HsaEX1008535 @ hg38
Exon Skipping
Gene
ENSG00000116785 | CFHR3
Description
complement factor H related 3 [Source:HGNC Symbol;Acc:HGNC:16980]
Coordinates
chr1:196788216-196789735:+
Coord C1 exon
chr1:196788216-196788398
Coord A exon
chr1:196788745-196788944
Coord C2 exon
chr1:196789635-196789735
Length
200 bp
Sequences
Splice sites
3' ss Seq
TTGTATTTCAAAATTATCAGCTG
3' ss Score
3.68
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GAACATGCTCAAAATCAGATATAGAAATTGAAAATGGATTCATTTCCGAATCTTCCTCTATTTATATTTTAAATAAAGAAATACAATATAAATGTAAACCAGGATATGCAACAGCAGATGGAAATTCTTCAGGATCAATTACATGTTTGCAAAATGGATGGTCAGCACAACCAATTTGCATTA
Seq A exon
CTGCTTGTATTGCATTCCGTGCTCACGCTCAGAAAAGTTGTACATGTCGGGGGAGAAATGAGTGCTTAATTCTGAATTTCTGCTAGCGTCAGGAGAATCAGACCTTAATAATTTGTATCAATGATGCTACTGAGGATATCCAATCAAAAAATTATCTCTACCCTATTGTTTACTACAGAGAAAACAAGTAAAGGAAAAGG
Seq C2 exon
CGGTTTAAGCTCCGTGACACATTGGACTACGAATGCTACGATGGATATGAAATCAGTTATGGAAACACCACAGGTTCCATAGTGTGTGGTGAAGATGGGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116785-'6-5,'6-4,7-5
Average complexity
C1
Mappability confidence:
75%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=NA
Domain overlap (PFAM):
C1:
PF0008415=Sushi=PU(86.3=97.8)
A:
NO
C2:
NA
Main Skipping Isoform:
ENST00000367425fB12269
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
AATGGATTCATTTCCGAATCTTCCT
R:
TACCCATCTTCACCACACACT
Band lengths:
252-452
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains