Special

HsaINT0059128 @ hg38

Intron Retention

Gene
Description
coagulation factor XII [Source:HGNC Symbol;Acc:HGNC:3530]
Coordinates
chr5:177405054-177405433:-
Coord C1 exon
chr5:177405323-177405433
Coord A exon
chr5:177405186-177405322
Coord C2 exon
chr5:177405054-177405185
Length
137 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
CTATCCCTCTTTGTCCCCAGAGA
3' ss Score
10.91
Exon sequences
Seq C1 exon
ACCACTGCAGCAAACACAGCCCCTGCCAGAAAGGAGGGACCTGTGTGAACATGCCAAGCGGCCCCCACTGTCTCTGTCCACAACACCTCACTGGAAACCACTGCCAGAAAG
Seq A exon
GTGAGGAGATGTGGAGGACCTGGGCGGGGTGCTGGGGGACAGGGGCAACCCTGGGCCTACAGAATAGGTTGCTGGATACTCGGAGACTTGGCATGGTCCTAGACTCTCCTGAGACCACTATCCCTCTTTGTCCCCAG
Seq C2 exon
AGAAGTGCTTTGAGCCTCAGCTTCTCCGGTTTTTCCACAAGAATGAGATATGGTATAGAACTGAGCAAGCAGCTGTGGCCAGATGCCAGTGCAAGGGTCCTGATGCCCACTGCCAGCGGCTGGCCAGCCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000131187:ENST00000253496:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.283 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0000822=EGF=WD(100=84.2)
A:
NA
C2:
PF0003913=fn1=WD(100=80.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCACTGCAGCAAACACAGC
R:
TGGCAGTGGGCATCAGGA
Band lengths:
226-363
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