Special

HsaINT0059131 @ hg38

Intron Retention

Gene
Description
coagulation factor XII [Source:HGNC Symbol;Acc:HGNC:3530]
Coordinates
chr5:177404196-177404664:-
Coord C1 exon
chr5:177404499-177404664
Coord A exon
chr5:177404414-177404498
Coord C2 exon
chr5:177404196-177404413
Length
85 bp
Sequences
Splice sites
5' ss Seq
CCGGTGCGC
5' ss Score
7.96
3' ss Seq
GCCCCGTCGTGTGGCTACAGGAA
3' ss Score
6.78
Exon sequences
Seq C1 exon
ACACCAAGGCAAGCTGCTATGATGGCCGCGGGCTCAGCTACCGCGGCCTGGCCAGGACCACGCTCTCGGGTGCGCCCTGTCAGCCGTGGGCCTCGGAGGCCACCTACCGGAACGTGACTGCCGAGCAAGCGCGGAACTGGGGACTGGGCGGCCACGCCTTCTGCCG
Seq A exon
GTGCGCCGCGTGGGGCTGGGTGACCCCTCCGCCCCAGGGCTCCGGGCTCCCGGCGCTCTAACGGCGCCCCGTCGTGTGGCTACAG
Seq C2 exon
GAACCCGGACAACGACATCCGCCCGTGGTGCTTCGTGCTGAACCGCGACCGGCTGAGCTGGGAGTACTGCGACCTGGCACAGTGCCAGACCCCAACCCAGGCGGCGCCTCCGACCCCGGTGTCCCCTAGGCTTCATGTCCCACTCATGCCCGCGCAGCCGGCACCGCCGAAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131187:ENST00000253496:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.018 A=NA C2=0.554
Domain overlap (PFAM):

C1:
PF0005113=Kringle=PU(63.3=89.3)
A:
NA
C2:
PF0005113=Kringle=PD(35.4=37.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGCAAGCTGCTATGATGGC
R:
GGATGTCGTTGTCCGGGTTC
Band lengths:
181-266
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