HsaEX6035731 @ hg38
Exon Skipping
Gene
ENSG00000116785 | CFHR3
Description
complement factor H related 3 [Source:HGNC Symbol;Acc:HGNC:16980]
Coordinates
chr1:196779162-196788398:+
Coord C1 exon
chr1:196779162-196779356
Coord A exon
chr1:196779797-196779973
Coord C2 exon
chr1:196788216-196788398
Length
177 bp
Sequences
Splice sites
3' ss Seq
TATCATTGCTATGTCCTTAGGAA
3' ss Score
9.02
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
Exon sequences
Seq C1 exon
TGAAACCTTGTGATTTTCCAGACATTAAACATGGAGGTCTATTTCATGAGAATATGCGTAGACCATACTTTCCAGTAGCTGTAGGAAAATATTACTCCTATTACTGTGATGAACATTTTGAGACTCCTTCAGGAAGTTACTGGGATTACATTCATTGCACACAAAATGGGTGGTCACCAGCAGTACCATGTCTCA
Seq A exon
GAAAATGTTATTTTCCTTATTTGGAAAATGGATATAATCAAAATTATGGAAGAAAGTTTGTACAGGGTAACTCTACAGAAGTTGCCTGCCATCCTGGCTACGGTCTTCCAAAAGCGCAGACCACAGTTACATGTACGGAGAAAGGCTGGTCTCCTACTCCCAGATGCATCCGTGTCA
Seq C2 exon
GAACATGCTCAAAATCAGATATAGAAATTGAAAATGGATTCATTTCCGAATCTTCCTCTATTTATATTTTAAATAAAGAAATACAATATAAATGTAAACCAGGATATGCAACAGCAGATGGAAATTCTTCAGGATCAATTACATGTTTGCAAAATGGATGGTCAGCACAACCAATTTGCATTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116785-'2-3,'2-2,3-3=AN
Average complexity
A_S
Mappability confidence:
57%=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=PU(95.4=93.9),PF0008415=Sushi=PU(1.8=1.5)
A:
PF0008415=Sushi=PD(3.1=3.3),PF0008415=Sushi=PD(96.5=91.7),PF0008415=Sushi=PU(0.1=0.0)
C2:
PF0008415=Sushi=PU(86.3=97.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTCCTTCAGGAAGTTACTGGGA
R:
TGGTTGTGCTGACCATCCATT
Band lengths:
246-423
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains