HsaEX6035721 @ hg19
Exon Skipping
Gene
ENSG00000000971 | CFH
Description
complement factor H [Source:HGNC Symbol;Acc:4883]
Coordinates
chr1:196694251-196696070:+
Coord C1 exon
chr1:196694251-196694427
Coord A exon
chr1:196695600-196695782
Coord C2 exon
chr1:196695891-196696070
Length
183 bp
Sequences
Splice sites
3' ss Seq
ACATAGTATTTCTACTATAGAGC
3' ss Score
3.72
5' ss Seq
TTGGTAATG
5' ss Score
4.83
Exon sequences
Seq C1 exon
AAAGAGAATGCGAACTTCCTAAAATAGATGTACACTTAGTTCCTGATCGCAAGAAAGACCAGTATAAAGTTGGAGAGGTGTTGAAATTCTCCTGCAAACCAGGATTTACAATAGTTGGACCTAATTCCGTTCAGTGCTACCACTTTGGATTGTCTCCTGACCTCCCAATATGTAAAG
Seq A exon
AGCAAGTACAATCATGTGGTCCACCTCCTGAACTCCTCAATGGGAATGTTAAGGAAAAAACGAAAGAAGAATATGGACACAGTGAAGTGGTGGAATATTATTGCAATCCTAGATTTCTAATGAAGGGACCTAATAAAATTCAATGTGTTGATGGAGAGTGGACAACTTTACCAGTGTGTATTG
Seq C2 exon
TGGAGGAGAGTACCTGTGGAGATATACCTGAACTTGAACATGGCTGGGCCCAGCTTTCTTCCCCTCCTTATTACTATGGAGATTCAGTGGAATTCAATTGCTCAGAATCATTTACAATGATTGGACACAGATCAATTACGTGTATTCATGGAGTATGGACCCAACTTCCCCAGTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000000971-'22-22,'22-21,23-22=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=0.065 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=91.7)
A:
PF0008415=Sushi=WD(100=88.7)
C2:
PF0008415=Sushi=WD(100=88.5)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGACCTAATTCCGTTCAGTGC
R:
CCACACACTGGGGAAGTTGG
Band lengths:
242-425
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)