HsaINT0059130 @ hg38
Intron Retention
Gene
ENSG00000131187 | F12
Description
coagulation factor XII [Source:HGNC Symbol;Acc:HGNC:3530]
Coordinates
chr5:177404499-177404914:-
Coord C1 exon
chr5:177404810-177404914
Coord A exon
chr5:177404665-177404809
Coord C2 exon
chr5:177404499-177404664
Length
145 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
3' ss Seq
GGAGCCCCCTTTCTCCTCAGACA
3' ss Score
6.77
Exon sequences
Seq C1 exon
CCTGCCGCACCAACCCGTGCCTCCATGGGGGTCGCTGCCTAGAGGTGGAGGGCCACCGCCTGTGCCACTGCCCGGTGGGCTACACCGGAGCCTTCTGCGACGTGG
Seq A exon
GTGAGTGAGGGTCTGGGGCAAGCAGAAGGCCAGCCCCCAGGTGGGACGGGCTTGCCAGGAAGGAGGAGGGAGAGTGCGGAAAGCAGATGAGAGGGAGGCAGGAGAGCCCAGCCTTGGCTGCCCAGGGAGCCCCCTTTCTCCTCAG
Seq C2 exon
ACACCAAGGCAAGCTGCTATGATGGCCGCGGGCTCAGCTACCGCGGCCTGGCCAGGACCACGCTCTCGGGTGCGCCCTGTCAGCCGTGGGCCTCGGAGGCCACCTACCGGAACGTGACTGCCGAGCAAGCGCGGAACTGGGGACTGGGCGGCCACGCCTTCTGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131187:ENST00000253496:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.018
Domain overlap (PFAM):
C1:
PF0000822=EGF=WD(100=86.1)
A:
NA
C2:
PF0005113=Kringle=PU(63.3=89.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAACCCGTGCCTCCATGG
R:
CCCAGTCCCCAGTTCCGC
Band lengths:
243-388
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