Special

HsaEX6035732 @ hg19

Exon Skipping

Gene
Description
complement factor H-related 4 [Source:HGNC Symbol;Acc:16979]
Coordinates
chr1:196876446-196882052:+
Coord C1 exon
chr1:196876446-196876628
Coord A exon
chr1:196879411-196879608
Coord C2 exon
chr1:196881870-196882052
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-'4-5,'4-4,5-5=AN
Average complexity
A_S
Mappability confidence:
88%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=NA 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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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