HsaEX0014921 @ hg38
Exon Skipping
Gene
ENSG00000000971 | CFH
Description
complement factor H [Source:HGNC Symbol;Acc:HGNC:4883]
Coordinates
chr1:196715593-196726652:+
Coord C1 exon
chr1:196715593-196715769
Coord A exon
chr1:196725121-196725297
Coord C2 exon
chr1:196726470-196726652
Length
177 bp
Sequences
Splice sites
3' ss Seq
ATTATTTTACCTTTTTCAAGAAA
3' ss Score
5
5' ss Seq
AAGGTGAAT
5' ss Score
6.38
Exon sequences
Seq C1 exon
AATCTTGTGATATCCCAGTATTTATGAATGCCAGAACTAAAAATGACTTCACATGGTTTAAGCTGAATGACACATTGGACTATGAATGCCATGATGGTTATGAAAGCAATACTGGAAGCACCACTGGTTCCATAGTGTGTGGTTACAATGGTTGGTCTGATTTACCCATATGTTATG
Seq A exon
AAAGAGAATGCGAACTTCCTAAAATAGATGTACACTTAGTTCCTGATCGCAAGAAAGACCAGTATAAAGTTGGAGAGGTGTTGAAATTCTCCTGCAAACCAGGATTTACAATAGTTGGACCTAATTCCGTTCAGTGCTACCACTTTGGATTGTCTCCTGACCTCCCAATATGTAAAG
Seq C2 exon
AGCAAGTACAATCATGTGGTCCACCTCCTGAACTCCTCAATGGGAATGTTAAGGAAAAAACGAAAGAAGAATATGGACACAGTGAAGTGGTGGAATATTATTGCAATCCTAGATTTCTAATGAAGGGACCTAATAAAATTCAATGTGTTGATGGAGAGTGGACAACTTTACCAGTGTGTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000000971-'24-44,'24-40,27-44
Average complexity
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=0.065
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=93.3)
A:
PF0008415=Sushi=WD(100=91.7)
C2:
PF0008415=Sushi=WD(100=88.7)
Main Skipping Isoform:
NA
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:
AGCAATACTGGAAGCACCACTG
R:
ACACACTGGTAAAGTTGTCCACT
Band lengths:
252-429
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