HsaEX6035723 @ hg19
Exon Skipping
Gene
ENSG00000000971 | CFH
Description
complement factor H [Source:HGNC Symbol;Acc:4883]
Coordinates
chr1:196659193-196684899:+
Coord C1 exon
chr1:196659193-196659369
Coord A exon
chr1:196682865-196683047
Coord C2 exon
chr1:196684723-196684899
Length
183 bp
Sequences
Splice sites
3' ss Seq
CTTATTCTCTTCCCTTTTAGAAA
3' ss Score
10.94
5' ss Seq
TTAGTAAGT
5' ss Score
7.79
Exon sequences
Seq C1 exon
GAAAATGTTATTTTCCTTATTTGGAAAATGGATATAATCAAAATCATGGAAGAAAGTTTGTACAGGGTAAATCTATAGACGTTGCCTGCCATCCTGGCTACGCTCTTCCAAAAGCGCAGACCACAGTTACATGTATGGAGAATGGCTGGTCTCCTACTCCCAGATGCATCCGTGTCA
Seq A exon
AAACATGTTCCAAATCAAGTATAGATATTGAGAATGGGTTTATTTCTGAATCTCAGTATACATATGCCTTAAAAGAAAAAGCGAAATATCAATGCAAACTAGGATATGTAACAGCAGATGGTGAAACATCAGGATCAATTACATGTGGGAAAGATGGATGGTCAGCTCAACCCACGTGCATTA
Seq C2 exon
AATCTTGTGATATCCCAGTATTTATGAATGCCAGAACTAAAAATGACTTCACATGGTTTAAGCTGAATGACACATTGGACTATGAATGCCATGATGGTTATGAAAGCAATACTGGAAGCACCACTGGTTCCATAGTGTGTGGTTACAATGGTTGGTCTGATTTACCCATATGTTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000000971-'12-18,'12-17,19-18=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=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=PD(3.1=3.3),PF0008415=Sushi=WD(100=90.0)
A:
PF0008415=Sushi=WD(100=93.5)
C2:
PF0008415=Sushi=WD(100=93.3)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
ATAGACGTTGCCTGCCATCCT
R:
CCACACACTATGGAACCAGTGG
Band lengths:
245-428
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)