HsaEX1008537 @ hg38
Exon Skipping
Gene
ENSG00000134365 | CFHR4
Description
complement factor H related 4 [Source:HGNC Symbol;Acc:HGNC:16979]
Coordinates
chr1:196905108-196907498:+
Coord C1 exon
chr1:196905108-196905290
Coord A exon
chr1:196906861-196907037
Coord C2 exon
chr1:196907316-196907498
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
GAACATGCTCAAAATCAGATGTAGAAATTGAAAATGGATTCATTTCTGAATCTTCCTCTATTTATATTTTAAATGAAGAAACACAATATAATTGTAAACCAGGATATGCAACAGCAGAGGGAAATTCTTCAGGATCAATTACATGTTTGCAAAATGGATGGTCAACACAACCAATTTGCATTA
Seq A exon
AATTTTGTGATATGCCTGTTTTTGAGAATTCCAGAGCCAAGAGTAATGGCATGTGGTTTAAGCTCCATGACACATTGGACTATGAATGCTATGATGGATATGAAAGCAGTTATGGAAACACCACAGATTCCATAGTGTGTGGTGAAGATGGCTGGTCCCATTTGCCAACATGCTATA
Seq C2 exon
ATTCTTCAGAAAACTGTGGGCCTCCTCCACCTATTAGCAATGGAGATACCACGTCCTTCCCGCAAAAAGTGTATCTGCCATGGTCAAGAGTCGAGTACCAGTGCCAGTCCTACTATGAACTTCAGGGTTCTAAATATGTAACATGTAGTAATGGAGACTGGTCAGAACCACCAAGATGCATAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134365_MULTIEX1-2/4=1-3
Average complexity
S
Mappability confidence:
83%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.048
Domain overlap (PFAM):
C1:
PF0008415=Sushi=PD(3.1=3.2),PF0008415=Sushi=PD(96.7=95.2)
A:
PF0008415=Sushi=WD(100=93.3)
C2:
PF0008415=Sushi=WD(100=88.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
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:
TGCAACAGCAGAGGGAAATTCT
R:
TGCATCTTGGTGGTTCTGACC
Band lengths:
257-434
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains