Special

HsaEX6101423 @ hg38

Exon Skipping

Gene
Description
coagulation factor XII [Source:HGNC Symbol;Acc:HGNC:3530]
Coordinates
chr5:177404196-177404914:-
Coord C1 exon
chr5:177404810-177404914
Coord A exon
chr5:177404499-177404664
Coord C2 exon
chr5:177404196-177404413
Length
166 bp
Sequences
Splice sites
3' ss Seq
GGAGCCCCCTTTCTCCTCAGACA
3' ss Score
6.77
5' ss Seq
CCGGTGCGC
5' ss Score
7.96
Exon sequences
Seq C1 exon
CCTGCCGCACCAACCCGTGCCTCCATGGGGGTCGCTGCCTAGAGGTGGAGGGCCACCGCCTGTGCCACTGCCCGGTGGGCTACACCGGAGCCTTCTGCGACGTGG
Seq A exon
ACACCAAGGCAAGCTGCTATGATGGCCGCGGGCTCAGCTACCGCGGCCTGGCCAGGACCACGCTCTCGGGTGCGCCCTGTCAGCCGTGGGCCTCGGAGGCCACCTACCGGAACGTGACTGCCGAGCAAGCGCGGAACTGGGGACTGGGCGGCCACGCCTTCTGCCG
Seq C2 exon
GAACCCGGACAACGACATCCGCCCGTGGTGCTTCGTGCTGAACCGCGACCGGCTGAGCTGGGAGTACTGCGACCTGGCACAGTGCCAGACCCCAACCCAGGCGGCGCCTCCGACCCCGGTGTCCCCTAGGCTTCATGTCCCACTCATGCCCGCGCAGCCGGCACCGCCGAAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131187-'9-14,'9-12,11-14
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.018 C2=0.554
Domain overlap (PFAM):

C1:
PF0000822=EGF=WD(100=86.1)
A:
PF0005113=Kringle=PU(63.3=89.3)
C2:
PF0005113=Kringle=PD(35.4=37.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAACCCGTGCCTCCATGG
R:
GGGCATGAGTGGGACATGAAG
Band lengths:
246-412
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains