HsaEX6035737 @ hg38
Exon Skipping
Gene
ENSG00000134389 | CFHR5
Description
complement factor H related 5 [Source:HGNC Symbol;Acc:HGNC:24668]
Coordinates
chr1:196994080-196996201:+
Coord C1 exon
chr1:196994080-196994256
Coord A exon
chr1:196995717-196995899
Coord C2 exon
chr1:196996022-196996201
Length
183 bp
Sequences
Splice sites
3' ss Seq
TTATGGTTTCTTTATAATAGGAC
3' ss Score
8.25
5' ss Seq
TTGGTAAAT
5' ss Score
4.94
Exon sequences
Seq C1 exon
AAGGAGAATGTCATGTTCCAATTTTAGAAGCCAATGTAGATGCTCAGCCAAAAAAAGAAAGCTACAAAGTTGGAGACGTGTTGAAATTCTCCTGCAGAAAAAATCTTATAAGAGTTGGATCAGACTCAGTTCAATGTTACCAATTTGGGTGGTCACCTAACTTTCCAACATGCAAAG
Seq A exon
GACAAGTACGATCATGTGGTCCACCTCCTCAACTCTCCAATGGTGAAGTTAAGGAGATAAGAAAAGAGGAATATGGACACAATGAAGTAGTGGAATATGATTGCAATCCTAATTTTATAATAAACGGGCCTAAGAAAATACAATGTGTGGATGGAGAATGGACAACTTTACCCACTTGTGTTG
Seq C2 exon
AACAAGTGAAAACATGTGGATACATACCTGAACTCGAGTACGGTTATGTTCAGCCGTCTGTCCCTCCCTATCAACATGGAGTTTCAGTCGAGGTGAATTGCAGAAATGAATATGCAATGATTGGAAATAACATGATTACCTGTATTAATGGAATATGGACAGAGCTTCCTATGTGTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134389-'5-8,'5-7,6-8=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=0.048 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
Mouse
(mm9)
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:
GCCAATGTAGATGCTCAGCCA
R:
TCTGCAATTCACCTCGACTGA
Band lengths:
252-435
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains