HsaEX6035732 @ hg38
Exon Skipping
Gene
ENSG00000134365 | CFHR4
Description
complement factor H related 4 [Source:HGNC Symbol;Acc:HGNC:16979]
Coordinates
chr1:196907316-196912922:+
Coord C1 exon
chr1:196907316-196907498
Coord A exon
chr1:196910281-196910478
Coord C2 exon
chr1:196912740-196912922
Length
198 bp
Sequences
Splice sites
3' ss Seq
TTTTTGTTTTTTGTTACAAGCAA
3' ss Score
4.43
5' ss Seq
TCAGTAAGC
5' ss Score
5.59
Exon sequences
Seq C1 exon
ATTCTTCAGAAAACTGTGGGCCTCCTCCACCTATTAGCAATGGAGATACCACGTCCTTCCCGCAAAAAGTGTATCTGCCATGGTCAAGAGTCGAGTACCAGTGCCAGTCCTACTATGAACTTCAGGGTTCTAAATATGTAACATGTAGTAATGGAGACTGGTCAGAACCACCAAGATGCATAT
Seq A exon
CAATGAAACCTTGTGAGTTTCCAGAAATTCAACATGGACATCTATATTATGAGAATACGCGTAGACCATACTTTCCAGTAGCTACAGGACAATCTTACTCCTATTACTGTGACCAAAATTTTGTGACTCCTTCAGGAAGTTACTGGGATTACATTCACTGCACACAAGATGGGTGGTTGCCAACAGTCCCATGCCTCA
Seq C2 exon
GAACATGCTCAAAATCAGATATAGAAATTGAAAATGGATTCATTTCTGAATCTTCCTCTATTTATATTTTAAATAAAGAAATACAATATAAATGTAAACCAGGATATGCAACAGCAGATGGAAATTCTTCAGGTTCAATTACATGTTTGCAAAATGGATGGTCAGCACAACCAATTTGCATTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134365_MULTIEX1-4/4=3-C2
Average complexity
S
Mappability confidence:
75%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.048 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=88.7)
A:
PF0008415=Sushi=PU(95.4=92.5),PF0008415=Sushi=PU(0.1=0.0)
C2:
PF0008415=Sushi=PD(3.1=3.2),PF0008415=Sushi=WD(100=95.2)
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:
CGAGTACCAGTGCCAGTCCTA
R:
GCTGACCATCCATTTTGCAAACA
Band lengths:
258-456
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains