HsaINT0059123 @ hg38
Intron Retention
Gene
ENSG00000131187 | F12
Description
coagulation factor XII [Source:HGNC Symbol;Acc:HGNC:3530]
Coordinates
chr5:177402550-177403397:-
Coord C1 exon
chr5:177403254-177403397
Coord A exon
chr5:177402699-177403253
Coord C2 exon
chr5:177402550-177402698
Length
555 bp
Sequences
Splice sites
5' ss Seq
AGGGTAGGC
5' ss Score
7.26
3' ss Seq
AAGGCGCTCTGTGTTCGCAGGGG
3' ss Score
7.25
Exon sequences
Seq C1 exon
CTCTGTTGCGCCTTCAGGAGGATGCGGACGGCAGCTGCGCGCTCCTGTCGCCTTACGTTCAGCCGGTGTGCCTGCCAAGCGGCGCCGCGCGACCCTCCGAGACCACGCTCTGCCAGGTGGCCGGCTGGGGCCACCAGTTCGAGG
Seq A exon
GTAGGCACAACTGCTAGGGGCAGGGGTAGGGGAGGAGACCTTTGATCACTGGGTTAGGCGGAAGAAGCCCGCGACTTTGGTATCGTTCCGGGTGCCTACAGAATGGGTGGCGCTGACCTGATGGGTTGTGAGAATGTGTAGGTGAATCCCAGGTAGAATCCCAGGGCCTGGGATTCACTGCTGGGATCCCCAAATCTCCTGGGGATACAGGGAGAATCGAACTTGCTCTTGGTTCCCTCTGGGCGCCGGGCTGCAAAGGCCAACTAGGACGCTGGCCCCGCGCTCCGGGCTAGTGTGGGAGCCAGGTTCTGCGACTCTGGATGGGTGGTGGGGGAGGGGTTTCTGTTTCCGCTCCGCCCATTCAAATCCTGGCTTTTCTCTGGACCTCAGCCTCCTTGCCTATGAAATTGAATTAATGGCACCTCCTCCCCTTCGGGCTTGCTGCGAGAGAGGAAGGGCATGAGTGGGTTTACAAGCGCCTGGAGCAGCTTTGTCCATCGTCCGGGCGGCAAGCGTTGTCAGATGGGGTGTGAAGAAGGCGCTCTGTGTTCGCAG
Seq C2 exon
GGGCGGAGGAATATGCCAGCTTCCTGCAGGAGGCGCAGGTACCGTTCCTCTCCCTGGAGCGCTGCTCAGCCCCGGACGTGCACGGATCCTCCATCCTCCCCGGCATGCTCTGCGCAGGGTTCCTCGAGGGCGGCACCGATGCGTGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131187:ENST00000253496:12
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:
PF0008921=Trypsin=FE(20.3=100)
A:
NA
C2:
PF0008921=Trypsin=FE(20.7=100)
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:
CTCTGTTGCGCCTTCAGGAG
R:
CGAGGAACCCTGCGCAGAG
Band lengths:
270-825
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