HsaEX0014927 @ hg38
Exon Skipping
Gene
ENSG00000134365 | CFHR4
Description
complement factor H related 4 [Source:HGNC Symbol;Acc:HGNC:16979]
Coordinates
chr1:196912740-196915138:+
Coord C1 exon
chr1:196912740-196912922
Coord A exon
chr1:196914495-196914671
Coord C2 exon
chr1:196914956-196915138
Length
177 bp
Sequences
Splice sites
3' ss Seq
TCAATTTTATTTTGTTTCAGAAT
3' ss Score
9.67
5' ss Seq
ATAGTAAGT
5' ss Score
8.65
Exon sequences
Seq C1 exon
GAACATGCTCAAAATCAGATATAGAAATTGAAAATGGATTCATTTCTGAATCTTCCTCTATTTATATTTTAAATAAAGAAATACAATATAAATGTAAACCAGGATATGCAACAGCAGATGGAAATTCTTCAGGTTCAATTACATGTTTGCAAAATGGATGGTCAGCACAACCAATTTGCATTA
Seq A exon
AATTTTGTGATATGCCTGTTTTTGAGAATTCCAGAGCCAAGAGTAATGGCATGCGGTTTAAGCTCCATGACACATTGGACTACGAATGCTACGATGGATATGAAATCAGTTATGGAAACACCACAGGTTCCATAGTGTGTGGTGAAGATGGGTGGTCCCATTTCCCAACATGTTATA
Seq C2 exon
ATTCTTCAGAAAAGTGTGGGCCTCCTCCACCTATTAGCAATGGTGATACCACCTCCTTTCTACTAAAAGTGTATGTGCCACAGTCAAGAGTCGAGTACCAATGCCAGTCCTACTATGAACTTCAGGGTTCTAATTATGTAACATGTAGTAATGGAGAGTGGTCGGAACCACCAAGATGCATAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134365_CASSETTE1
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=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=PD(3.1=3.2),PF0008415=Sushi=WD(100=95.2)
A:
PF0008415=Sushi=WD(100=93.3)
C2:
PF0008415=Sushi=WD(100=88.7)
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:
ACCAGGATATGCAACAGCAGA
R:
GGTTCCGACCACTCTCCATTAC
Band lengths:
255-432
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development