HsaEX6101424 @ hg38
Exon Skipping
Gene
ENSG00000131187 | F12
Description
coagulation factor XII [Source:HGNC Symbol;Acc:HGNC:3530]
Coordinates
chr5:177403859-177404914:-
Coord C1 exon
chr5:177404810-177404914
Coord A exon
chr5:177404196-177404413
Coord C2 exon
chr5:177403859-177404090
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_MULTIEX1-2/2=C1-C2
Average complexity
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 Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
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:
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