HsaEX0014923 @ hg38
Exon Skipping
Gene
ENSG00000000971 | CFH
Description
complement factor H [Source:HGNC Symbol;Acc:HGNC:4883]
Coordinates
chr1:196737475-196742051:+
Coord C1 exon
chr1:196737475-196737660
Coord A exon
chr1:196740619-196740792
Coord C2 exon
chr1:196741875-196742051
Length
174 bp
Sequences
Splice sites
3' ss Seq
ATTCATTCTTTTTTTTTTAGGCC
3' ss Score
9.59
5' ss Seq
TAAGTATGG
5' ss Score
1.55
Exon sequences
Seq C1 exon
AAAAAATTCCATGTTCACAACCACCTCAGATAGAACACGGAACCATTAATTCATCCAGGTCTTCACAAGAAAGTTATGCACATGGGACTAAATTGAGTTATACTTGTGAGGGTGGTTTCAGGATATCTGAAGAAAATGAAACAACATGCTACATGGGAAAATGGAGTTCTCCACCTCAGTGTGAAG
Seq A exon
GCCTTCCTTGTAAATCTCCACCTGAGATTTCTCATGGTGTTGTAGCTCACATGTCAGACAGTTATCAGTATGGAGAAGAAGTTACGTACAAATGTTTTGAAGGTTTTGGAATTGATGGGCCTGCAATTGCAAAATGCTTAGGAGAAAAATGGTCTCACCCTCCATCATGCATAA
Seq C2 exon
AAACAGATTGTCTCAGTTTACCTAGCTTTGAAAATGCCATACCCATGGGAGAGAAGAAGGATGTGTATAAGGCGGGTGAGCAAGTGACTTACACTTGTGCAACATATTACAAAATGGATGGAGCCAGTAATGTAACATGCATTAATAGCAGATGGACAGGAAGGCCAACATGCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000000971-'35-57,'35-56,39-57
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.175 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=90.5)
A:
PF0008415=Sushi=WD(100=91.5)
C2:
PF0008415=Sushi=WD(100=91.7)
Main Skipping Isoform:
ENST00000367429fB12268
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTGTGAGGGTGGTTTCAGG
R:
GTTGGCCTTCCTGTCCATCTG
Band lengths:
254-428
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