Special

HsaEX0014921 @ hg19

Exon Skipping

Gene
Description
complement factor H [Source:HGNC Symbol;Acc:4883]
Coordinates
chr1:196684723-196695782:+
Coord C1 exon
chr1:196684723-196684899
Coord A exon
chr1:196694251-196694427
Coord C2 exon
chr1:196695600-196695782
Length
177 bp
Sequences
Splice sites
3' ss Seq
ATTATTTTACCTTTTTCAAGAAA
3' ss Score
5
5' ss Seq
AAGGTGAAT
5' ss Score
6.38
Exon sequences
Seq C1 exon
AATCTTGTGATATCCCAGTATTTATGAATGCCAGAACTAAAAATGACTTCACATGGTTTAAGCTGAATGACACATTGGACTATGAATGCCATGATGGTTATGAAAGCAATACTGGAAGCACCACTGGTTCCATAGTGTGTGGTTACAATGGTTGGTCTGATTTACCCATATGTTATG
Seq A exon
AAAGAGAATGCGAACTTCCTAAAATAGATGTACACTTAGTTCCTGATCGCAAGAAAGACCAGTATAAAGTTGGAGAGGTGTTGAAATTCTCCTGCAAACCAGGATTTACAATAGTTGGACCTAATTCCGTTCAGTGCTACCACTTTGGATTGTCTCCTGACCTCCCAATATGTAAAG
Seq C2 exon
AGCAAGTACAATCATGTGGTCCACCTCCTGAACTCCTCAATGGGAATGTTAAGGAAAAAACGAAAGAAGAATATGGACACAGTGAAGTGGTGGAATATTATTGCAATCCTAGATTTCTAATGAAGGGACCTAATAAAATTCAATGTGTTGATGGAGAGTGGACAACTTTACCAGTGTGTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000000971-'20-21,'20-20,22-21
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=0.065
Domain overlap (PFAM):

C1:
PF0008415=Sushi=WD(100=93.3)
A:
PF0008415=Sushi=WD(100=91.7)
C2:
PF0008415=Sushi=WD(100=88.7)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
AGCAATACTGGAAGCACCACTG
R:
ACACACTGGTAAAGTTGTCCACT
Band lengths:
252-429
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development