Special

HsaEX0023636 @ hg38

Exon Skipping

Gene
Description
coagulation factor XII [Source:HGNC Symbol;Acc:HGNC:3530]
Coordinates
chr5:177403481-177404413:-
Coord C1 exon
chr5:177404196-177404413
Coord A exon
chr5:177403859-177404090
Coord C2 exon
chr5:177403481-177403617
Length
232 bp
Sequences
Splice sites
3' ss Seq
CAGCCCCTGCTCCTCCACAGCCT
3' ss Score
6.13
5' ss Seq
CCGGCGAGT
5' ss Score
3.14
Exon sequences
Seq C1 exon
GAACCCGGACAACGACATCCGCCCGTGGTGCTTCGTGCTGAACCGCGACCGGCTGAGCTGGGAGTACTGCGACCTGGCACAGTGCCAGACCCCAACCCAGGCGGCGCCTCCGACCCCGGTGTCCCCTAGGCTTCATGTCCCACTCATGCCCGCGCAGCCGGCACCGCCGAAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAG
Seq A exon
CCTTGCCGGCGAAGCGGGAGCAGCCGCCTTCCCTGACCAGGAACGGCCCACTGAGCTGCGGGCAGCGGCTCCGCAAGAGTCTGTCTTCGATGACCCGCGTCGTTGGCGGGCTGGTGGCGCTACGCGGGGCGCACCCCTACATCGCCGCGCTGTACTGGGGCCACAGTTTCTGCGCCGGCAGCCTCATCGCCCCCTGCTGGGTGCTGACGGCCGCTCACTGCCTGCAGGACCG
Seq C2 exon
GCCCGCACCCGAGGATCTGACGGTGGTGCTCGGCCAGGAACGCCGTAACCACAGCTGTGAGCCGTGCCAGACGTTGGCCGTGCGCTCCTACCGCTTGCACGAGGCCTTCTCGCCCGTCAGCTACCAGCACGACCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131187-'12-17,'12-15,13-17
Average complexity
S
Mappability confidence:
89%=75=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.554 A=0.218 C2=0.064
Domain overlap (PFAM):

C1:
PF0005113=Kringle=PD(35.4=37.8)
A:
PF0008921=Trypsin=PU(18.6=56.4)
C2:
PF0008921=Trypsin=FE(19.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGAGCTGGGAGTACTGCGA
R:
CAGGTCGTGCTGGTAGCTGA
Band lengths:
302-534
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