HsaEX6035717 @ hg38
Exon Skipping
Gene
ENSG00000000971 | CFH
Description
complement factor H [Source:HGNC Symbol;Acc:HGNC:4883]
Coordinates
chr1:196740619-196743628:+
Coord C1 exon
chr1:196740619-196740792
Coord A exon
chr1:196741875-196742051
Coord C2 exon
chr1:196743452-196743628
Length
177 bp
Sequences
Splice sites
3' ss Seq
ACATATTTTTCCTATTTCAGAAA
3' ss Score
9.74
5' ss Seq
GAGGTACTT
5' ss Score
7.82
Exon sequences
Seq C1 exon
GCCTTCCTTGTAAATCTCCACCTGAGATTTCTCATGGTGTTGTAGCTCACATGTCAGACAGTTATCAGTATGGAGAAGAAGTTACGTACAAATGTTTTGAAGGTTTTGGAATTGATGGGCCTGCAATTGCAAAATGCTTAGGAGAAAAATGGTCTCACCCTCCATCATGCATAA
Seq A exon
AAACAGATTGTCTCAGTTTACCTAGCTTTGAAAATGCCATACCCATGGGAGAGAAGAAGGATGTGTATAAGGCGGGTGAGCAAGTGACTTACACTTGTGCAACATATTACAAAATGGATGGAGCCAGTAATGTAACATGCATTAATAGCAGATGGACAGGAAGGCCAACATGCAGAG
Seq C2 exon
ACACCTCCTGTGTGAATCCGCCCACAGTACAAAATGCTTATATAGTGTCGAGACAGATGAGTAAATATCCATCTGGTGAGAGAGTACGTTATCAATGTAGGAGCCCTTATGAAATGTTTGGGGATGAAGAAGTGATGTGTTTAAATGGAAACTGGACGGAACCACCTCAATGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000000971-'39-59,'39-57,45-59=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.017
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=91.5)
A:
PF0008415=Sushi=WD(100=91.7)
C2:
PF0008415=Sushi=WD(100=91.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGGAATTGATGGGCCTGCA
R:
CATTGAGGTGGTTCCGTCCAG
Band lengths:
242-419
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains