HsaINT0059129 @ hg38
Intron Retention
Gene
ENSG00000131187 | F12
Description
coagulation factor XII [Source:HGNC Symbol;Acc:HGNC:3530]
Coordinates
chr5:177404810-177405185:-
Coord C1 exon
chr5:177405054-177405185
Coord A exon
chr5:177404915-177405053
Coord C2 exon
chr5:177404810-177404914
Length
139 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGC
5' ss Score
7.75
3' ss Seq
CACTGCGTTCCCTCCCCAAGCCT
3' ss Score
4.71
Exon sequences
Seq C1 exon
AGAAGTGCTTTGAGCCTCAGCTTCTCCGGTTTTTCCACAAGAATGAGATATGGTATAGAACTGAGCAAGCAGCTGTGGCCAGATGCCAGTGCAAGGGTCCTGATGCCCACTGCCAGCGGCTGGCCAGCCAGG
Seq A exon
GTGAGCAGATGGTTGGGAACGGGCCAGGGAGGAGCGTCAGGAAGACAGGCTGGCAGGAGGCCGGGTGGTGTGCCAGGAAGGAGAGCTCTCTGGGGGGGTCTTTAGGCCCAGGGGTGGCTCACTGCGTTCCCTCCCCAAG
Seq C2 exon
CCTGCCGCACCAACCCGTGCCTCCATGGGGGTCGCTGCCTAGAGGTGGAGGGCCACCGCCTGTGCCACTGCCCGGTGGGCTACACCGGAGCCTTCTGCGACGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131187:ENST00000253496:6
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=0.000
Domain overlap (PFAM):
C1:
PF0003913=fn1=WD(100=80.0)
A:
NA
C2:
PF0000822=EGF=WD(100=86.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAGTGCTTTGAGCCTCAGC
R:
CACGTCGCAGAAGGCTCC
Band lengths:
236-375
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