Special

HsaEX6101424 @ hg19

Exon Skipping

Gene
Description
coagulation factor XII (Hageman factor) [Source:HGNC Symbol;Acc:3530]
Coordinates
chr5:176830860-176831915:-
Coord C1 exon
chr5:176831811-176831915
Coord A exon
chr5:176831197-176831414
Coord C2 exon
chr5:176830860-176831091
Length
218 bp
Sequences
Splice sites
3' ss Seq
GCCCCGTCGTGTGGCTACAGGAA
3' ss Score
6.78
5' ss Seq
GAGGTTAGG
5' ss Score
4.36
Exon sequences
Seq C1 exon
CCTGCCGCACCAACCCGTGCCTCCATGGGGGTCGCTGCCTAGAGGTGGAGGGCCACCGCCTGTGCCACTGCCCGGTGGGCTACACCGGAGCCTTCTGCGACGTGG
Seq A exon
GAACCCGGACAACGACATCCGCCCGTGGTGCTTCGTGCTGAACCGCGACCGGCTGAGCTGGGAGTACTGCGACCTGGCACAGTGCCAGACCCCAACCCAGGCGGCGCCTCCGACCCCGGTGTCCCCTAGGCTTCATGTCCCACTCATGCCCGCGCAGCCGGCACCGCCGAAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAG
Seq C2 exon
CCTTGCCGGCGAAGCGGGAGCAGCCGCCTTCCCTGACCAGGAACGGCCCACTGAGCTGCGGGCAGCGGCTCCGCAAGAGTCTGTCTTCGATGACCCGCGTCGTTGGCGGGCTGGTGGCGCTACGCGGGGCGCACCCCTACATCGCCGCGCTGTACTGGGGCCACAGTTTCTGCGCCGGCAGCCTCATCGCCCCCTGCTGGGTGCTGACGGCCGCTCACTGCCTGCAGGACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131187-'6-10,'6-9,8-10=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.554 C2=0.218
Domain overlap (PFAM):

C1:
PF0000822=EGF=WD(100=86.1)
A:
PF0005113=Kringle=PD(35.4=37.8)
C2:
PF0008921=Trypsin=PU(18.6=56.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCGCTGCCTAGAGGTGGAG
R:
GTCCTGCAGGCAGTGAGC
Band lengths:
305-523
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains