCATAGTCAACCACGCGGGCCGCCGCCCGGACAGCCTGCAGCACGTGCTCTTGCCAGTGCTGGACCGCGCCACCTGCAACCGGCGCACGCACCACGACGGCGCCATCACCGAGCGCTTGATGTGCGCGGAGAGCAATCGCCGGGACAGCTGCAAG
Seq A exon
GTGAGCCTTCAGGCCTGGGAGGAGACGCGGGGCCTGCAGGCCCCGGGAAGGGCCTGCAGAGGGAGCGCGAAGCGGGGGGCAAGTAGGAACAGGGCCCAGGGAAGGGGCGGGGCGCGTAGGGGGCGGGAACTGGAAGATGGGCGGAGCATGAGGGTGGCCCGTGGGCGGGGCCTGTATGAGGGGGCGGGGCATGTGGGTAGGGTGGGGCCTTGGGGGCGAGGCCTGGAGAAGGTACGGGGCCTCTGGAGAGGGTGGGGCTGAAGAAGGGTCAGGGCGGGCAGAAAGGGCAGGAACGGGTGGGATGTGGAAGGACCTGTGGGTTAGGGTGGGAATAGGGGGCGGGGCTCGAGGAGGGGGCGGAGTCCAGTAATAGCGGGACTGCAAGGGGGCGAGGCCAGGAAGAGGGTTGGGGCATGAGGGGCAGGGCATGGAGGAAGGGGCGGTACCTGTGGGGAGGGTGGGGCTGGAGAAGGGTCAGGGCGGGCAAAAGGGCAGGTGGCAGAGAAAGGGTGGGAGGTATAGGGGGCGGGCACGTGGAGGAAGGGGCGGGGCATGGGGACGGGGCGGGGCAGGTGGAAGGGGCGGGAACCTCTGAAGGGGCAGGGCTGGTGCGGAGCGGGATCCCTGCTGTGGCAGGGAAGAGAAGGGGTCCTGAGCAGGGCAGAGGTTTAAGACCAGCCGAGGCTTGCATGGTAGCCGGGGCCAAGATTGGGTGGGGCTTAAGGGAGGGGCGTGGCCTGAGGTGAGTGGGGACTGAGCAGAGCAGGTGGCCACTGAGACGCGTTAGGGCAGAAGTGGGATCCACGGCAAGTCAAAGCTTGGAAGAGCAGGAATGAGGTGTGGGACCCCCATACTGGAAAGGGCTTGGAGCGGGGTGGGGTCGGGGGAACACGTGGTGAGGTTGAGGCCAGAGGGGGTGTGGCCAGGAGCTGGGGGCGGGCCTAGAGGGGCGTGGCTTGTGGTTGTGGCCTAGGCGATAGGCGTGGCGCGGGGCTATTGACTAGTGAAGACCAAATTAACACGGGAGGGATGAGCGAGCATTGTGGGGCGGGAGCGGCAGCCAGGTGAGGGGGTCTAACACGTGAGGCCGGGGTGGGCGCGGGCCGCCCCTCACGGCCCCGTCCTGTTCCGGCAG
Seq C2 exon
GGTGACTCCGGGGGCCCGCTGGTGTGCGGGGGCGTGCTCGAGGGCGTGGTCACCTCGGGCTCGCGCGTTTGCGGCAACCGCAAGAAGCCCGGGATCTACACCCGCGTGGCGAGCTATGCGGCCTGGATCGACAGCGTCCTGGCCTAGGGTGCCGGGGCCTGAAGGTCAGGGTCACCCAAGCAACAAAGTCCCGAGCAATGAAGTCATCCACTCCTGCATCTGGTTGGTCTTTATTGAGCACCTACTATATGCAGAAGGGGAGGCCGAGGTGGGAGGATCATTGGATCTCAGGAGTTCGAGATCAGCATGGGCCACGTAGCGCGACTCCATCTCTACAAATAAATAAAAAATTAGCTGGGCAATTGGCGGGCATGGAGGTGGGTGCTTGTAGTTCCAGCTACTCAGGAGGCTGAGGTGGGAGGATGACTTGAACGCAGGAGGCTGAGGCTGCAGTGAGTTGTGATTGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAAACCTTGTCTCTCTCTACAAAAAAAAAAAAAAAATTCTGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197766:ENST00000327726:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.070 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0008921=Trypsin=FE(38.1=100)
A:
NA
C2:
PF0008921=Trypsin=PD(18.8=85.7)
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:
GCTGGGGCATAGTCAACCAC
R:
GGGACTTTGTTGCTTGGGTGA
Band lengths:
353-1488
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